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GU EN 1) CS Genotype includes: a) only nuclear DNA b) only mitochondrial DNA c) nuclear genes d) all mitochondrial genes e) nuclear and mitochondrial genes 2) CS Which of the following is not a part of genetic apparatus? a) nucleus b) centrioles c) mitochondria d) lysosomes e) ribosomes 3) CS Which of the following describes human genome? a) the total complement of nuclear genes b) the total complement of genes contained in a cell c) fragments of DNA which encode proteins d) a complete set of the genes of a human population e) the genetic constitution of an organism 4) CS Which of the following provides the equal separation of genetic material? a) ribosomes b) chromosomes c) centrioles d) mitochondria e) endoplasmic reticulum 5) CS Which of the following refers to total complement of nuclear genes? a) phenotype b) gene pool c) linkage group d) caryotype e) genotype 6) CS The following are synthesized in G2-phase: a) RNA and proteins of mitotic spindle b) DNA and proteins c) RNA, DNA and proteins d) DNA, RNA and histones e) none of the above 7) CS In which of the interphase stages does human cell contain 92 molecules of DNA? a) in S-phase only b) in G1-phase c) in both G1 phase - and S -phase d) in G2-phase e) during whole interphase 8) CS DNA replication takes place: a) in interphase (during all phases) b) at the beginning of S-phase c) during S phase d) during mitosis e) during G0 phase 9) CS Which of the following stages is the most important from genetical point of view? a) G1 and G2 b) G1 c) S d) G0 e) G2 10) CS Cell DNA is located in: a) nucleus b) euchromatin c) mitochondria d) chromosomes only e) both nucleus and mitochondria 11) CM Human genetics studies: a) phenomena of inheritance and variability in human populations b) laws of transmission of normal and pathological traits c) structure of cell organelles d) common human diseases e) role of genetic predisposition and environmental factors in appearance of diseases 12) CM Non repetitive sequence: a) are dispersed and repeated a small number of times b) are very short c) are unique and represented in a single copy d) can make up gene families e) consist of exons and intron 13) CM Moderately repetitive sequences: a) are short and usually repeated as a tandem array b) make up the families of genes c) participate in regulation of gene expression d) form transposons e) have structural function 14) CM Highly repetitive sequences: a) are short and usually repeated as a tandem array b) are represented by structural genes c) make up gene families d) may be used as a molecular markers e) have structural role 15) CM Which of the following describe transposons? a) are segments of DNA that can't move in genome b) they are sometimes called "jumping genes" c) they may be of two types: DNA transposons and retrotransposons d) they may cause mutations e) they may change the amount of DNA in the genome 16) CM Which of the following are shared by mitochondrial genome? 1 GU EN a) it is a double-stranded circular molecule of DNA b) it is a double stranded linear molecule of DNA c) its replication takes place from two discrete origins d) it is very compact e) it has introns 17) CS Nuclear genome is represented by: a) 4000 genes b) 46 molecules of DNA c) mobile elements d) viral DNA e) pseudogenes 18) CS Which of the following refers to total complement of genes in population? a) phenotype b) gene pool c) linkage group d) karyotype e) genotype 19) CS Normal human gamete contains: a) 2n=23 b) n=23 c) n=46 d) 22 autosomes e) 44 autosomes 20) CS What do contain normal human eggs? a) 44 + X b) 44 + Y c) 22 + XY d) 22 + Y e) 22 + X 21) CS Cell center is a part of genetic apparatus because: a) consists of two centrioles b) is surrounded by centrosphere c) is represented by a single body d) assures exact segregation of genetic information during cell division e) contains membranes 22) CS Which of the following don't characterize euchromatin? a) early replication b) it's diffuse chromatin c) is transcribed d) contains active genes e) contains highly repetitive sequence 23) CS Which of the following don't characterize heterochromatin? a) late replication b) it's condense c) contains non-active genes d) is transcribed e) contains highly repetitive sequence 24) CM Human genetics studies: a) the structure of genes, chromosomes, karyotype b) heredity and variability c) steps of gene expression d) human diseases prophylaxis e) molecular mechanisms of evolution 25) CM Which of the following are components of genetic apparatus? a) nucleus b) ribosomes c) cell center d) mitochondria e) lysosomes 26) CM Heredity: a) is assured by property of DNA to replicate b) is determined by stability of genetic program c) is universal property to keep traits d) assures adaptation in new life condition e) explains "family" traits 27) CM Heredity represents: a) the property of organisms to transmit traits to offspring b) the property of organisms to keep traits along generations c) the property assured by DNA replication d) the property assured by random segregation of chromosomes in meiosis e) the property assured by crossing-over 28) CS Chemical composition of chromosomes: a) DNA and RNA b) DNA, RNA, histones and non-histones c) DNA and histones d) DNA, RNA and non-histones e) RNA and histones 29) CS Normal human somatic cells contain: a) a haploid number of chromosome (2n=23) b) a diploid number of chromosomes (2n=46) c) 46 pairs of autosomes d) 44 autosomes and 2 pairs of sex chromosomes e) 22 autosomes and sex chromosome 30) CS Which of the following is not shared by homologous chromosomes? a) they are similar in morphology b) they form pairs during meiosis c) they have maternal and paternal origin d) they are present in diploid cells e) they are present in haploid cells 31) CS Which of the following is true concerning autosomes? a) there are 23 pairs in each human cell b) all of them are identical 2 GU EN c) they are present only in somatic cells d) they pair during meiosis and form 22 bivalents e) they are different in men and women 32) CS The chromosomes represent: a) the most condensed, genetically active chromatin b) genetic information during interphase c) genetic material during cell division d) the total complement of DNA molecules from a cell e) structures which consists of RNAs and proteins 33) CS What do contain normal sperm cells? a) 44+X b) 44+Y c) 22+XY d) 22+X e) 22+XX 34) CS Which of the following is not a morphological criterion of metaphase chromosomes? a) number of chromosomes b) presence of centromere c) presence of telomeres d) chromosomal length e) position of the centromere 35) CS What the term "karyotype" does mean? a) nuclear genetic material b) genetic information from a haploid cell c) type of chromosomes d) display of the metaphase chromosome of a somatic cell e) entire genetic information of cell 36) CS Which of the following is used to block mitosis at metaphase? a) phytohaemagglutinin b) colchicine c) histones d) CARR e) quinacrin. 37) CS Which of the following is not a step of chromosome analysis? a) collecting of blood in aseptic condition b) treatment of cell by restriction enzymes c) blocking of mitosis in metaphase d) adding of fixative e) examination, using a microscope 38) CS Which of the following is not necessary for chromosome analysis? a) fixative solution b) orcein c) quinacrin d) CARR e) endonuclease 39) CS Which of the following groups includes X chromosome? a) group A b) group B c) group C d) group E e) none of the above 40) CS Which of the listed groups includes Ychromosome? a) group A b) group C c) group G d) group D e) none of the above 41) CS Exact identification of chromosomes may be done using the following criterion: a) length of chromosome b) position of the centromere c) presence of secondary constriction d) different patterns of banding e) presence of satellites 42) CS Which of the following is false for metaphase chromosome? a) they are attached to the spindle fibers b) they move to the apposite poles c) they are located in cytoplasm d) they consist of 2 chromatids e) they are strongly condensed 43) CS Which of the following is the main genetic difference between interphase chromatin and metaphase chromosomes? a) chemical composition b) level of condensation c) genetic