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AP BIOLOGY Chapter 14 & 15 Review http://www.fisterra.com/human/3arte/pintura/temas/enanos/enanos.asp http://www.jic.bbsrc.ac.uk/germplas/pisum/zgs4f.htm If a person has Type A blood what possible genotypes could she/he have? IAIA or IAi autosomal recessive MALES can be carriers for _______________________disorders A. autosomal recessive B. X linked recessive C. neither of these; males can never be carriers DOWN SYNDROME Trisomy-21 is also called ______________________________ What is the genotype of an organism used in a testcross with an unknown dominant looking parent? HOMOZYGOUS RECESSIVE Name an X-linked genetic disorder you learned about. Hemophilia, colorblindness, Duchenne Muscular dystrophy A person who has a copy of the gene for a recessive disorder but doesn’t show the disorder is called a carrier _________________ This diagram is called a karyotype __________________ This person is a __________ male female Female There are 2 X and no y chromosomes. If a person has Type B blood what possible genotypes could she/he have? IBIB or IBi The cell that forms when an egg and a sperm join together is called a _______________ zygote Name the molecules on the surface of cells that are involved in “recognition of self” and which produce blood type. glycoproteins Type of mutation in which a deleted fragment joins a nonhomologous chromosome translocation http://ascensionparish.net/forum/messages/14/2493.jpg Explain why male calico cats can only have one color of spots. Spot color gene is carried on the X chromosome and males only have one X…. so can only have one color of spots Chromosomes that DON’T determine sex are autosomes called ____________________ A trait that is controlled by several genes (like skin color or height) is called Polygenic ______________ Give an example of an autosomal dominant lethal genetic disease that you learned about. Huntington’s ; Achondroplasia (dwarfism) A trait in which there are three or more choices for a single gene (like A, B, and O blood type) is a Multiple allele trait. ____________ polygenic multiple allele Give an example of Y linked gene. Hairy ears (pinna) SRY EPISTASIS ________________ is when the gene at one locus alters the expression of a gene at another locus. Name the pattern of inheritance in which heterozygous individuals show a blended phenotype like when crossing pure red and pure white flowers produces pink flowers. Incomplete dominance PLEIOTROPY ________________ is when one gene produces multiple phenotypic effects. Name the pattern of inheritance in which both alleles are expressed in a heterozygous individual like A and B alleles producing AB type blood. Codominance Type of mutation in which a chromosome receives extra copies of a gene See a Video duplication A body cell is also called a ______________ SOMATIC cell. LETHAL ______________ mutations cause death often before birth. Twins which don’t separate entirely and remain CONJOINED attached by some body part are called ______________ Tell the sex of a human or other mammal with the Xy genotype male Tell the sex of a bird with ZW genotype. Females are ZW; males are ZZ True or false. Male bees don’t have fathers. TRUE; Male bees are haploid. They develop from unfertilized eggs Female bees are diploid A B E C D Which person(s) shows the genetic trait? A Which person(s) is/are male? A, C, E Which person(s) is/are female? B, D Which person(s) is/are carriers for this trait? D Which person(s) DO NOT show the trait? B, C, D, E Name this diagram used to show how traits are passed in families. pedigree Show up more frequently in males X-linked genes _______________ A. Only show up in females B. Show up more frequently in males C. can be heterozygous in males D. only pass from mothers to daughters Which pattern would you expect to see when crossing parents that are heterozygous for two genes? 