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1 The rules of the contest •There are 6 groups,3 groups from each sections and each group includes 3 students ; •There are single choose questions, ,rushing to answer question(true or false and fill in the blank), short /long answer questions and audient answer question. •Short and long answer questions will scored by the judges . 2 The first round single choose questions The rules of the round There are 5 choices(A,B,C,D,E),among them only one answer is correct. each students must be answer one question from each group, if correct 50marks will be added,if wrong discount any marks。 3 4 5 Choose below please Table tennis banana coke math lemon tomato physics Badminton Water melon Mahmud tea biology Baseball apple juice surgeon Football orange milk physician Cricket 6 • 1 Coding part of eukaryotic gene is below: •A. exon B. intron C. promotor •D. enhancer E. poly A Answer:A 返回 7 2 Match the pedigree with the most likely mode of inheritance. A. AD B. .AR C. XD D. XR E. Y Answer:B 返回 返回8 3 Which of the following is not a numerical chromosomal abnormality? A.polyploidy B. robertsonian ranslocation C. triploidy D. trisomy E. aneuploidy Answer:B 返回 9 10 •4· A woman with an X-linked dominant disorder(heterozygote) mates with a phenotypically normal male. On average, what proportion of this couple's daughters will be affected with the disorder? •A. 0.1 B. 0.5 C. 1 •D. 0.25 E. 0 Answer:B 11 返回 • 5· Which of the following individuals has the highest risk of having a child with Down syndrome? A.a female with a t (13q; 14q) B. a male with a t (13q; 14q) C. a female who is 35 years old D. a male who is 45 years old E. a female with a t (14q; 21q) Answer:E 返回 12 6 Which statement about Down syndrome is false? A. The frequency increases dramatically in mothers over the age of 40 B. The cause is a non-disjunction when chromosomes do not separate during the first meiotic division C. Affected individuals have an extra autosome D. The long time lag between onset of meiosis in ovarian tissue (during fetal development) and its completion (at ovulation) is most likely the reason for increased incidence in older mothers E. None, all statements are true Answer:E 返回 13 14 • 7 A human male carrying an allele for a trait on the X chromosome is: •A. heterozygous B. homozygous •C. hemizygous • D. monozygous E. holozygous Answer:C 返回15 Answer:B • 8 Two normal individuals who both have achondroplasia (autosomal dominant disorder) mate. What is the occurrence risk for this disorder in their offspring? •A. 25% B. 50% C. 75% D.100% E. 0% 返回16 9.Why would you predict that half of the human babies born will be males and half will be females? A. Because of the segregation of the X and Y chromosomes during male meiosis B. Because of the segregation of the X chromosomes during female meiosis C. Because all eggs contain an X chromosome D. Because, on average, one-half of all eggs produce females E. Because of the formation of the Barr body early during embryonic development Answer:A 17 返回 18 • 10 Inheritance base of polygenic inheritance pattern are multigenes which are •A. codominance, no additive affects •B. codominance, additive affects •C. incomplete dominance, no additive affects • D. incomplete dominance, additive affects • E. delayed dominance, additive affects Answer:B 返回 19 11. Klinefelter's syndrome (XXY) is an example of chromosomal aneuploidy that can be readily diagnosed by: A.Behavioral analysis B.Somatic cell genetics C.Karyotyping D.Biochemical analysis E.Pedigree analysis Answer:C 返回 20 12Which is NOT a common method used in human genetic analysis? A.pedigree analysis B. karyotyping C. RFLP analysis D. test cross E. somatic cell genetics 返回 Answer:D 21 22 13. Albinism carrier married with albinism patient what is the most likelihood of the albinism among the offspring? A. 9/26 B. 1/2 C. 1 /4 D. 3/8 E. 3/4 Answer:B 返回 23 14. A gene that determines color perception is on the X chromosome of humans. The dominant allele confers color vision; the recessive leads to color blindness. A heterozygous woman, with normal color vision, marries a man with normal color vision. What is the probability that their son will be color blind? A. 0 