activity d) intensity of staining e) quantity of genetic information 44) CM Which of the following chromosomes have satellites or arm p? a) 1, 9, 16, 19 b) 14, 15, 16, 17, 18 c) 13, 14, 15 d) 21, 22 e) 21, 22, Y 45) CM Which of the following chromosomes have no secondary constrictions on p arm? a) 1, 9, 16, 19 b) 1, 9, 16, Y c) 1, 9, 6, 19 d) 21, 22 e) 1, 19, 21 46) CM Metacentric chromosomes: a) have p/q ratio =1/1 b) all of them contain satellites in long arm 3 GU EN c) have centromere index equal with 46-49 d) are chromosomes 1,3,17,Y e) are he chromosomes 1,3,19,20,16 c) positive bands - heterochromatin d) positive bands - euchromatin e) negative bands - heterochromatin 47) CM Submetacentric chromosomes: a) have p/q ratio = 1/5 b) have p/q ratio =1/3 c) are chromosomes of group C d) are chromosomes of group F e) are chromosomes of group B 55) CM What are the practical role of C - banding? a) exact identification of chromosomes b) identification of structural abnormalities c) exact identification of number of chromosomes d) exact identification of centromere region e) exact identification of telomeres 48) CM Acrocentric chromosomes: a) have p/q ratio = 1/5 b) have p/q ratio =1/3 c) the chromosomes of group G d) the chromosomes of group F e) the chromosomes of group B 56) CM What are the practical role of T - banding? a) determination of sex chromatin b) exact identification of chromosomes c) exact identification of centromere region d) exact identification of telomeres e) exact identification of nucleolus 49) CM The chromosome 16: a) it is a medium chromosome b) may contain a secondary constriction c) it is a metacentric chromosome d) it is from F group e) it is an acrocentric chromosome 57) CM Which of the following are not used for Qbanding? a) CARR b) Giemsa dye c) quinacrin d) fluorescent dye e) orcein 50) CS Telomeres are necessary for: a) cell division b) DNA replication c) nucleolus formation d) maintaining of entire chromosome structure e) transcription 51) CM Chromosome pairs differ by: a) size b) shape c) number of genes d) presence of DNA molecules e) presence of secondary constriction 52) CM Which of the following are shared by Gbanding? a) Giemsa dye is used for staining b) Giemsa or fluorescent dyes are used for staining c) positive bands - euchromatin d) negative bands - heterochromatin e) positive bands - heterochromatin 53) CM Which of the following are right for Qbanding? a) Giemsa or fluorescent dyes are used for staining b) quinacrin is used for staining c) positive bands - heterochromatin d) negative bauds - euchromatin e) CARR is used for staining 54) CM Which of the following are shared by Rbanding? a) Giemsa or fluorescent dyes are used for staining b) CARR is used for staining 58) CM Choose the common elements of metaphase chromosome: a) two chromatids; b) satellites c) centromere d) telomere e) secondary constriction in q-arm 59) CM Which of the following describe female caryotype? a) all chromosomes are shorter than in men b) it contains 22 pairs of autosomes and 2 sex chromosomes c) it includes 7 groups of chromosomes d) it contains chromosomes of different length e) sex chromosomes are different 60) CM Which of the following describe male gamete karyotype? a) it contains X and Y chromosomes b) it contains either X or Y chromosomes c) it contains 22 pairs of autosomes d) it contains 22 autosomes e) it contains haploid number of chromosomes 61) CM Karyotype of somatic male cells contains: a) identical sex chromosomes b) X and Y chromosomes c) 22 pairs of autosomes d) haploid number of chromosomes e) 22 autosomes 62) CM Karyotype of somatic female cells contains: 4 GU EN a) identical sex chromosomes b) X and Y chromosomes c) 22 pairs of autosomes d) haploid number of chromosomes e) 22 autosomes 63) CM Which of the following groups include metacentric chromosomes? a) A b) B c) G d) F e) C 64) CM Which of the following groups include acrocentric chromosomes? a) B b) C c) D d) A e) G 65) CM Sex chromosomes: a) are the same in men b) are the same in women c) determine gender of child d) are presents in sexual cells only e) contain only genes, that determine sex 66) CM Chose the karyotypes of persons with normal phenotype: a) 46,XY b) 46,XY,9qh+ c) 45,XY,-9 d) 44,XY,5pe) 46,XY,inv (4)(p15q13) 67) CM Chose the karyotypes of persons with normal phenotype: a) 46,XY b) 46,XX,1q+ c) 46,XX,9qd) 46,XX 16qh+ e) 45,XY,rob (14;21) 68) CM Which of the following karyotypes don't correspond to normal phenotype? a) 47,XX,+21 b) 46, iso(Xp)Y c) 46,XY,1q-,9qh+ d) 46,XY,16qhe) 46,X, r(X) 69) CM Which of the following karyotypes don't correspond to normal phenotype? a) 47,XX,+13 b) 45,XY, rob (14;21) c) 46, XX, rob (13;21),+21 d) 46,XY,16qh+ e) 46,XX,9qh 70) CS The chromosomes represent: a) non-active euchromatin b) genetic material during interphase c) genetic material during cell division d) bodies which appear during mitochondrial division e) bodies which consist of RNA and proteins 71) CS Which of the following is false concerning 21 st chromosome? a) is an acrocentric chromosome b) is a small chromosome c) is included in G group d) contains satellites on short arms e) there are tree chromosomes in Turner syndrome 72) CS Which of the following karyotypes don't correspond to normal phenotype? a) 46,X,Yq+ b) 46,XY,9qh+ c) satellites in chromosomes from D group d) 46,XY,inv(4)(p15q13) e) 46,XY,5p73) CS What method uses obligatory fluorescent microscope? a) T banding b) C banding c) Q banding d) G banding e) R banding 74) CM X chromosome: a) contains only genes for female development b) always has maternal origin c) X-linked diseases often affect males d) X polysomies in men are always lethal e) X trisomy in women are viable 75) CM All the chromosomes contain: a) two chromatids b) satellites c) centromere d) secondary constriction on long arm e) telomeres 76) CM Which of the following characterize male karyotype? a) sex chromosomes have the same length b) there are 5 acrocentric chromosomes c) contains 46 chromosomes d) contains chromosomes with different length e) contains metacentric, acrocentric and submetacentric chromosomes 77) CM Which of the following characterize female karyotype? a) sex chromosomes have the same length 5 GU EN b) here are 5 acrocentric chromosomes c) the chromosomes are distributed in 7 groups d) consists of 22 pairs of autosomes and two sexual chromosomes e) all the chromosomes are shorter than in males 78) CM The karyotype: a) changes in karyotype always lead to abnormal phenotype b) males and females have the same number of chromosomes c) is characterized by a constant number of chromosomes d) is represented by chromosomes from a gamete e) is represented by chromosomes from a diploid cell 79) CM Which of the following errors are always lethal? a) triploidy b) trisomy c) nullisomy d) deletions e) autosomal monosomy 80) CS Which of the following is false for Xchromosome? a) it is present in females only b) it is present in males and females c) it contains many genes d) it may be inactivated e) half of the sperms contain an X chromosome 81) CS What is common for X and Y chromosomes? a) they have the same length b) they both are sex chromosomes c) they have the same number of genes d) they are inactive e) they both produce Barr bodies 82) CS What is number of Barr bodies in normal karyotype of women? a) 2 b) 1 c) 3 d) 0 e) none of the above 83) CS The number of Barr bodies: a) is equal with the number of X chromosomes b) is equal with the number of Y chromosomes c) is one less than the number of X chromosomes d) is one more than the number of chromosomes e) none of the above 84) CS Examination of Barr bodies is not useful to: a) determine the number of autosomes b) determine the sex in prenatal stage c) determine the sex of a person with ambiguous genitalia d) determine the number of X chromosomes e) detect abnormal karyotype 85) CS Which of the following corresponds to the karyotype 47,XX iso(Xp)? a) two fluorescent bodies b) one 0,5 µm Barr body c) two Barr bodies: 1 µm and 0,5 µm respectively d) one 0,5 µm F body e) always - two normal Barr bodies 86) CS Which of the following is observed in cells of person with karyotype 47,XYY? a) two fluorescent bodies b) two normal Barr bodies c) one 0,5 µm Barr body d) two Barr bodies: 1 µm and 0,5 µm respectively e) one 