Practice Questions – Nondisjunction, Complementation, DNA 1) A mother is a carrier for an X-linked recessive disease. The father is normal. The mother gives birth to an XXY Klinefelter son. Her son happens to be afflicted with the disease. Which of the following errors most likely occurred? (a) Write down the genotypes of the mother and father: Mother: ________________ Father: _________________ (b) Write down the genotype of the son: Son: ______________ (c) Write down the gametes produced by the mother and father that led to the Klinefelter son: Mother: ______________ Father: _______________ (d) This nondisjunction event occurred during (select TWO of the following): A. Mitosis B. Meiosis I C. Meiosis II D. Spermatogenesis (sperm formation) E. Oogenesis (egg formation) (e) When a sperm that is aneuploid from a nondisjunction event in meiosis I fertilizes a euploid (normal) egg, which of the following could result: (Circle all that apply) A. Turner (X0) female B. XYY male C. Trisomy X (XXX) female D. Klinefelter (XXY) male (f) When a euploid (normal) sperm fertilizes an egg that is aneuploid from a nondisjunction event in meiosis I, the zygote that results could be which of the following: (Circle all that apply) A. Turner (X0) female B. XYY male C. Trisomy X (XXX) female D. Klinefelter (XXY) male 2) In a female mammalian somatic cell, we know that only one X chromosome is active at any given time. The other X chromosome is inactivated. (a) In placental mammals such as humans and mice, the choice of which X chromosome is inactivated for an individual cell is random. In marsupials (a classification of mammals that includes kangaroos and opossums), the X chromosome that is inactivated is not random. Examine the following pedigree for an X-linked recessive trait in kangaroos. Determine whether it is the paternal or the maternal X chromosome that is inactivated in marsupials. Explain and justify your answer. _____________________________________________________________________________________ _____________________________________________________________________________________ _____________________________________________________________________________________ (b) The inactivated X chromosome(s) in females are called ______________. (c) X chromosome inactivation is an essential process. This is evidenced by the fact that mice that possess two active X chromosomes in their cells usually die during embryonic development. Propose an explanation for why two active X chromosomes can be lethal. _____________________________________________________________________________________ _____________________________________________________________________________________ 3) You have discovered a new Drosophila gene, which you name DWW. In Drosophila with a wild-type version of this gene, the flies are hairy. You have created knockout flies in which both alleles of the DWW gene are deleted. Further, you have identified a mutant allele of this gene (dww), and you seek to characterize this mutation by performing the following crosses: P: F1: F2: P: F1: F2: Pure-breeding wild-type flies x Knockout flies ↓ 100% hairy flies ↓ 305 hairy flies and 107 flies with little or no hair Pure-breeding wild-type flies x Pure-breeding mutant flies ↓ 100% hairy flies ↓ 274 hairy flies and 70 semi-hairy flies F1 flies (from second cross) x F1 flies (from first cross) ↓ 296 hairy flies and 99 flies with little or no hair (a) True / False: The mutant allele (dww) is a dominant allele. _______________ (b) Which of the following best describes the mutant allele: A. Hypermorphic B. Hypomorphic C. Amorphic D. Neomorphic You have identified five other mutations that affect hairiness. You name the mutations mut1, mut2, mut3, mut4, and mut5. You want to discover whether any of these mutations and the dww mutation are allelic. So you perform crosses as follows and examine the F1 which are either all semi-hairy or all wildtype (hairy) or all super-hairy. dww/dww mut1/mut1 mut2/mut2 mut3/mut3 mut4/mut4 mut5/mut5 wild-type dww/dww semi-hairy mut1/mut1 semi-hairy semi-hairy mut2/mut2 hairy hairy semi-hairy mut3/mut3 semi-hairy semi-hairy hairy semi-hairy mut4/mut4 hairy hairy semi-hairy hairy semi-hairy mut5/mut5 super-hairy super-hairy super-hairy super-hairy super-hairy super-hairy wild-type hairy hairy hairy hairy hairy super-hairy hairy (c) Disregarding mut5/mut5, how many complementation groups are there? _______ (d) You cannot determine whether mut5 is allelic to mut4 from the test above. Describe the cross you would need to perform to determine whether mut5 and mut4 are allelic and state the expected outcome of the cross if mut5 and mut4 are indeed allelic. _____________________________________________________________________________________ _____________________________________________________________________________________ _____________________________________________________________________________________ _____________________________________________________________________________________ (e) True / False: dww and mut2 are allelic. _______ 4) (a) The nitrogenous base on the right (with the arrow pointing towards it) is ____________________ (b) If a DNA molecule is 30% cytosine, what is the percentage of adenine in the DNA molecule? ______ (c) Which of the sugar molecules above is deoxyribose (the sugar found in DNA)? _________ (d) DNA polymerase can NOT add new nucleotides to a nucleotide that contains which sugar(s)? (write down all that apply): _________ Examine the following diagram, representing DNA replication. (e) i. Which letter(s) represent the current site of action of DNA polymerase III? (choose all that apply): _____________ ii. Which letter(s) represent the current site of action of DNA ligase? (choose all that apply): _____________ iii. Enzyme B is _____________ and enzyme C is _____________ iv. In the diagram above, circle the location of the most recently added primer. (f) A mutant E. coli strain exhibits the following abnormal phenotype: DNA is unwound to form a replication fork but no nucleotides are added to synthesize a new DNA strand. Give the name of the enzyme that this mutation affects: ________________________ (g) A mutant E. coli strain exhibits the following abnormal phenotype: RNA is never removed from the newly synthesized DNA strands during DNA replication. Give the name of the enzyme that this mutation affects: ________________________ (h) A mutation has inactivated the 3' → 5' exonuclease activity of DNA polymerase III. What will result? _____________________________________________________________________________________ _____________________________________________________________________________________ 5) Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder, which results in muscle degeneration due to muscle tissue lacking an important structural protein. Consider a healthy male and a female carrier for DMD, who both have blood types AB. What is the probability of their having a healthy child with type B blood? _________ Hint: Remember blood types: Phenotype: Genotype(s): IAIA or IAi Type A blood IBIB or IBi Type B blood IAIB Type AB blood ii Type O blood 6) Alien dogs can have black fur or white fur, have long ears or short ears, and have red eyes or yellow eyes. The genes for fur color, ear length, and eye color are all located on the X chromosome. Black fur, long ears, and red eyes are dominant. We cross a pure-breeding black-fur, long-eared, red-eyed female alien dog with a white-fur, shorteared, yellow-eyed male alien dog. We then take a female F1 offspring and cross it with its father. The offspring of this cross are listed below: black fur, long ears, red eyes white fur, short ears, yellow eyes black fur, short ears, yellow eyes white fur, long ears, red eyes black fur, short ears, red eyes white fur, long ears, yellow eyes black fur, long ears, yellow eyes white fur, short ears, red eyes 19 21 18 22 7 8 8 7 (a) Which genes (if any) are linked and what is the distance (in cM) between the linked genes? _____________________________________________________________________________________ _____________________________________________________________________________________ _____________________________________________________________________________________ (b) Which genes (if any) assort independently? _______________________________________________