ANSWERS TO REVIEW QUESTIONS 1. a. b. c. d. e. f. g. h. i. j. CHAPTER 5 Lethal alleles eliminate a progeny class that Mendel's laws predict should exist. Multiple alleles create the possibility of more than two phenotypic classes. Incomplete dominance introduces a third phenotype for a gene with two alleles. Codominance introduces a third phenotype for a gene with two alleles. Epistasis eliminates a progeny class when a gene masks another's expression. Incomplete penetrance produces a phenotype that does not reveal the genotype. Variable expressivity can make the same genotype appear to different degrees. Pleiotropy can make the same genotype appear as more than one phenotype because subsets of effects are expressed. A phenocopy mimics inheritance, but is an environmental effect. Conditions with the same symptoms but caused by different genes will not recur with the frequency that they would if there was only one causative gene. 2. Dominant and recessive alleles are of the same gene. Epistasis is an interaction of alleles of different genes. 3. It can skip generations in terms of phenotype. 4. The I A allele is codominant with the I B allele; both are completely dominant to i. 5. Incomplete penetrance in the child 6. The porphyrias are variably expressive because symptoms vary in occurrence and severity among individuals. They are pleiotropic because they have more than one symptom. They are genetically heterogeneic because they have mutations in different genes in the porphyrinheme pathway. 7. The epistatic gene modifies another gene’s phenotypic expression. 8. Smoking 9. No introns, no crossing over and not associated with histones. 10. Maternal inheritance describes transmission of mitochondrial genes, which sperm do not usually contribute to oocytes and, therefore, these traits are always passed from mothers only. Linked genes are transmitted on the same chromosome. Mendel's second law applies to genes transmitted on different chromosomes. 11. Only females transmit maternally inherited traits. All of a woman's children inherit a mitochondrial trait, but a male does not pass the trait to his children. 12. 24 linkage groups, 22 pairs of autosomes, and the X and the Y 13. Markers may be variable restriction sites, variable short repeated sequences, or single nucleotide polymorphisms (SNPs). 14. Linkage: inherited together as on the same chromosome. Marker: a gene or DNA sequence with a known location that can be used to localize a gene of interest with an unknown location. 1 ANSWERS TO APPLIED QUESTIONS 1. a. D b. C. c. A d. H e. G f. C g. H h. F i. G 2. Haplotypes can reveal if people without symptoms have the haplotype associated with the condition. These people are non-penetrant. If the genotype is lethal, individuals with the haplotype containing the lethal allele should not exist. 3. a. 1/2 b. 1/2 c. 0 d. 0 4. This alters the phenotype 5. It would be Mendelian because the gene that causes the condition when mutated is in the nucleus. 6. 0.45 x .05 = .0225 7. The sperm are all of genotype hh se se. The oocytes are of genotype Hh Se se, with the alleles in coupling: H Se h se All sperm are h se oocytes: H Se 49.5% h se 49.5h % H se 0.5% Chance offspring like father = 1 (h se) x 49.5 (h se) = 49.5 h Se 0.5% 8. b and d 9. Calculate the percentage of individuals with the allele who have hemochromatosis 10. a. Male: RrHhTt Female: rrhhtt b. Parental progeny classes: Round eyeballs, hairy tail, 9 toes; square eyeballs, smooth tail, 11 toes. Recombinant progeny classes: Round eyeballs, hairy tail, 11 toes; square eyeballs, smooth tail, 9 toes; round eyeballs, smooth tail, 11 toes; square eyeballs, hairy tail, 9 toes c. Crossover frequency between eyeball shape (R ) and toe number (T ): Round eyeballs, 11 toes = 6+4; square eyeballs, 9 toes = 6+4; crossover frequency = 20/100 = 20% ANSWERS TO WEB ACTIVITIES 1. Leber congenital amaurosis affects the retinal pigment epithelium’s ability to use vitamin A. Stargardt disease is juvenile macular degeneration, in which photoreceptors in the center of the retina die. Answers vary based on disease selected. Complete achromatopsia causes no color vision (cones do not function). 2. Answers vary based on disease selected. Examples are Ehlers-Danlos syndrome, FG syndrome, Kabuki syndrome, and VATER association. 3. Kearn-Sayre syndrome produces heart failure, infections, anemia, hearing loss, pancreatic failure, and visual loss. 4. Linked genes on chromosome 3: genes for sodium channel, voltage-gated, type V, alpha and contactin 3 and chondroitin sulfate proteoglycan 5. 2 5. Answers vary based on disease selected. Paget disease of bone (PDB) can be caused by different genes. 6. a. drugs, alcohol, infections, dietary changes, hormonal changes b. alcohol, estrogen c. drugs d. drugs e. light ANSWERS TO FORENSICS FOCUS 1. Mitochondrial DNA. Reference DNA from McGoon or family donors who would share the same mtDNA. ANSWERS TO CASE STUDIES AND RESEARCH RESULTS 1. a. i, ii, iii, iv b. People with one copy have abnormalities so mild that they are not noticeable without a test. People with two copies can be severely affected. c. The parents are heterozygotes, so each of their offspring has a 1 in 4 probability of inheriting two wild type alleles, like Tina. d. Phenotype 2. 0 3