0,5 µm F body 87) CS Chose the number of Barr bodies, which corresponds to the following karyotype 47,XXY? a) 1 b) 2 c) 3 d) 0 e) 4 88) CS Chose the number of Barr bodies, which corresponds to the following karyotype 47,XXX? a) 1 b) 2 c) 3 d) 0 e) 4 89) CS Chose the number of Barr bodies, which corresponds to the following karyotype 47,XX,+21? a) 1 b) 2 c) 3 d) 0 e) 21 90) CS Chose the number of Barr bodies, which corresponds to the following karyotype 47,XY,+13? a) 1 b) 2 c) 3 d) 0 e) 13 91) CS Chose the number of Barr bodies, which corresponds to the following karyotype 45,X? a) 1 b) 2 c) 3 d) 0 e) 4 6 GU EN 92) CS Which of the following corresponds to the karyotype 47,XYY? a) a man with Klinefelter syndrome b) one 0,5 µm Barr body c) one 0,5 µm F body d) two normal F bodies e) two Barr bodies 93) CS Which of the following corresponds to the karyotype 47,XY iso(Xp)? a) absence of F body b) 0,25 µm F body c) 0,5 µm F body d) two 0,25 µm F bodies e) two F bodies: 0,25 µm and 0,50 µm respectively 94) CS For which of karyotypes is true the following list of Barr bodies: 0,1,0,1? a) 45,X; 46,XX; 47,XYY; 48,XXYY b) 46,XX; 46,XY; 45,X; 47,XXX c) 47,XYY; 46,XX; 46,XY; 48,XXXX d) 46,XY; 45,X; 47,XXY; 47,XYY e) 47,XXX; 46,XY; 48,XXYY; 47,XYY 95) CS. Which of the following contains more than one Barr body in the cells? a) a woman with normal phenotype b) a man with Klinefelter syndrome c) a woman 46,X,i(Xq) d) a woman with Turner syndrome e) a woman with trisomy X 96) CS. Which of the following is false concerning Xchromatin? a) represents a heterochromatin body in multilobed nuclei of neutrophils b) in mucosa cells is attached to the inner nuclear membrane c) it is colored with quinacrine d) it is darkly colored e) represents an inactivated X chromosome 99) CS. Which of the following sequence of numbers represents the right number of Barr bodies observed in: a man with trisomy 21; a woman with trisomy X; a woman with Turner syndrome; a man with Klinefelter syndrome? a) 0, 1, 2, 1 b) 1, 1, 0, 1 c) 0, 2, 0, 1 d) 2, 0, 1, 1 e) 1, 1, 0, 2 100) CS What F body represents? a) a X chromosome b) a Y chromosome c) 2/3 of Y chromosome d) 2/3 of short arm of Y chromosome e) 2/3 of long arm of Y chromosome 101) CM. For which of karyotypes is true the following list of F bodies: 0, 1, 2, 0? a) 45,X; 46,XY; 47,XYY; 48, XXXX b) 46,XX; 47,XXX; 47,XXY; 45,X c) 47,XXX; 47,XXY; 48,XXYY; 46,XX d) 46,XY; 47,XXY; 47,XYY; 47,XXX e) 45,X; 46,XX; 48,XXXY; 46,XY 102) CM Which of the following describe Barr body? a) normally one X chromosome is inactivated in interphase b) their number is equal with the number of X chromosomes c) it is a facultative heterochromatin d) it corresponds to the number of Y chromosomes e) it is about 1 µm in diameter 103) CM Which of the following corresponds to the karyotype 47,XX, iso(Xp)? a) woman with trisomy b) woman with monosomy c) two Barr bodies: 1 µm and 0,5 µm respectively d) two fluorescent bodies e) two normal Barr bodies 97) CS. The F body: a) represents a X-chromatin body b) represents an entirely inactivated Y chromosome c) it is present in two copies in persons with Klinefelter syndrome d) it is present in all persons without Barr body e) the number of F bodies and Y-chromosomes is the same 104) CM Examination of Barr bodies is useful to: a) determine the gender in prenatal stage b) determine the gender of a person with ambiguous genitalia c) defect gonosomal polisomies d) determine the number of Y chromosomes e) determine the number of X chromosomes 98) CS. Which of the following persons may contain 47 chromosomes and a single Barr body? a) a man with trisomy 21 b) a woman with trisomy 13 c) a woman containing an additional X chromosome d) a person with karyotype 47,XYY e) a woman with Turner syndrome 105) CM. A person with a normal phenotype and one Barr body has the following karyotype: a) 46,XX b) 47,XXY c) 45,XX, rob(14,21) d) 46,XX, del 8q e) 45,X 7 GU EN 106) CM. Which of the following are true concerning Y chromatin? a) it is absent in females b) it is present in person with Klinefelter syndrome c) it is present in all males d) the persons with karyotype 47,XYY contain a single F body e) the number of Y-chromosomes is identical with number of Barr body 107) CM. Which of the following announcements concerning X chromatin are true? a) represents a heterochromatin body in sperm cells b) in mucosa cells is attached to the inner nuclear membrane c) it is intensely colored with quinacrine d) it is present only in persons containing more then one X chromosome e) in all cells is inactivated the same X chromosome 113) CS Which of the following is not a characteristic of mitosis? a) it is a equational division b) transmission of genetic information takes place exactly c) daughter cells receive the same number of chromosomes d) it consists of prophase, metaphase, anaphase, telophase e) it begins with monochromatidian chromosomes 114) CS Which of the following is not a phase of mitosis? a) diakinesis b) anaphase c) prophase d) metaphase e) telophase 108) CM. Analysis of X-chromatin assures: a) identification of persons with Down syndrome b) identification of gender c) identification of karyotype d) identification of the genetic gender in children with ambiguous genitalia e) identification of persons with Klinefelter syndrome 115) CS Which of the following combinations correctly describes the sequence of mitosis phases? a) prophase-telophase-metaphase-anaphase b) anaphase-prophase-telophase-metaphase c) metaphase-prophase-anaphase-telophase d) prophase-metaphase-anaphase-telophase e) prophase-anaphase-metaphase-telophase 109) CM. Which of the following are true concerning F chromatin? a) it is intensely stained with fluorescent dyes b) may be identified during cell division c) it is present in all male peoples d) it is present in egg cells e) may be identified in all sperm cells 116) CS Which of the following is not an importance of mitosis? a) it ensures stability of the tissues b) it provides embriogenesis c) it ensures the substitution of dead cells d) it provides growth and development e) it links parents with their offspring 110) CM Which of the following correspond to trisomy X? a) one Barr body b) three Barr bodies c) two 1 m Barr bodies d) 0,5 m Barr body e) absence of F body 117) CS Which of the following formula corresponds to the anaphase of mitosis? a) 2n=1c b) 2n=4c c) 4n=4c d) 2n=2c e) 4n=2c 111) CM Which of the following persons may contain 47 chromosomes and a single F body? a) a man with XYY syndrome b) a normal man c) a man with Down syndrome d) a woman with trisomy X e) a man with Klinefelter syndrome 118) CS Which of the following formula corresponds to the prophase of mitosis? a) 2n=2c b) 4n=4c c) 2n=4c d) 4n=2c e) 2n=1c 112) CM Which of the following correspond to the karyotype 46,Xi(Xp)? a) one Barr body b) two Barr bodies c) a normal woman d) a woman with Turner syndrome e) a woman with partial trisomy 119) CS Which of the following is not a characteristic of meiosis? a) it contains a reductional division b) it provides growth and development c) it links parents with their offspring d) it ensures the constant number of chromosomes in generations of organisms 8 GU EN e) it increases genetic variability 120) CS In which of the following stages of meiosis does take place crossing-over? a) anaphase I b) prophase I c) anaphase II d) metaphase I e) metaphase II 121) CS Bivalent is: a) a pair of homologous chromosomes b) a result of crossing over c) a set of four chromosomes d) a characteristic of mitosis e) formed during prophase II 122) CS When does occur inter-chromosomal recombination? a) in anaphase II b) in metaphase II c) in prophase II d) in prophase I e) in anaphase I 123) CS When does occur intra-chromosomal recombination? a) in anaphase II b) in anaphase I c) in prophase I d) in prophase II e) in metaphase I 124) CS Which of the following errors leads to the mosaic 46,Xi(Xp) / 46,Xi(Xq)? a) non-disjunction of chromatids in X chromosome b) anaphase lag in mitosis c) transversal cleavage of centromere during first zygotic division d) anaphase lag in meiosis e) transversal cleavage of centromere during blastomere's division 125) CS Crossing-over takes place during: a) anaphase I b) prophase II c) anaphase II d) prophase I e) telophase I 126) CS What zygotes