B. 1\4 C. 1\3 D. 1\2 E. 2\3 返回 24 Answer:D 25 15. A Barr body (X chromatin) is: A. the cause of Down's syndrome B. an amplified gene C. a polytene chromosome D. a ribonucleoprotein particle E. an inactivated X chromosome 返回 26 • Answer:E 27 28 16.A man with a Mendelian syndrome marries a normal woman. Of their 9 children, all 4 boys are normal, whereas all 5 daughters are affected by the same syndrome. What is the most likely inheritance pattern for this syndrome? A.autosomal dominant B.autosomal dominant with female preponderance C. X-linked dominant D. Y-linked E. autosomal recessive 返回 29 Answer:C 30 17. A Down syndrome patient is a A.Euploid B. Triploid C. Hypodiploid D. Hyperdiploid E. Monosomy . D 返回 31 18. Which of the following cell types would have the greatest number of chromosomes? A. a human egg cell B. a human sperm cell C. a human zygote D. a human gamete E. all have the same number of chromosomes C 返回 32 The Second Round The rules of contest: Each group must be answer one question,group members can discuss in I minute,one of the contestant answer question,each question100marked. 33 2 7 3 1 4 6 5 34 1 Describe the pedigree characteristics of AD. 35 Answer: 1. Each affected individual has one affected parent. 2. 50% of sibs are affected. 3. Males and females are affected with equal probability. 4. Passed in vertical fashion. 36 2 Blood type A male (heterozygote) mate with blood type AB female, what are the probabilities of the blood types of their child? 37 Answer: A bloodtype: 50% B bloodtype: 25% AB bloodtype: 25% 38 3 The diagram below is a pedigree of a common trait. (1).Give the most likely pattern of inheritance and carefully explain your reasoning. (2). Write the genotype of Ⅰ2, Ⅱ2, Ⅲ4, Ⅳ4. Use "A" to indicate a dominant gene and "a" to indicate a recessive gene. 39 Answer: (1) Autosomal recessive. Reasons: (a)Generation Ⅱ and generation Ⅲ have not any affected individual. These indicates that the pedigree inherit by recessive mode. (b)The number of affected male and affected females is equal approximately. And, we did not find the phenomenon of criss-cross inheritance. (2). Ⅰ2: aa Ⅱ2:Aa Ⅲ4:Aa Ⅳ4:aa 40 4 What is single gene disorder? Please write the main types of it. 41 Answer: Single gene disorder: the disorders that are due to single mutant genes (major gene) with a large effect on the patient's health and inherited in Mendelian fashion Main types: Autosomal dominant diseases (AD) Autosomal recessive diseases (AR) X-linked dominant diseases (XD) X-linked recessive diseases (XR) Y-linked diseases Mitochondrial disorder 42 5Please describe the approaches of genetic diseases. 43 Answer: 1. History of disease, Symptoms and body Signs 2. Pedigree analysis 3. Cytogenetics checking 4. Biochemical checking 5. DNA molecular diagnosis or Gene diagnosis 44 6Describe the standard classification of chromosome (Denver Classification). 45 Answer: 46 Describe the mechanism and pathogenesis of sickle cell anemia 47 Answer: 48 49 Fill in the blank 1 A genetic trait which is measurable characteristics called . quantitative trait 50 True or false •2.Familiar diseases are same with genetic diseases. F 51 True or False 3.If sons inherit fathers phenotype is called Y-linked inheritance. T 52 •True or False •4.If the threshold of the persons is high, the less probability of the person have affected in polygenetic diseases. 53 True or False Individuals who carry a balanced chromosome rearrangement cannot have normal children. 54 Fill in the blank 6.Ⅱ2 in the genetic pedigrees stand for ( ) 55 second person of second generation 56 Fill in the blank The reasons of euploid are diandry , digny ---------- and endoduplication.. endomitosis 57 Fill in the blank 8, Types of deletion are -------and INTERSTITIAL . Terminal 58 Fill in the blank 9. The reasons of aneuploid are chromosome loss and --------. 59 chromosome dysjunction 60 Fill in the blank . 10.Phenylketonuria is caused by an absence or deficiency of . phenylalanine hydroxylase 61 Fill in the blank 11.Albinism is caused by an . absence or deficiency of-----------------.. Tyrosinase 62 • 12.