BIO 150 - Exam 1 Answers

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University at Stony Brook Biology 150 Professor Elof Carlson Spring 2000

First Examination: Unit 1

Name:________________________________________________________ first[given name] last[family name] ID or SS number:________________________________________________

Part 1: multiple choice [counts 100 points]

1. What percent of the offspring will be (p) if the parents are Pp x Pp a) 0.00 b) 0.25 c) 0.33 d) 0.50 e) 0.75 How to solve it: Since the parents are each Pp, half their gametes in each instance will be P and half will be p. Set up a Punnett square and you will get a gametic ratio of 0.25PP: 0.50Pp: and 0.25pp. The only genotype among these that will be seen as (p) is the homozygous recessive which is 0.25, the correct answer. If you don't know how to set up a Punnett Square, what are you waiting for? Go to a review session and ask the TA for help. They'll show you how to do this. 2. A client asks a genetic counselor for advice. Her brother died of Hurler syndrome. Both their parents were healthy. What is the probability this client is heterozygous? a) zero b) 0.25 c) 0.50 d) 0.75 e) 0.67 How to solve it: Hurler is autosomal recessive (you have to know these things and make a list of which traits are recessive and which are dominant and which are X-linked). Let us call it h for the allele for Hurler and hh for the genotype that expresses the disease and whose phenotype is thus (h). Both parents are healthy. This tells you, if the kid with the disease is hh that each parent gave a little h. But each parent is healthy and thus each parent is heterozygous or Hh. The cross is thus Hh x Hh for the parents. The client is the sister of the brother who died. She didn't die so she has at least one allele that is H. She can't be hh or she would have died long ago. This means if the parents had a 1HH: 2Hh: 1hh genotypic ratio and we exclude hh because this woman is alive (she's not dead from Hurler syndrome) then she is either the 1:HH or the2Hh. This makes her chances of being heterozygous 2 out of 3 or 0.67. If this makes no sense to you, go to a TA and go over this. 3. Which one of the following is an X-linked trait

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a) Huntington disease b) Apert syndrome c) Hurler syndrome d) Duchenne muscular dystrophy e) PKU (phenylketonuria) How to solve it: Huntington is autosomal dominant; Apert is autosomal dominant; Hurler is autosomal recessive; PKU is autosomal recessive. The only one there that's X-linked is Duchenne muscular dystrophy. 4. If you produce a gamete by meiosis, what are the chances that that gamete will have the same chromosomes as your mother contributed to you? a) one in nine million b) one in one thousand c) one in 256 d) one in 16 e) one in 4 How to solve it: There are 23 chromosomes from your father's sperm and 23 chromosomes from your mother's egg that are in each of your diploid cells. When you make gametes, you will separate your father's and mother's matching chromosomes. But they line up randomly-imagine laying out 23 pennies and then laying out 23 more on top of those twenty three. The chances you would have 23 heads looking at you is 1/2 x 1/2 x 1/2 x 1/2 .........for all 23 pairs. This is not something that happens very often. In often 1/2 to the 23rd power is about 1 in nine million. Got a math block? Statistics makes your eyeballs turn opaque? See a TA for help. 5. The parents of a child with factor VIII hemophilia attempt to have another pregnancy. Both parents can clot blood normally. If they have a daughter what is the probability that she will have factor VIII hemophilia a) 0.25 b) zero c) 0.50 d) 0.75 e) 0.33 How to solve it: Factor VIII hemophilia is an X-linked trait (it's something you have to memorize). The parents clot normally so the father is HY (he's hemizygous-not homozygous nor heterozygous-- because he has an X with the H and a Y which has neither an H nor an h). In X-linked traits sons get the condition from their mother who is a carrier (i.e., heterozygous) in this case Hh. Thus the cross is HY x Hh. The father will pass an H to his daughter and thus she is automatically not a hemophiliac. She can be heterozygous Hh like her mother or HH and free of the allele. This means her odds of having hemophilia are zero. To have hemophilia she would be hh an impossibility if her father supplies an H. 6. What is the most probable genotype for the parents of a child who later develops Huntington disease? a) HY x Hh b) Hh x Hh c) hY x Hh d) HH x hh e) Hh x hh