will result after fertilization of an normal gamete with a gamete produced after nondisjunction during meiosis I in father? a) 45,X; 47,XXY b) 45,X; 46,YY; 47, XYY c) 45,X; 47,XXY; 47, XYY d) 45,X; 46,XY; 47,XXX e) 46,XY; 47,XXX; 47, XYY 127) CS What zygotes will result after fertilization of an normal gamete with a gamete produced after nondisjunction during meiosis II in father? a) 45,X; 46,XXX; 47,XYY b) 45,X; 47,XXX; 47,XXY c) 45,X; 47,XXX; 47,XYY d) 45,X; 47,XXX; 46,XYY e) 45,X; 47,XXY; 47,XYY 128) CM What zygotes will result after fertilization if in both gametes a non-disjunction will occur during meiosis II? a) 47,XYY b) 47,XXX c) 48,XXXX d) 48,XXYY e) 48,XXXY 129) CM What zygotes will result after fertilization of an normal gamete with a gamete produced after nondisjunction during meiosis I and meiosis II in mother? a) 48,XXYY b) 48,XXXY c) 49,XXXXY d) 49,XXXXX e) 47,XXY 130) CS Which of the following errors leads to mosaic 46,Xi(Xp)/46,XX/46,Xi(Xq)? a) transversal cleavage during second zygotic division b) anaphase lag during mitosis c) transversal cleavage during first zygotic division d) non-disjunction of X chromosomes during mitosis e) non-disjunction of X chromosomes during meiosis 131) CS Which of the following is not a characteristic of meiosis? a) meiosis assures variability b) first prophase is the longest stage c) both divisions consist of four stages: prophase, metaphase, anaphase and telophase d) distribution errors may occur in both divisions e) consists of two divisions: the first equational and the second - reductional 132) CS The mosaic 47/46/45 can be produced via: a) anaphase lag during mitosis b) nondisjunction during mitosis and meiosis II c) nondisjunction during mitosis d) nondisjunction during meiosis II e) nondisjunction during meiosis I 133) CS New gene combinations are produced during: a) telophase I and anaphase II b) anaphase II c) metaphase II d) prophase I and prophase II e) prophase I and anaphase I 9 GU EN e) A2B 134) CS which of the following is not a characteristic of mitosis? a) resulted cells are diploid b) result two cells c) at first stage of mitosis the cell contains monochromatidian chromosomes d) may occur in testis e) is an equational division 135) CM Choose the possible mechanisms of tetrasomy 48,XXYY: a) non-disjunction of X chromosome during meiosis I and II b) gonosomal non-disjunction in ovogenesis and spermatogenesis in meiosis I c) double gonosomal non-disjunction in ovogenesis d) gonosomal non-disjunction in spermatogenesis during meiosis I and non-disjunction of Y chromosome during meiosis II e) non-disjunction in gametes during meiosis II 136) CM Gonosomal trisomies are viable because: a) both gonosomes contain only genes involved in sexual development b) there are few genes in X chromosome c) Y chromosome contains a few active genes d) whole chromosomes may be inactivated e) both gonosomes contain a small number of genes 137) CS In case of codominance in heterozygous: a) both allele genes are manifested b) only recessive gene is manifested c) only dominant gene is manifested d) two non-allele genes are manifested e) a intermediate trait is formed 138) CS What of the following is an example of allele interaction? a) epistasis b) gene complementarity c) poligeny d) complete dominance e) pleiotropy 141) CS A woman has Hp1-1 and his brother is Hp2-2. What genotypes may have parents? a) Hp 1-1 / Hp 1-1 b) Hp 1-2 / Hp 1-2 c) Hp 1-2 / Hp 2-2 d) Hp 1-1 / Hp 1-2 e) Hp 2-2 / Hp 2-2 142) CS In which of the following combinations couples cannot have children with A2 blood group? a) A1 + B b) A1B + B c) A2B + O d) A2 + A2B e) A2B + A1 143) CS In which of the following combinations couples may have children with O blood group? a) A1+ B b) B + A2B c) A1B + O d) A1B + A2B e) A + A1B 144) CS In which of the following combinations couples cannot have children with B blood group? a) A1 + B b) B + O c) A2 + A2B d) A2 + O e) A2B + A1B 145) CS Mother has A1 blood group and her son has A2. Which of the following cannot be father of child? a) A1 b) A2B c) A2 d) A1B e) there are no true answers 139) CS What of the following is an example of nonallele interaction? a) complete dominancy b) pleiotropy c) gene complementarity d) incomplete dominancy e) poliallelism 146) CS Which of the following is not a child of this couple: Mother: A1, MN, Rh+, Hp1-1, G Father: A2B, N, Rh+, Hp1-2, g Children: a) A2B, MN, Rh-, Hp1-2, g b) A1B, N, Rh+, Hp1-1, G c) A2, MN, Rh+, Hp1-2, G d) A1, N, Rh+, Hp1-1, g e) B, N, Rh+, Hp2-2, G 140) CS Mother has A1 blood group and her son has A2. Which of the following cannot be father of child? a) A2 b) B c) A1 d) A1B 147) CS Which of the following is not a child of this couple: Mother: A1, MN, G Father: B, N, g Children: a) O, MN, G 10 GU EN b) A2B, N, g c) A2 , MN, G d) A1B, M, g e) A1, N, g 148) CS Which of the following can be father of child: Mother: A1, N, Rh+, g Child: A1, MN, Rh+, G Father: a) A1, M, Rh-, g b) O, M, Rh+, G c) O, M, Rh+, g d) A1, MN, Rh+, g e) A2B, N, Rh+, G 149) CS Which of the following cannot be father of child: Mother: B, M , Rh+, Hp1-1 Child: A1B, MN, Rh-, Hp1-2 Father: a) A1, N, Rh-, Hp 1-2 b) A1B, MN, Rh+, Hp 1-2 c) A1B, M, Rh+, Hp 2-2 d) A1, N, Rh-, Hp 2-2 e) A1, N, Rh+, Hp 1-2 150) CS Which of the following can be father of child: Mother: B, N, Rh+, Se, Hp1-1 Child: O, MN, Rh-, se, Hp1-2 Father: a) B, N, Rh+, Se, Hp1-1 b) O, N, Rh+, Se, Hp1-2 c) A2, M, Rh-, se, Hp1-1 d) A1, M, Rh-, se, Hp2-2 e) A1B, MN, Rh+, Se, Hp2-2 151) CM Which of the following can be father of child: Mother: A1B, MN, Rh-, Hp 1-2 Child: B, N, Rh+, Hp 2-2 Father: a) A1, N, Rh-, Hp 1-2 b) A1B, MN, Rh+, Hp 1-2 c) A1, N, Rh-, Hp 2-2 d) A1, N, Rh+, Hp 1-2 e) A1B, M, Rh+, Hp 2-2 152) CS Which of the following can be father of child: Mother: A1B, Rh+, M, Hp 1-2 Child: A1, Rh-, MN, Hp 2-2 Father: a) A1, Rh+, MN, Hp 1-1 b) O, Rh-, MN, Hp 1-2 c) A2B, Rh-, M, Hp 1-2 d) A2, Rh+, N, Hp 2-2 e) B, Rh+, M, Hp 1-2 153) CM Allele genes: a) may be present in many forms b) determine the formation of different traits c) have the same position in a homologous chromosomes d) determine the formation of one trait e) segregate during meiosis in different gametes 154) CM. Which of the following are not a type of non-allele interactions? a) complementarity b) epistasis c) multiple allelism d) pleiotropy e) incomplete dominance 155) CM. Epistasis: a) is a type of non-allele interaction b) may be in two forms: dominant and recessive c) one non-allele gene masks the expression of another non-allele gene d) Bombay's phenotype is a example of this interaction e) one allele gene masks the expression of another allele gene 156) CM. Genomic imprinting: a) is a different expression of gene depending on of parental origin b) it appears in result of errors in meiosis c) it has a monoallelic expression d) is a functional gene modification e) is a structural gene modification 157) CM. Penetrance: a) it refers to dominant traits b) it refers to severity of traits c) it may be complete and incomplete d) it is only complete e) it represents the frequency of gene manifestation into the heterozygous genotype 158) CM Genotype may be: a) dominant b) homozygous c) recessive d) hemizygous e) heterozygous 159) CM. Phenocopy: a) is the result of genomic imprinting; b) is the result of locus heterogeneity c) it appears on influence of environment factors d) is a non-hereditary phenotypic modification e) it mimics an abnormal hereditary trait in normal phenotype 160) CM Mother has O blood group and her child A1. What groups may have father? 