( ) is the kind of chromosome in which centromere near one end, with arms of very different lengths 63 submetacentric chromosome 64 •Audients answer questions 65 True or False 1 Recurrence risk increases with the number of affected in a family in polygenic disease. T 66 •2 A female with blood group A and a male with blood group B have a son whose blood group is O. The chance that their next child will have blood group O is •A.1\2 B.1\4 C.1\3 •D.3\4 E.2\3 B 67 •3 ‘B’ represents the gene for a dominant trait and ‘b’ its recessive allele. If Bb mates with bb: •A. All offspring will be of the recessive phenotype. •B. All offspring will be of the dominant phenotype. •C. 50% of the offspring will be of the recessive phenotype. •D. 25% of the offspring will be of the dominant phenotype. •E. 75% of the offspring will be of the dominant phenotype. C 68 4.Which of the following would Not help to distinguish autosomal dominant from autosomal recessive inheritance? A. presence of consanguinity B. sex ratio of affected individuals C.appearance of the disease phenotype in multiple generations of the family D. proportion of affected offspring in each mating E. all of the above B 69 Chromosome abnormalities account for 50 percent of miscarriages. 70 71 NTD diagnosis technology including A.amnionic AFP B. acetylcholinesterase C. target ultrasonography D.A+B+C E. not all of them 72 73 All of the below are the normal chromosomal structure Except below A.centromere B. telomere C. fragile site D. satellite E. primary constriction 74 75 Encountered one of the following circumstances, which should Not be recommended for chromosome checks: A.Family chromosome abnormality has been found in the individual or congenital malformations. B. Multiple abortions of women and her husband. C.Pregnant women under the age of 35. D. Primary amenorrhea and the men and women who Infertility. E. There are internal and external genital malformations, gender 76 77 The rules of the game: Each participating team optional choose different valued one question and after discussions for one minute in team, choose one participant to answer the question. 78 Choose me! 79 1 4 5 6 7 2 3 80 1. What are the differences between the qualitative trait and quantitative trait? 81 返回 1ANSWER: Qualitative trait: genetic traits which are present or absent. One has the trait or not. The distribution in a population is discontinuous. Quantitative trait: genetic traits which are measurable characteristics. The distribution in a population is continuous. 82 2. Please write the pedigree characteristics of X-linked dominant inheritance. 83 2Ans: (1) the ratio of affected females to the males is approximately 2 to 1. (2) each affected individual has one affected parent. (3) all daughters of affected males are affected, all sons of affected males are normal; 50% offspring of affected female have chance of being affected. (4) padded in a vertical fashion. 返回 84 3.Please write the different types of autosomal dominant inheritance. 85 3 Ans: (1) complete dominance (2) incomplete dominance or semidominance (3) codominance (4) irregular dominance (5)delayed dominance 返回 86 4. Please write the pedigree characteristics of autosomal recessive inheritance. 87 4 Ans: (1)Both parents are carriers. (2)25% of sibs are affected. Males and females are affected with equal probability. (3)2/3 of unaffected sibs are carriers. (4)The diseases are sporadic. (5)The risk of offspring is higher in consanguineous marriage. 返回 88 5Describe the levels of diagnosis of genetic diseases ? 89 Symptomatic diagnosis Presymptomatic diagnosis Prenatal diagnosis. 返回 90 6 Describe chromosomal nondisjunction 91 Nondisjunction occurs when the normal separation of the chromosome pairs during mitosis or meiosis is disrupted. If nondisjunction occurs in mitosis, it would be couse mosaics; If nondisjunction occurs in first phase of meiosis , all the gametes will be abnormal. If nondisjunction occurs in second phase of meiosis , 50% gametes will be abnormal. 返回 92 •The chromosome analysis is indicated in many clinical conditions for proper diagnosis of genetic diseases: 93 Congenital malformations Mental retardation Repeated abortion Sex determination Prenatal diagnosis 返回 94 1 4 5 6 7 2 3 95 1 Describe the inheritance characteristics of polygenic disease. 