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How to solve it: Huntington disease is autosomal dominant. Most individuals with this disorder have one normal parent and one parent with the disorder. In almost all instances the parent with the disorder is heterozygous Hh. The parent without the disease is homozygous hh. Thus the parents are Hh x hh. It is very unlikely to find a homozygous HH person with Huntington disease. That person would have had both parents with Huntington disease. If Huntington disease is about 1 in 50,000 people, the odds of their meeting each other by chance are 1 in 2, 500, 000, 000. Think of it this way. Suppose your name was Abner Nicodemus Quetzlpopkins. You ask the student next to you, what's your name? He says "Abner Nicodemus Quetzlpopkins." How often do you think something that nutty really happens? 7. How many mature sperm are eventually produced by one diploid cell entering meiosis? a) four b) three c) two d) one e) eight How to solve it: one immature primary spermatocyte which is diploid divides to produce two haploid secondary spermatocytes. Each of these then divides to produce four spermatids which are haploid. Each spermatid is converted by cytoplasmic elimination into as mature spermatozoon. Thus four haploid spermatozoa (i.e., mature sperm) are produced from one diploid primary spermatocyte entering meiosis. 8. If the parental genotypes are Aa x Aa what percent of the offspring are heterozygous? a) 0.75 b) 0.67 c) 0.50 d) 0.33 e) 0.25 How to solve it: Each Aa parent produces half the gametes as A and half as a. Set up a Punnett square with that running vertically and horizontally and you will get a genotypic ratio of 1AA: 2Aa: 1aa. Since the Aa are 2/4ths of the total, that is 0.50. 9. A male learns he is red-green color deficient. He marries a woman who has normal vision with no family history of red-green color deficiency. What percent of his sons will have red-green color deficiency allele? a) 25 b) zero c) 50 d) 75 e) 100 How to solve it: Red-green color deficiency is X-linked. The guy is rY (he's hemizygous and expresses the recessive because the Y doesn't carry either R nor r). His wife is RR because she has no history of the condition. The father can only give his sons his Y. Thus his wife supplies the R to each son. The son's cannot get the r from the father. The odds are thus zero. 10. A person who was successfully treated in infancy for bilateral retinoblastoma marries a person who has no history of this condition. What is the probability they will have a child who will NOT have

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retinoblastoma? a) zero b) 0.25 c) 0.50 d) 0.33 e) 0.25 How to solve it: Bilateral retinoblastoma is inherited as an autosomal dominant trait. This person is thus Rr. The person who is the spouse of this individual has no history of it and is thus rr. Since the homozygous normal parent supplies an r to each child, the affected person has a 50-50 chance of passing on one or the other allele. Hence to get an rr the odds are 0.50. You can make a Punnett square with R and r across the top horizontally and just an r in the vertical (since all the gametes of the homozygote will be r) 11. Which of the following is the genotype of a male with sickle cell anemia a) SS the b) Ss c) SY d) ss e) sY How to solve it: A person with sickle cell anemia is homozygous for this autosomal recessive allele (yeah, you have to remember that it is an autosomal recessive condition). Thus ss is the correct answer. SS is homozygous normal blood ; Ss is heterozygous normal blood; SY would make it sex-linked dominant; sY would make it sex-linked recessive. 12. A boy has difficulty digesting food, develops pancreatitis, and has considerable amounts of phlegm developing in the lungs. Which one of the following is the most likely genotype for that child a) CC b) cc c) Cc d) CY e) cY How to solve it: Those are the symptoms of cystic fibrosis, the condition that troubles most of the endodermal derivatives. Mucous plugs up the pancreatic duct, fills the lungs, and prevents the guts from absorbing digested food. It is an autosomal recessive condition and thus the genotype is cc (it is only expressed when homozygous recessive). 13. A child has Apert syndrome. This means the child has a) an inability to metabolize phenylalanine b) a mucopolysaccharide storage disease c) an inability to make polymers of melanin from tyrosine d) a tower skull, protruding eyes, mitten-like hands and feet, and mental retardation e) hereditary tumors of the retina How to solve it: Apert syndrome is an autosomal dominant condition. You had to memorize its symptoms, but gee whiz: eyes like a bull frog, a tower-shaped skull, hands and feet shaped like mittens. You mean something so unusual wouldn't stick in your head? Maybe you cut class that day or fell