11 GU EN a) A2 b) A1B c) O d) A2B e) A1 161) CM Which of the following cannot be father of child: Mother: A1, M, Rh-, se Child: B, MN, Rh-, se Father: a) A2, M, Rh+, Se b) A1B, N, Rh-, Se c) A1, M, Rh+, se d) B, N, Rh+, Se e) A2B, N, Rh-, se 162) CM Which of the following cannot be father of child: Mother: A1, M, Rh-, se Child: B, MN, Rh+, se Father: a) A2, M, Rh+, Se b) A1B, N, Rh-, Se c) A1, M, Rh-, se d) A2B, M, Rh-, se e) B, N, Rh+, Se 163) CM Which of the following cannot be father of child: Mother: B, M, Rh+, Hp 1-1 Child: O, MN, Rh-, Hp 1-2 Father: a) A1, N, Rh-, Hp 1-2 b) A1B, M , Rh+, Hp 2-2 c) A1, N, Rh-, Hp 2-2 d) A1B, MN, Rh+, Hp 1-2 e) A2B, N, Rh-, Hp 1-1 164) CM. Which of the following are human monogenic traits? a) height b) skin colors c) ABO blood typing system d) Rh factor e) tissue antigens (HLA) 165) CM Polygenic traits: a) have a continuous distribution in human population b) are determined by series of allelic genes c) are determined by non-allelic genes form different chromosomes d) genes have a cumulative (additive) effect e) are multifactorial 166) CM Which of the following are polygenic human traits? a) blood type system ABO b) Rh-factor c) eye color d) arterial tension e) weight 167) CM The melanin quantity in skin: a) is a monogenic trait b) is determined by allelic genes c) is determined by 2 or more genes located in the same chromosome d) is determined by 2-6 non-allelic genes e) is distributed continuously in human population 168) CM Which of the following are not polygenic human traits? a) blood type system ABO b) Rh-factor c) eye color d) arterial tension e) weight 169) CS Which of the following characterize multiple action of gene? a) panmixia b) pleiotropy c) polymorphism d) polyallelism e) polygeny 170) CS Which of the following is not a characteristic of allele genes? a) may be identical in homologous chromosomes b) may interact with other genes c) have a specific place in chromosome d) always determine a single trait e) a gene may contain multiple alleles 171) CS What is a characteristic of gene linkage? a) usually is complete b) takes place when genes are located on different chromosomes c) takes place when genes are located on the same chromosomes d) takes place between codominant genes e) takes place only between dominant alleles 172) CS What is not a characteristic of chromosome map? a) one may contain genes from different chromosomes b) closed genes are inherited together c) unit of distance is centimorgan d) the number of maps is the same as number of linkage groups e) represents location of genes in chromosome 173) CS Chromosomal theory of inheritance was proposed by: a) Hardy b) T. Morgan c) Weinberg 12 GU EN d) N. Vavilov e) G. Mendel 174) CM Which of the following correspond to chromosomal theory of inheritance? a) all the genes from a linkage group are inherited separately b) between homologous chromosomes crossing-over may occur c) genes from a linkage group are inherited together d) genes located in one molecule of DNA represent a linkage group e) genes are located in chromosomes 175) CM Which of the following characterize both ABO and HLA systems? a) are determined by a pair of alleles b) are 100% hereditary traits c) have a multigenic determination d) assure human genetic polymorphism e) poliallelism 176) CM Monogenic traits have the following characteristics: a) always are 100% hereditary traits b) mostly a determined by environment factors c) are mendelian traits d) are determined by allelic genes e) are determined by expression of two alleles 177) CM Characteristics of Bombay phenotype: a) the phenotype is similar to O blood group b) always is associated with genotype Sese c) represents an example of epistasy between Se and ABO genes d) absence of ABO antigens on surface of erythrocytes e) presence of anti-A and anti-B in blood serum 178) CM Imprinting is characterized by: a) only paternal allele is inactivated b) both alleles are inactivated c) uniparenatl disomy leads to abnormal development d) is determined by gene inactivation during gametogenesis e) monoallelic gene expression 179) CM Monogenic traits have the following characteristics: a) may be 100% hereditary traits b) may be determined by multiple alleles c) are determined by non-allelic genes located in homologous loci d) are determined by allele genes located in different loci e) are mendelian 180) CM Which of the following are characteristics of genomic imprinting? a) imprinted allele depends on maternal or paternal origin b) is assured by methilation of some DNA sequences c) monoallelic gene expression d) selective inactivation of some genes e) selective activation of some genes 181) CM Non-allele gene interactions are represented by: a) co-domination b) gene complementarity c) epistasy d) intermediate dominancy e) polyallelism 182) CM Characteristics of dominant alleles: a) dominant alleles cannot produce diseases b) is always expressed c) expression is not depending on the second allele d) are expressed only in presence of an identical allele e) are expressed in both homo- and heterozygous 183) CM Genes: a) may be allele or non-allele b) always are present in pairs c) may be homologous or non-homologous d) may be dominant or recessive e) determine traits 184) CM The genotype may be: a) heterozygous b) homozygous c) recessive d) hemizygous e) dominant 185) CM Which of the following traits have polygenic determinism? a) secretor status b) Rh blood group c) height d) blood pressure e) skin color 186) CS Gene mutations may be: a) numeric b) only recessive c) lethal d) only somatic e) phenotypic 187) CS Mutation cannot be: a) chromosomal b) gene c) phenotypic d) point e) genomic 188) CS Which mutation can be inherited? a) somatic spontaneous 13 GU EN b) somatic induced c) lethal d) generative e) all of them 189) CS Which of the following does not change the quantity of genetic material? a) duplication b) deletion c) substitution d) trisomy e) polyploidy 190) CS Which formula represents polyploidy? a) 2n+2 b) 2n c) 2n+1 d) 3n e) 2n-1 191) CS Which of the following is not a structural chromosomal aberration? a) deletion b) duplication c) monosomy d) translocation e) inversion 192) CS Which of the following kariotype cannot be in Turner syndrome? a) 46,X,i(Xq) b) 45,X c) 47,XXX d) 46,XX/45,X e) 46,X,Xp193) CS Which of the following mutations cannot be in newborns? a) 47,XY,+1 b) 45,XO c) 47,XYY d) 45,XX,-21 e) 47,ХХХ 194) CS Which of the following is an equilibrated chromosomal mutation? a) 46,X,i(Yq) b) 45,XY,rob(13;21) c) 46,XX,9qd) 46,XX,16qh+ e) 47,XY,+18 195) CS Which of the following is a non-equilibrated chromosomal mutation? a) 45,XX,rob(21;21) b) 46,XY,1qh+ c) 46,XY,inv(4)(q13q23) d) 46,XY,t(2;8),(q13;q12) e) 46,XX,r(5),(q15q35) 196) CS Which karyotype is associated with Edward's syndrome? a) 47, XY,+21 b) 47, XXY c) 47, XX,+13 d) 47, XY,+18 e) 45,XX, rob(13;21) 197) CS Which karyotype is associated with Patau syndrome? a) 47, XX,+18 b) 47, XYY c) 47, XY,+13 d) 46, XX, 5pe) 47, XXX 198) CS Which of the following rearrangements is not a mutation? a) combinative b) chromosomal c) gene d) genomic e) somatic 199) CS Which of the following karyotypes does correspond to the Kleinfelter syndrome? a) 47,XXY b) 47, XYY c) 46, XXY d) 47, XXX e) 45,X 200) CS Which of the following is viable monosomy in human? a) monosomy 13 b) monosomy 21 c) monosomy X d) monosomy Y e) monosomy 3 201) CS Which of the following karyotypes does correspond to the Turner syndrome? a) 47,XXY b) 47, XYY c) 46, XXY d) 47, XXX e) 45,X 202) CS A man with Klinefelter syndrome has genotype Xg(a+). His mother is Xg(a-) and his father is Xg(a+). Determine, when and where did occur gonosome non-disjunction in meiosis: a) non-disjunction in meiosis I, paternal b) non-disjunction in meiosis II, paternal c) non-disjunction in meiosis I, maternal d) non-disjunction in meiosis II, maternal e) post-zygotic non-disjunction 14 GU EN 203) CS Choose the most frequent clinical trait in case of Klinefelter syndrome: a) high stature b) gynecomasty c) poor beard growth; d) testicular atrophy e) mental retardation 204) CM Mutations may be: a) hypermorphic b) hypomorphic c) gene d) amorphic e) only somatic 205) CM Which of the following are gene mutations? a) translocation b) substitution c) monosomy d) insertion e) transversion 206) CM Substitution in one gene may induce: a) missens mutation b) nonsense mutation c) frame-shift mutation d) deletion e) amesens mutation 207) CM Which of the following mutations may be found in newborns? a) 92, XXXX b) 45, XY,-12 c) 47, XY,+8 d) 46, X, (Xq-) e) 45, X 208) CM Which of the following are non-equilibrated chromosomal errors? a) 46,XY, r(10)(p15q22) b) 45,XX, rob(14;21) c) 46,XY, inv(9)(p14q23) d) 46,X,i(X) e) 46,XX,del(4)(P15pter) 209) CM Which of the following errors are lethal? a) 69,XXX b) 45,Y c) 45,XY,-2 d) 46,XX, 9qh+ e) 47,XXY 210) CM Gene mutations may be: a) X-linked b) dominant c) induced d) phenotypic e) dynamic 211) CM Gene mutations may be: a) induced b) spontaneous c) equilibrated d) non-equilibrated e) somatic 