9:3:3:1 9 – Dominant Trait 1; Dominant Trait 2 3- Dominant Trait 1: Recessive Trait 2 3 – Recessive Trait 1; Dominant Trait 2 1- Recessive Trait 1: Recessive Trait 2 Name the disease that individual’s who are heterozygous for the sickle cell allele show resistance to. malaria males females African Americans Jewish/Middle Easterners Caucasians Sickle cell anemia is more common in African Americans _____________ Caucasians Cystic fibrosis is more common in ___________ Jewish/ Tay Sachs disease is more common in _______________ Middle Easterners males X-linked traits are more common in ___________ What would the blood cell of a person with IBi genotype look like? A person with this type of blood could DONATE to Type _________ B or AB A gene that is carried on the X chromosome X-linked is called __________________ trisomy 2n + 1 chromosomes = _________________ Name the functional group added to DNA when a gene is imprinted. Methyl – CH3 Mutation in which a piece of DNA breaks off and attaches to a nonhomologous chromosome translocation See a Video is called _________________ monosomy 2n-1 chromosomes = ________________ Phenomenon in which repression of an allele in offspring depends on whether the allele is inherited from the mother or father Genomic imprinting Dark spot in the nucleus made when one of the X chromosomes in females is inactivated = BARR BODY Failure of homologous chromosomes to separate nondisjunction during meiosis = ________________ Two genes that are close together on the same low chromosome would show a _______ crossing over frequency. high low Technique in which a needle is inserted into the amniotic sac and fluid containing embryonic cells is removed for analysis amniocentesis Which of the following is NOT visible in a karyotype ? Sickle cell is a point mutation; Sex of baby not visible in a karyotype Down syndrome Turner syndrome Sickle cell disorder Name disorders that are: Autosomal Dominant ________________ Huntington’s ________________ Achondroplasia Autosomal Codominant ___________________ Sickle cell disease What would the blood cell of a person with IAIB genotype look like? A person with this type of blood could DONATE to Type ________ AB only Which parent determines the sex of the baby? father What is the difference between a germ cell mutation and a somatic cell mutation? Somatic cells are body cells and mutations in these cells are NOT passed on to offspring. Germ cells are reproductive cells. Mutations in these cells CAN be passed on to offspring. Other name for “Dwarfism” Achondroplasia TRUE or FALSE Females can be carriers for X linked genes. True; they have 2 X chromosomes. So they can have one normal gene and one mutant gene. Inheritance of traits transmitted by mechanisms not directly involving the nucleotide sequence (includes gene methylation and imprinting) Epigenetic inheritance Name 3 disorders that are: Autosomal recessive _______________(PKU) Phenylketonuria Tay-Sach’s ________________ Cystic fibrosis ________________ X linked recessive _______________ Hemophilia Colorblindness _______________ Muscular dystrophy _______________ Name 3 disorders that is caused by nondisjunction: ___________________ Down syndrome ___________________ Turner’s syndrome ___________________ Klinefelter’s syndrome The cell that forms when an egg and a sperm zygote join together is called a _______________ Technique in which a narrow tube is inserted through the cervix and a sample of tissue from the placenta is removed for analysis Chorionic villi sampling Greater reproductive success of heterozygous individuals compared to homozygotes which tends maintain the presence of alleles for genetic disorders in the gene pool Heterozygote advantage Why do X-linked recessive disorders show up more in males than females? Males only have one X. If they get the gene it will show. Females have a 2nd X that can “hide” the disorder gene. They need 2 copies of the gene to show disorder. Males don’t have a “back up” X. How are monosomic and haploid cells different? Monosomic cellshave two of every chromosome except one (2n-1) Haploid cells have one of each chromosome (1n) Exchange of genetic material between homologous chromosomes during prophase I Crossing over Organisms with two identical alleles for a trait homozygous are called ________________ What disorder is it? Mutation in the blood clotting protein makes Hemophilia person unable to stop bleeding after an injury _______________ Mutation in hemoglobin causes red blood cells to change shape and ____________________ Sickle cell anemia leads to a variety of symptoms Phenylketonuria (PKU) Mutation causes mental retardation if foods containing phenylalanine are eaten _____________________ Three #21 chromosomes are present causing mental