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asleep. 14. A boy dies of Duchenne muscular dystrophy. The genotypes of his parents are most likely to be: a) Dd x Dd b) DD x dd c) Dd x dd d) dY x Dd e) DY x Dd How to solve it: Here's that X-linked condition again. This disease usually kills boys and young teens. Boys and young teens even when healthy don't usually become fathers so the parents are no doubt both healthy. The father gives the Y to this son, so the mother must be the carrier (heterozygote) Dd and the father is DY. The boy who died was dY. 15. How does one represent the human karyotype for a normal male: a) 46, XX b) 46, XY c) 44, XX d) 44, XY e) 47, XXY How to solve it: For human karyotypes the total number of chromosomes present in a cell are given followed by a comma after which comes the sex chromosome composition of that cell. A normal male is thus 46 for the total and XY for the sex chromosome content or 46,XY. 46,XX is a normal female and the two with 44 wouldn't even be born with two missing autosomes. The 47,XXY is Klinefelter syndrome, definitely not a normal male. 16. The healthy parents of a child with Hurler syndrome would best be represented by a) Hh x Hh b) HH x HH c) HY x Hh d) hh x hh e) hY x Hh How to solve it: Hurler syndrome is autosomal recessive and it is lethal. Thus the parents have to both be carriers or heterozygous. Thus Hh x Hh . HH x HH is just two normal people with no history of the disease. HY would make this some sort of X-linked trait which it isn't. hh x hh would be two Hurlers mating an impossibility because they'd be dead before they lived long enough to reproduce. The hY is another error of thinking the trait to be X-linked. It's not. It's autosomal recessive. 17. What ratio did Mendel obtain when he crossed dihybrid peas for pea color and pea texture a) 3 (GR): 1 (gr) b) 1 GR: 2 Gr: 2 gR: 1 gr c) 1GR: 2Gr: 1 gr d) 9 (GR) : 3 (Gr): 3 (gR): 1 (gr) e) 1 (GR): 3 (Gr): 3 (gR): 1(gr) How to solve it: The classic 9:3:3:1 ratio comes from the cross Gg Rr x Gg Rr. It's a messy Punnett Square and you'll be doing a zillion of them in genetics classes. The other stuff is a bunch of garbage I