212) CM Spontaneous mutations: a) appear under influence of physical, chemical and biological factors b) may be errors during replication c) may determine the lethal genes appearance d) have a constant frequency e) aren't predictable 213) CM Substitutions: a) modify only one amino acid b) modify the group of amino acids c) may annul another mutation d) may block synthesis of one polypeptide chain e) may modify structure of promoter, exons, introns or termination sequences 214) CM Dynamic mutations: a) are characterized by instability b) depend on the cell division c) depend on the trinucleotide repeats number d) determine differences in phenotypic manifestation in parents and offspring e) occur only during oogenesis 215) CM Gene mutations: a) modify the structure and functions of gene b) may be in introns c) may be only in exons d) change the reading frame e) mutant protein is always inactive 216) CM Phenotypic variability: a) modifications of traits in reaction norm limits b) modifications of traits out the limits of reaction norm c) has an adaptive role d) may be produced only during the prenatal period of development e) appears during entire life 217) CS Which from the following may lead to structural gene transcription block? a) non-sense mutation b) deletion of one codon c) frame-shift mutation d) deletion in TATA box e) deletion of one exon 218) CM Which of the following characterize Turner syndrome? a) short stature b) primary amenorhea c) neck of sphinx 15 GU EN d) testicular atrophy e) mental retardation 219) CM Man with Kleinfelter syndrome has genotype Xg(a+). His mother is Xg(a+) and his father is Xg(a-). Determine, when and where did occur gonosome non-disjunction in meiosis: a) non-disjunction in meiosis I, paternal b) non-disjunction in meiosis II, paternal c) non-disjunction in meiosis I, maternal d) non-disjunction in meiosis II, maternal e) post-zygotic non-disjunction 220) CM Choose the clinical trait in case of Patau syndrome: a) reduced fertility b) high stature c) non-development of eyes d) neck of sphinx e) polydactily 221) CM Which of the following does occur in newborn with Edward's syndrome? a) high stature b) short fingers c) non-development of eyes d) microcephaly e) big low-set ears 222) CM Which of the following are viable genome mutation in human? a) triploidy b) monosomy 21 c) monosomy X d) trisomy X e) trisomy 21 223) CS Which of the following is not a gene mutation? a) lethal b) dynamic c) aneuploidy d) amorphic e) isomorphic 224) CS Which of the following is not a characteristic of gene mutations? a) may be aneupoidy b) may be produced in promoter c) may appear as result of non-equal crossing-over d) the sequence of nucleotides is changed e) may be point 225) CS Which of the following is not a characteristic of modifications? a) modifications have adaptive role b) changes are produced in genetic material c) changes are determined by norm of reaction d) changes induced by environment factors e) changes in phenotype 226) CS Which mutation may be inherited? a) mutations cannot be inherited b) lethal c) generative d) somatic induce e) spontaneous somatic 227) CS Which of the following is not a characteristic of human chromosomal mutations? a) usually have an adaptive role b) appear in somatic cells c) are induced by mutagens d) may be structural e) may be numeric 228) CS Which mutation does not exist? a) phenotypic b) somatic c) that are inherited d) recessive e) lethal 229) CS Structural chromosomal mutations do not include: a) duplication b) monosomy c) deletion d) translocation e) inversion 230) CS Frame-shift mutations are produced by: a) insertion of two nucleotides b) duplication of three nucleotides c) substitution d) inversion e) loss of six consecutive nucleotides 231) CS Splicing mutations are caused by: a) mutation at 3' end of gene b) mutation is leader sequence c) mutations at limit between exon and intron d) mutations in exon e) mutations in promoter 232) CS which of the following may stop transcription? a) deletion of leader sequence b) deletion of TATA-box c) frame-shift mutation d) deletion of a codon e) nonsense mutation 233) CS What mutation may provoke loss of one amino acid? a) three nucleotide expansion b) deletion of three adjacent nucleotides c) insertion of one codon 16 GU EN d) deletion of one nucleotide e) substitution 234) CS Polyploidy represents: a) a modification b) a structural chromosomal mutation c) a genomic mutation d) an example of combinative variability e) a gene mutation 242) CM Which of the following are examples of modifications? a) albinism b) polydactylism c) development of music talent d) skin color changes under UV light e) the concentration of hemoglobin increases at low concentrations of oxygen in atmosphere 235) CM Somatic mutations: a) may change cell activity b) may induce a tumor c) may induce apoptosis d) are not inherited e) are inherited 243) CM Hereditary variations: a) represent the main sours of variations for selection b) change only phenotype c) represent the result of mutations and recombination d) are inherited through generations e) are determined by changes in genetic apparatus 236) CM Variability: a) assure selection b) may have an adaptive role c) may be determined by independent segregation of chromosomes in meiosis d) represent the propriety to obtain new traits e) is determined by exact replication of DNA 244) CM Norm of reaction: a) determines the range of recombination b) determines the range of mutations c) determines the range of modifications d) is genetically determined e) represents changes of genetic apparatus under environment 237) CM Mechanisms of gene mutations are: a) error during replication b) inversion of a sequence of nucleotide c) deletion of a chromosomal arm d) substitution of nucleotides e) deletion or addition of nucleotides 245) CM Individuality of each person is determined by: a) recombination during gametogenesis in both parents b) mutations that appear during the life c) exact replication of DNA during gametogenesis d) conditions of realization of genetic information e) new gene combination in zygote 238) CM Characteristics of gene mutations: a) assure formation of multiple alleles b) may produce chromosomal mutations c) appear under action of mutagens d) may be numeric e) may produce metabolic diseases 239) CM Characteristics of point mutations: a) may produce a shorter polypeptide b) may produce a synonym codon c) may be seen under microscope d) may produce a STOP codon e) change only phenotype 240) CM Substitution of one nucleotide induces: a) changes at level of one amino acid only b) a frame-shift mutation c) a missense mutation d) formation of a synonym codon e) formation of a nonsense codon 241) CM Characteristics of phenotypic variability: a) changes may occur in promoter b) new traits are inherited c) phenocopy is an example d) ontogenetic changes e) changes in limits of norm of reaction 246) CM Variability: a) always is determined by changes in genetic material b) explains family traits c) assures adaptation in new conditions d) is represented by different traits expressed in different members of a population e) represents the universal propriety of organisms to obtain new traits 247) CM Genomic mutations may be: a) point b) equilibrated c) generative d) autosomal e) somatic 248) CS Which type of inheritance is characterized by expressivity and penetrance? a) autosomal dominant b) autosomal recessive c) gonosomal dominant d) gonosomal recessive e) codominant 249) CS Which of the following criteria do not characterize dominant inheritance? 