retardation Down syndrome _______________________ Mutation in ion channel protein causes thick mucous to clog up lungs and Cystic fibrosis digestive organs _______________________ How is a trait different from an allele? Traits are the observed characteristic (EX: flower color) Alleles are the alternative choices for a trait (EX: red or white) Crossing individuals from the P1 generation F1 generation produce the ____ Organisms with two different alleles for a trait heterozygous are called ________________ Allele that is fully expressed in the phenotype of a heterozygote DOMINANT Crossing individuals from the F1 generation F2 generation produce the ____ An organism’s genetic makeup = genotype _______________ What would the blood cell of a person with ii genotype look like? Type O has neither A or B Glycoproteins A person with this type of blood could DONATE to Type _________ O, A, B O is the universal donor and AB Dominant/recessive? Autosomal/X-linked/nondisjunction Turner syndrome Nondisjunction ____________________ Cystic fibrosis ____________________ Autosomal recessive Hemophilia _____________________ X-linked recessive Colorblindness X-linked recessive __________________ Autosomal recessive Phenylketonuria ___________________ X-linked recessive Duchenne muscular dystrophy ________________ Allele that is not expressed in the phenotype of a heterozygote and requires two copies to show recessive phenotype An organism’s appearance = _______________ Another name for heterozygous = hybrid Mutation in which a chromosomal fragment breaks off and reattaches backwards inversion See a Video The following recombination frequencies were found. Determine the order of these genes on the chromosome. A, C = 10% A, D = 30% B, C = 24% B,D = 16% Campbell and Reece Ch15 ?’s What disorder is it? Mutation in the blood clotting protein makes Hemophilia person unable to stop bleeding after an injury _______________ Mutation in hemoglobin causes red blood cells to change shape and ____________________ Sickle cell anemia leads to a variety of symptoms Phenylketonuria (PKU) Mutation causes mental retardation if foods containing phenylalanine are eaten _____________________ Three #21 chromosomes are present causing mental retardation Down syndrome _______________________ Mutation in ion channel protein causes thick mucous to clog up lungs and Cystic fibrosis digestive organs _______________________ A I ii B A B B I I I I i A ii I i ii F F T T F T The alleles for blood type show 2 patterns of inheritance. The following statements are TRUE or FALSE? A is dominant over B. A & B are codominant O is dominant over A. O is recessive to both A & B A is dominant over O. B and A are co-dominant A is incompletely dominant over O. O is recessive to A and to B What disorder is it? Conjoined twins Twins that are born joined together ____________________ Klinefelter syndrome Males with an extra X chromosome ______________________ (XXY) karyotype; some female features; infertility Lipids build up in brain causing Tay-Sachs blindness, retardation, & early death _________________________ Achondroplasia Disorder in bone growth so torso __________________________ and head are normal size but arms and legs are short Twins born at the same time but which are produced from two different sperm and eggs DIZYGOTIC or FRATERNAL are called ___________________ Tell the type of mutation that causes sickle cell disease substitution AB blood is called the “universal Type ____ recipient” Identical twins produced from one sperm and one egg are called ___________________ MONOZYGOTIC or MATERNAL Tell the type of mutation that causes Huntington’s disease Duplication/insertion; extra CAG repeats O blood is called the “universal donor” Type ___ What would the blood cell of a person with IAi genotype look like? A person with this type of blood could DONATE to Type _________ A or AB Dominant/recessive? Autosomal/X-linked/nondisjunction Phenylketonuria Down syndrome Autosomal recessive ____________________ nondisjunction ____________________ Sickle cell anemia Klinefelter syndrome Autosomal CODOMINANT _____________________ nondisjunction ____________________ Autosomal dominant Huntington’s disease ______________________ Autosomal recessive Tay-Sachs _________________ Name the X-linked genetic disorder found in a pedigree of the