96 1ANSWER: 1. First degree relatives have the high risk of affected. Risk of affected relatives’ falls off very quickly with the degree of relationship. 2. Consanguinity also increases the probability of an affected child for a multifactorial trait. But only slightly when compared to rare AR diseases. 3. Recurrence risk increases with the number of affected in a family 4. Recurrence risk increases with severity of the defect 5. Carter-effect: If the sex distribution of a trait is not uniform, relatives of an affected individual of the less frequently manifesting sex are more likely to have problems 返回 97 2 A woman with blood type A has a child with blood type O. She claims that a friend of hers is the child’s father.(a) His blood type is B. Can he be excluded as the child’s father on this evidence alone? Give reasons.(b) Does the additional information that both his parents actually are blood type AB permit him to be excluded? Why or why not? 98 2Answer (a) No, he can not be excluded as the child’s father. Reason: the woman is blood group B and she has a child with blood group O, we can conclude that this woman is heterzygote. If the man is also heterzygote with blood group B, then they will have the chance to produce a child with blood group O. (b) Yes, he can be exclude as the child’s father. Reason: his parent are all blood group AB, so, he have not chance to inherited a recessive gene (i). Then, he have not chance to have a child with blood group O. 返回 99 The father of a certain family belongs to blood group AB, and the mother to blood group O. They have four children, one belonging to AB, one to A, one B and one O. One of these children is adopted and another is a child from an earlier marriage of the mother. State which is the adopted child and which is the child from an earlier marriage and why? . 100 3 Ans: The child belonging to blood group AB is adopted. Blood group O is the child from an earlier marriage. Because parents are blood group AB and O respectively, they will have child with blood group A or B. Mother belong to blood group O, she have not any chance to have a child with blood group AB, but she have the opportunity having a child with blood group O. 101 返回 4 What are the different names, clinical features and karyotypes of Down’s syndrome? 102 Different names: Down syndrome or trisomy 21 syndrome Clinical futures: Growth retardation Varying degrees of mental retardation Flattened face Upward slanting of the eyes with epicanthal folds Simian crease open the mouth diminished muscle tone congenital heart disease big toe wildly spaced big tongue 返回 103 • • • • • • • • Karyotypes: Trisomy ——47, XX(XY), +21 Mosaic ——46 , XX(XY)/47 , XX(XY), +21 Unbalance translocation Karyotype of affected: 46, XX(XY), -14, +t(14q21q) Karyotype of balance carrier: 45, XX(XY), -14, -21, +t (14q21q) 104 5 Describe the mechanism, clinical futures, and treatment of PKU. 105 Mechanism :is caused by an absence or deficiency of phenylalanine hydroxylase. The result is a 20-fold increase in the levels of pheylalanine in the blood. Clinical futures: Untreated leads to mental Retardation, Associated complications: behavior disorders, cataracts, skin disorders, and movement disorders Treatment: phenylalaine restricted diet (specialized formulas available) 返回 106 6.What are the Sickle cell anemia (describe pathogenesis, mechanism, treatment) 107 108 返回 • Treatment • Blood transfusion is used to – Control severe anemia – Reduce the risk of complications of sickle hemoglobinopathies (cerebrovascular accident, hypersplenism, etc.) – Excess iron can cause the appearance of sideroblastic conditions – Transfusion interferes with the typical laboratory findings for the disorder. • Alternative treatment: – Activation of fetal hemoglobin genes – Bone marrow transplantation 109 7 What is the difference between a chromosome abnormality and a genetic disorder? 110 • A chromosome abnormality is caused by the presence of extra or missing chromosome material. The genes in a person with a chromosome abnormality are normal. • It is the number of genes (increased or decreased) that is abnormal. • A genetic disorder is caused by a change in a single gene, or genetic message, coding for a particular protein. 返回 111 112 113