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made up to fill the slots. None of those screwy ratios exist for any dihybrid condition. 18. A cell completes mitosis. It began with a chromosome number of 46. As a consequence of this mitotic division one obtains: a) two cells each with 23 chromosomes b) two cells each with 46 chromosomes c) four cells each with 46 chromosomes d) four cells each with 23 chromosomes e) one cell with 23 chromosomes How to solve it: Mitosis preserves the chromosome number so one cell with 46 chromosomes ends up producing two cells each with 46 chromosomes. Meiosis gives you 23 chromosomes. 19. Which of the following represents the phenotype of a child with albinism a) (A) b) aa c) (a) d) AA e) Aa How to solve it: A phenotype has parentheses around it. Albinism is an autosomal recessive trait and thus the genotype is aa and the phenotype is (a). You want the phenotype, not the genotype. 20. The parents of a boy with red-green color deficiency (represented by the allele r) are both capable of seeing color. The genotype of the father of this boy is: a) rY b) Rr c) rr d) RY e) RR How to solve it: Red-green color deficiency is X-linked recessive. Since the parents are normal the cross is RY for the father (hemizygous normal vision) and Rr (heterozygous normal vision. 21. The healthy parents of a baby who has phenylketonuria hope to try again to have a healthy child. What are the odds that the child will not have this disease? a) 0.75 b) 0.67 c) 0.50 d) 0.33 e) 0.25 How to solve it: Since the condition is autosomal recessive and the parents are healthy, they are both heterozygous. Thus Pp x Pp is the cross. Set up a Punnett Square and you'll get a genotypic ratio of 1PP: 3Pp: 1pp or phenotypic ratio of 3(P) to 1(p). The odds of another child being normal (not having the disease) is 75% [25% PP and 50% Pp among the total]. 22. Which of the following is an autosomal recessive trait a) retinoblastoma

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b) Duchenne muscular dystrophy c) Lesch-Nyhan syndrome d) Marfan syndrome e) cystic fibrosis How to solve it: Brute memory again-retinoblastoma is autosomal dominant; Duchenne muscular dystrophy is X-linked recessive; Lesch-Nyhan is X-linked recessive; Marfan is autosomal dominant. Only cystic fibrosis is autosomal recessive. 23. Which of the following represents a male with Apert syndrome in a human pedigree a) a filled-in circle b) a circle not filled in c) a diamond with a 1 in it d) a filled-in square e) a square not filled in How to solve it: In pedigrees squares are male and circles are females. Filled in means having the condition (Apert in this case). Thus a filled in square. 24. Which one of the following represents the child of two healthy parents for the genetic counselor working out the heredity of the disorder? a) P1 b) F2 c) F1 d) P2 e) P0 How to solve it: P1 is the parental generation; F2 are the grandkids; P2 is rarely used in pedigrees I threw it in to muddle you; P0 is also rarely used and also a muddling attempt. The F1 is the generation of children produced by the parents. 25. The healthy parents of a child with Tay-Sachs syndrome have elected to try again. If amniocentesis is performed on the pregnant woman, what are her chances of having an embryo that is heterozygous like herself? a) 0.25 b) 0.50 c) 0.75 d) 0.33 e) 0.67 How to solve it: Tay-Sachs is a lethal autosomal recessive condition and thus the parents are both heterozygous or Tt x Tt. From the amniocentesis we learn that any of the four possibilities may be present. That is the genotypic ratio is 1 TT: 2Tt: 1 tt. The chances amniocentesis will detect a heterozygous is 2/4ths or 0.50.

Part 2: Written [counts 100 points]

A: Definitions [counts 40 points] Please define or characterize each of the following to convey the biological usage of this term (e.g., Chromosome: the thread-like structure in the nucleus that carries the genes and is