17 GU EN a) high frequency in the family b) expression in each generation c) if both parents are healthy they can have affected children d) if both parents are affected they can have healthy children e) if both parents are healthy they can have healthy children 250) CS Which of the flowing represents a criterion for recognition of gonosomal recessive inheritance? a) the continuity of the inheritance in each generation b) if both parents are affected, they may have healthy children c) an affected father may have both affected and healthy sons d) healthy mother always has healthy sons e) if both parents are healthy, only sons can be affected 251) CS In which type of inheritance the frequency of affected children significantly increases in case of consanguineous marriages? a) autosomal dominant b) autosomal recessive c) gonosomal dominant d) gonosomal recessive e) cytoplasmatic (mitochondrial) 252) CS Which of the following represents a criterion of recognition for gonosomal dominant diseases? a) affected father may have affected and healthy daughters b) affected father always have affected daughters c) affected father have affected sons d) affected parents may have healthy children: both boys and girls e) two healthy parents may have affected children 253) CS Which of the following represents a criterion of recognition for recessive diseases? a) high frequency in the family b) the continuity of the inheritance c) affected parents may have healthy children d) two healthy parents may have affected children e) affected father always has affected daughters 254) CS Which of the following represents a criterion of recognition for dominant diseases? a) low frequency in the family b) affected persons are not present in each generation c) affected parents have always affected children d) two healthy parents may have affected children e) high frequency in the family 255) CS Which of the following affirmations concerning abnormal monofactorial traits is wrong? a) they represent results of mutations in gene b) the phenotype depends on a single gene c) the phenotype depends on many genetic and environment factors d) they are pure hereditary traits e) are inherited according to Mendel lows 256) CS Which of the following affirmations concerning criteria for autosomal dominant inheritance is wrong? a) continuity in inheritance from one generation to another one b) high frequency in the family c) two healthy parents may have affected children d) two affected parents may have healthy children e) the frequency of affected children is not influenced if parents are relatives 257) CS Multifactoiral diseases: a) have a monogenic determination b) are independent on environment factors c) have a discontinuous distribution d) are produced by a mutation in a single gene e) are produced by mutations in a different non-allelic genes 258) CS Genealogical inheritance of abnormal monogenic traits: a) is produced according to Mendel lows b) is produced through somatic cells c) is produced exclusively by autosomal genes d) is produced exclusively by X-linked genes e) depends on environment factors 259) CS Which of the following affirmations concerning criteria for X-dominant inheritance is wrong? a) two affected parents may have healthy sons b) disease may be inherited from father to son c) if mother is healthy and father is affected only sons will be healthy d) heterozygous affected mother may have healthy children e) affected father affected has only affected daughters and healthy sons 260) CM What of the following can be identified using analyses of family trees? a) type of inheritance b) chromosomal abnormalities c) polygenic diseases d) congenital abnormalities e) the type of chromosome involved in disease 261) CM Variations in phenotypic manifestation of the autosomal dominant genes are determined by: a) non-complete penetrance b) chromosomal mutations c) variable expressivity d) mitochondrial mutations e) dynamic mutations 18 GU EN 262) CM Select the traits determined by the human genes with non-complete penetrance: a) Rh factor b) hemophilia c) sindactilia d) albinism e) polydactilia 263) CM Penetrance: a) represents the frequency of manifestation in phenotype of an autosomal recessive gene b) represents the frequency of manifestation of in phenotype a X-linked gene c) represents the frequency of manifestation of in phenotype an autosomal dominant gene d) may be complete and non-complete e) is characterized by variable phenotypic manifestation of the gene 264) CM Select correct affirmations concerning consanguinity: a) represents the marriage between two relatives b) increases the risk for recessive diseases c) increases the risk for dominant diseases d) risk for disease increases in case of X-linked dominant inheritance e) risk for disease increases in case of autosomal recessive inheritance 265) CM Monogeneic inheritance: a) corresponds to Mendel pattern of inheritance b) can be dominant or recessive c) an example is skin color d) may be multifactorial e) characterizes some diseases 266) CM Select genetic diseases with gonosomal recessive inheritance: a) Duchenne muscular dystrophy b) hemophilia c) albinism d) phenylketonuria e) Becker muscular dystrophy 267) CM Select genetic diseases with autosomal recessive inheritance: a) Duchenne muscular dystrophy b) phenylketonuria c) albinism d) Becker muscular dystrophy e) hemophilia 268) CM Select genetic diseases with autosomal dominant inheritance: a) achondroplasia b) hemophilia c) arahnodactilia d) albinism e) color blindness 269) CM Select wrong affirmations concerning dominant inheritance: a) low frequency in the family b) high frequency of consanguine marriages c) heterozygous persons are healthy d) heterozygous persons are affected e) two healthy parents may have affected children 270) CM Which of the following are criteria of recognition for dominant diseases? a) low frequency in the family b) healthy parents have always healthy children c) affected parents may have healthy children d) affected parents have always affected children e) the continuity of inheritance in the generation's succession 271) CM Which of the following are criteria of recognition for autosomal dominant diseases? a) affected father may have just affected daughters b) low frequency of disease in the family c) affected father may have affected and healthy daughters d) two healthy parents may have affected children e) two affected parents may have healthy children of both genders 272) CM Which of the following are criteria of recognition for autosomal recessive diseases? a) affected mother has all the sons affected b) two healthy parents may have affected children of both genders c) healthy parents have only healthy sons d) the continuity of the disease's inheritance in the generation's succession e) an healthy father may have affected daughters and sons 273) CM Which of the following are criteria of recognition for recessive diseases? a) affected parents may have healthy children b) healthy mother may have affected and healthy sons c) high frequency in the family d) affected parents have all affected children e) healthy parents may have affected children 274) CM In dominant inheritance an affected mother: a) may have affected sons b) may have healthy sons c) may have affected daughters d) may have healthy daughters e) all the children should be affected 275) CM Which of the following are criteria of recognition for X-recessive diseases? a) all the sons of affected mother should be affected b) all the daughters of affected mother should be 19 GU EN affected c) an affected mother cannot transmit the disease to her daughters d) healthy father has only healthy daughters e) two healthy parents may have just affected sons 276) CM The recognition of the hereditary disease is possible when the disease: a) has a higher frequency in particular family than in the population b) has a higher frequency in consanguineous marriages c) is present in all or almost members of the studied family d) is produced by somatic mutations e) follow the mendelian inheritance 282) CS The disease determinate by mutation in one gene is called: a) congenital b) monogenic c) autosomal d) dominant e) recessive 283) CS What diseases are produced as a result of interaction of genetic and environmental factors? a) chromosomal diseases b) multifactorial diseases c) monogenic diseases d) enzymopathies e) X-linked diseases 277) CM Family tree analysis is used for: a) identification if the trait is hereditary or environmental b) identification of distribution of genotypes in population c) identification of chromosomal aberrations d) identification type of inheritance e) prenatal diagnosis 284) CS In which type of inheritance the gene has phenotypic expression only if two identical alleles are present? a) autosomal recessive b) autosomal dominant c) X-linked d) multifactorial e) Y-linked 278) CM Dominant traits are determinate by: a) phenotypic expression of one allele in heterozygous b) for phenotypic expression identical alleles are required