royal families of Europe HEMOPHILIA Which of the following human diseases is inherited as a simple recessive trait? Tay-Sachs A. Tay-Sachs disease B. cancer C. diabetes D. Alzheimer’s disease E. cardiovascular disease Campbell and Reece Chap 15 ?’s In guinea pigs, brown coat (B) is dominant over red (b) and solid color (S) is dominant over spotted (s). What proportion of the offspring of a heterozygous dihybrid cross would be expected to be 3/16 brown and spotted? ____ 9/16 brown and solid? ____ 1/16 red and spotted? ____ 3/16 red and solid ? ____ http://pettalk.com.au/blogs/media/blogs/PetBlog/14469822_7-guinea-pig_b.jpg What is the critical value used when calculating Chi-square? 0.05 How are degrees of freedom calculated when determining Chi-square? # of groups - 1 A Chi-square value that is less than the p-value ACCEPT means you should __________ the null hypothesis. accept reject For the following crosses, determine the probability of the indicated genotype in an offspring. AAbb X AaBb AAbb 1X½ X1X½=¼ AaBB X AaBb aaBB ½ X ½ X 1 X ½ = 1/8 AABbcc X aabbCC AaBbCc 1 X 1 X ½ X 1 X 1 X 1 =1/2 AaBbCc X AaBbcc aabbcc ½ X ½ X ½ X ½ X ½ X 1 = 1/32 Campbell and Reece Chap 14 ?’s What disorder is it? Gradual deterioration of the brain that appears during middle age resulting in nursing home care and early death Huntington’s ____________________ disease (HD) Progressive weakening of muscle proteins resulting in inability to walk Duchenne Muscular dystrophy and eventually death _________________________ Inability to distinguish between the colors red and green _____________________ Colorblindness syndrome Females with only one X chromosome Turner ____________________ resulting in infertility When crossing two individuals that are heterozygous for a completely dominant trait, what phenotypic pattern would you expect to see in the offspring? 3 dominant:1 recessive If you see a 2:1 ratio instead, what should you suspect. The trait is a dominant lethal trait. After flipping 2 heads from two coin tosses, what is the probability of tossing the coin and obtaining heads? ½; past events don’t influence the next flip Compare and contrast polyploidy and aneuploidy. ALIKE: Both describe cells with changes in chromosome number Both can result from nondisjunction DIFFERENT: Polyploidy-cell with extra whole sets of chromosomes (3N, 4N, etc.) Aneuploidy- cell with missing or extra chromosomes (Ex: 2n-1, 2n+1, 2n + 2) Caleb has a double row of eyelashes, which he inherited from his mother as a dominant trait. His maternal grandfather is the only other relative to have the trait. Veronica, a woman with normal eyelashes, falls madly in love with Caleb, and they marry. Their first child, Polly, has normal eyelashes. Now Veronica is pregnant again and hopes they will have a child who has double eyelashes. a. What chance does a child of Veronica and Caleb have of inheriting double eyelashes? b. Draw a pedigree of this family. Caleb’s mom is Ee since her dad is the only other relative to show the dominant trait. She passed her E allele to Caleb so he is Ee too Veronica must be ee since she is normal. So Caleb (Ee) X Veronica (ee) Child #2 has a ½ or 50% of having double eyelashes http://scioto.dublin.k12.oh.us/academics/science/mckenzie/mckweb/APbio/activities/genetics/Practice%20Pedigree%20Problems.pdf A genetic map that is based on the percentage of cross-over events = _________________ Linkage map 1 A map unit = ___% Type of mutation in which a chromosomal fragment is lost resulting in a chromosome with missing genes deletion See a Video What would the blood cell of a person with O+ phenotype look like? What problem can result during pregnancy if a mom is Rh- and her baby is Rh+? After 1st pregnancy mom’s immune system can be sensitized to baby’s cells. In subsequent pregnancies her immune system can attack the embryo. (Erythroblastosis fetalis) http://www.fisterra.com/human/3arte/pintura/temas/enanos/enanos.asp http://www.usmagazine.com/colin_farrell_and_son Individuals with Prader-Willi and Angelman’s syndromes are both missing the same piece of chromosome #15. Explain how it is possible for the same mutation to produce 2 different phenotypes. Due to genetic imprinting. In Angelman’s syndrome the missing piece is inherited from the mother. In Prader-Willi syndrome it is inherited from the father.