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made of nucleic acid) a) gamete: the haploid [+2] reproductive [+2] cell b) heterozygote: a hybrid [+4] or a genotype Aa [+4] c) F1: the offspring of a parental cross [+4] d) reduction division: a meiotic division [+2] that converts the cell from diploid to haploid [+2] e) pseudoautosomal region: The region of an X or Y that shares common genes [+4] f) phenotype: the appearance of a trait [+4] or the symbolic representation (a) where a is what is seen[+4] g) independent assortment: Mendel's second law [+4] or the distribution of a dihybrid into a 9:3:3:1 ratio [+4] h) allele: a mutant or normal form of a gene [+4] or the symbol a (recessive) or A (dominant) to represent a state of a gene i) genotypic ratio: the 1 AA: 2Aa: 1aa distribution from a cross of Aa x Aa [+4] or the use of genotypes to represent the offspring from a parental cross [+4] j) autosomal recessive trait: a gene on a chromosome other than X or Y [+2] that is represented by a lower case letter, such as a [+2]. B. Essay [counts 60 points] In a genetic counseling session you are the genetic counselor. You see three couples that day. First counseling session Two healthy parents have two children, the first a healthy daughter and the second a son with a genetic disorder, Duchenne muscular dystrophy. They have been counseled about the medical aspects of their son's condition. They are considering having another pregnancy with an option to use prenatal diagnosis by amniocentesis. As the parents raise questions you try to answer them. Here are the questions the parents ask Q1: You say my son has Duchenne muscular dystrophy. How is it inherited? Answer: It is X-linked recessive [+4 ] Q2. What are the chances if we get pregnant again, that we will have another son with this condition? Answer: If it is a son, the odds are 50% a male has it [+4 ] or the odds are 25% that our next child will be a son with it [+4 ] Note: cannot say 25% for next child (unqualified) because that affected child must be a son (daughters cannot show it). Q3: What are our genotypes? Could you indicate that in the symbolism geneticists use? Answer: Father is DY [+2 ]; mother is Dd [+2 ] Q4: What is the probability that our daughter is a carrier of the allele for Duchenne muscular dystrophy? Answer: She has a fifty percent chance of being a carrier [+4].

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Q5: If amniocentesis reveals we are expecting a daughter for our next child, is there a chance she will have Duchenne muscular dystrophy? Answer; No, she will not have the disease (Duchenne muscular dystrophy) [+4] Second counseling session The father tells you that he has lived his life with Marfan syndrome. His wife is normal. They have a normal daughter and a son with Marfan syndrome. They are thinking of another pregnancy and seek advice by asking the following questions. Q1: How is Marfan syndrome inherited? Answer: It is autosomal dominant [+4] Q2: What is the probability that if we have another child, that child will have Marfan syndrome? Answer: fifty percent [+4] Q3. What is the probability that our daughter is heterozygous for this condition? Answer: zero [+4] Q4. If we have prenatal diagnosis could you explain to us our likelihood of having a healthy child? Answer: It is 50 percent [+4] or you, the father have Marfan syndrome and you are Mm. Your wife does not have Marfan syndrome and thus is mm. Your chances of having an Mm child is thus fifty percent [+4]. Q5. What about our son with Marfan, what are his chances of passing this on later in life? Answer: fifty percent [+4] Third counseling session Both parents are healthy. They have a healthy daughter, a son who has cystic fibrosis, and they are thinking of having another pregnancy. They ask you a series of questions and you try to provide answers and the reasons for them. Q1: What are our chances of having a healthy child? Answer: 75 percent [+4] Q2: Neither of us has any relatives who have this condition. How did this happen to us? Answer: you are both heterozygous [+2] and that gene on both sides of your family has been passed down for a long time [+2] heterozygote to heterozygote. Q3. What are the chances that our daughter can pass this on? Answer: She will have a 67% chance of having that gene [+2 ] and a fifty percent chance if the gene is present of its going to a child [+2 ] . Note can also get +2 for saying: It is unlikely that her husband will have the gene for cystic fibrosis so your grandchildren are not much at risk . TAs: If anyone does add this third bit of inference give them the extra two bonus points Q4: If we have prenatal diagnosis by amniocentesis and the embryo will not have the disease, cystic fibrosis, what are the chances that our child will be heterozygous? Answer: sixty seven percent [+4] Q5: If our son reaches reproductive maturity what are his chances of passing this on? Answer: zero [+4] or He is sterile [+2] so unless he has some unusual luck with in vitro fertilization he

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can't pass it on. If in vitro fertilization succeeds by locating sperm in his testes or epididymis, he will have a 100% chance of passing the gene on [+2] but his partner will probably be homozygous normal so his child will be normal and heterozygous [+2 bonus points if any one gets this last bit of information] . Back to Main Page Last modified February 14, 2000 BIO 150 - Exam 1 Answers / Michael S. Rosenberg

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