c) homozygous and heterozygous persons have the same traits d) environment factors only e) pairs of dominate non-allele genes 285) CS Diseases expressed in newborn are called: a) congenital b) monogenic c) autosomal d) dominant e) recessive 279) CM Which from the following traits are polygenic? a) the stature b) iris pigmentation c) haptoglobins d) MN blood system e) physical abilities 280) CM Which of the following are criteria of recognition for polygenic traits? a) correspond to the mendelian pattern of inheritance b) display a wide phenotypic variation c) the diseases are more frequent in consanguineous marriages d) have a familial aggregation e) are produced in males only 281) CM In which type of diseases environmental factors have a high importance? a) autosomal dominant b) autosomal recessive c) gonosomal d) polygenic e) multifactorial 286) CS In a family both parents are healthy and the first child has phenilcetonuria (autosomal recessive disease). What is the risk for disease for the next child? a) 5% b) 10% c) 25% d) 50% e) 75% 287) CS In a family both parents are healthy the first child has mucoviscidosis (autosomal recessive disease) and the second child is healthy. What is the risk for disease for the next child? a) 5% b) 10% c) 25% d) 0% e) 50% 288) CS In a family the mother is a carrier of Duchenne muscular dystrophy gene (X-liked disease), and the father is healthy. What is the risk for disease for the next child? a) 5% b) 10% for both sexes c) 25% just for daughters d) 0% 20 GU EN e) 50% just for sons e) Robertson's translocation 289) CS The frequency of what diseases will increase if mother is older than 35? a) multifactorial b) X-recessive c) autosomal recessive d) autosomal dominant e) chromosomal 296) CS The cause of monogenic hereditary diseases can be? a) structural chromosomal abnormalities b) number chromosomal abnormalities c) Robertson's translocation d) gene's mutation e) the influence of environment's factors 290) CS In a family mother has phenylketonuria (autosomal recessive disease), and father is homozygous by normal allele. What is the risk for disease for the next child? a) 5% b) 10% c) 25% d) 0% e) 50% 297) CS The cause chromosomal disease is: a) gene mutation b) somatic mutation c) mitochondrial mutation d) genome mutation e) "frame shift" mutation 291) CS For what type of inheritance consanguinity increases the risk for diseases? a) multifactorial b) autosomal recessive c) autosomal dominant d) cytoplasmic (mitochondrial) e) X-dominant 292) CS Marfan syndrome is inherited as: a) autosomal dominant b) autosomal recessive c) X-recessive d) X-dominant e) polygenic 293) CS In a family the father has Marfan syndrome (autosomal dominant disease) and mother is healthy. What is the risk for disease in this family? a) 5% b) 10% c) 25% d) 50% e) 75% 294) CS In a family the mother is healthy (her parents are healthy too), and the father has hemophilia (Xlinked recessive disease). What is the risk for disease in this family? a) 50% for daughters only b) 50% for both genders c) 25% for sons d) 0% for both genders e) 50% for sons only 295) CS Genic diseases are determinate by: a) chromosomal deletion b) increased number of chromosomes c) a reciprocal translocation d) a gene mutation 298) CS Which of the following cannot be used for prenatal diagnosis? a) ultrasonography b) amniocentesis c) dermatoglyphics analysis d) phetoscopy e) alpha fetoprotein 299) CS Which of the following measures is not reported to the hereditary diseases prophylaxis? a) identification of some recessive alleles' carriers b) identification of some dominant alleles carriers c) identification of poised (equilibrated) translocation's carriers d) reduction of the parent's age of reproduction e) avoidance of consanguineous marriages 300) CM Which of the following are the characteristics of dominant genes? a) powerful genes b) weak genes c) express in homozygotes and heterozygotes d) express in homozygotes only e) may be only normal 301) CM Which of the following are the characteristics of recessive genes? a) powerful genes b) weak genes c) express in homozygotes and heterozygotes d) express in homozygotes only e) may be only abnormal 302) CM Choose the types of allele interactions: a) dominancy b) epistasis c) codominancy d) additive polygeny e) multiple alleles 303) CM Choose the types of non-allele interactions: a) codominancy 21 GU EN b) epistasis c) gene complementarity d) additive polygeny e) multiple alleles b) 47,XY,+21 c) 45,XX,rob (21;21) d) 46,XX/47,XX,+21 e) 46,XY/47,XY,+21 304) CS Which of the following is not a characteristic of genetic disorders? a) inheritance b) familial aggregation c) prenatal determination d) congenital manifestation e) always is present in newborn 311) CS Phenocopy is an example of: a) recombination b) mutation c) modification d) ontogenetic variability e) translocation 305) CS Roberts's translocation: a) is the most common translocation found in man b) represents the fusion of short arms of metacentric chromosomes c) represents the fusion of long arms of submetacentric chromosomes d) represents the fusion of short arms of acrocentric chromosomes e) represents the fusion of long arms of acrocentric chromosomes 306) CM Which of the following lead to partial trisomy? a) duplication b) isochromosome c) deletion d) inversion e) translocation 307) CM Which of the following is the partial monosomy? a) duplication b) isochromosome c) deletion d) inversion e) translocation 308) CS Which of the following karyotypes doesn't refer to Turner syndrome? a) 45,X b) 45,X/46,XX c) 46,XXq+ d) 46,XXqe) 46,XXp- 312) CS Genocopy is an example of: a) recombination of allele genes b) mutation of non-allele genes c) mutation of allele genes d) ontogenetic variability e) modification 313) CM Genetic disorders may be: a) ecological b) monogenic c) polygenic d) multifactorial e) chromosomal 314) CS Which of the following is not a chromosome disease? a) Patay syndrome b) Marfan syndrome c) Down syndrome d) Edward's syndrome e) Turner syndrome 315) CS Which of the following is a monogenic disease? a) Patay syndrome b) Marfan syndrome c) Down syndrome d) Edward's syndrome e) Turner syndrome 316) CM Chromosome diseases may be: a) numerical b) multifactorial c) monofactorial d) structural e) gonosomal 309) CS Which of the following karyotypes doesn't refer to Klinefelter syndrome? a) 47,XXY b) 47,XYY c) 48,XXXY d) 48,XXYY e) 49,XXXXY 317) CM Gene diseases may be: a) numerical b) multifactorial c) monofactorial d) structural e) gonosomal 310) CS Which of the following karyotypes doesn't refer to Down syndrome? a) 47,XX,+21 318) CM Choose from the following the indications for karyotyping: a) mental retardation 22 GU EN b) hemolytic disease of new born c) ambiguous genitalia d) sterility e) multiple malformation of newborn 319) CM Multifactorial diseases: a) are produced just by multiple abnormal genes b) usually are common disorders c) may be present as isolated malformation d) produced by genes and environmental agents e) don't depend on environmental factors 320) CS Which of the following is not a characteristic of congenital anomalies? a) are produced after birth b) are produced during embryogenesis c) may be isolated or multiple d) may appear as result of phenocopy e) are produced by genetic or environmental factors 321) CM Mitochondrial diseases: a) are produced by mutations in nuclear DNA b) are produced by mutations in mtDNA c) have paternal inheritance d) have maternal inheritance e) are present only in woman 322) CM Primary prophylaxis refers to the: a) early identification of genetic disorder b) later identification of genetic disorder c) prenatal identification of genetic disorder d) avoiding of the production of genetic disorders e) treatment of genetic disorder 323) CS Secondary prophylaxis refers to the: a) early identification of genetic disorder b) later identification of genetic disorder c) prenatal identification of genetic disorder d) avoiding of the production of genetic disorders e) treatment of genetic disorder 324) CM Primary prophylaxis could be achieved by the following actions: a) prevention of mutation b) reduction of reproductive age under 30 years in women c) reduction of reproductive age under 50 years in men d) heterozygote identification e) homozygote identification 23