E). Children regress; become vegetative, and 5). Autosomal dominant; shows anticipation.

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1 published BIO212 MIDTERM #2, SECTION.11/1/04. ALL ANSWERS MUST GO ON THE ANSWER SHEET; YOU ARE LIMITED TO THE SPACE PROVIDED FOR EACH ANSWER. YOU MAY USE THE BACKS OF THE PAGES FOR SCRAP/CALCULATIONS. You have [4 ] Match each disease listed on the answer sheet with its description, and its genetics. For each disease, write the letter corresponding to the best description, and the number corresponding to the appropriate inheritance. Each may only be used once. Answer any 4; you may skip any one. DESCRIPTION GENETICS A). Dwarfism. 1). Autosomal dominant, but only about 5% of cases are genetic. B). Dementia in late life. Beta-amyloid protein 2). Confined to wheelchair as children; often buildup found in brain. fatal before adulthood. C) Blackening of urine upon standing in air. 3). Autosomal dominant; many are new mutations. D). Dementia; begins as jerky dance-like 4). Autosomal recessive motions E). Children regress; become vegetative, and 5). Autosomal dominant; shows anticipation. die. F). High risk for heart attack and stroke. 6). Trisomy 21 G). Nearly normal; often some breast and/or 7). Incomplete dominance. hip development. H). X linked recessive 8). XXY I). X linked dominant 9). XO 2. [2 ] Fill in the names on your answer sheet for each of the labels shown: 3. [1 ] According to The Gay Gene Revisited, what kind of inheritance does Sykes believe that homosexuality follows? 4. [2 ] What are SNP s, and what do we use them for?

2 5. [2 ] What is the effect or end result of unequal crossing over? Name: Page 2

3 6. [6 ] In the pedigree below: Within each generation, the people are numbered from left to right. So for instance, the last symbol on line III would be referred to as person III-8. A. What type of inheritance is most likely the cause of this condition? B. Indicate by number (such as IV-2) all people you know to be carriers. C. What s the chance that IV-11 is a carrier? D. If IV-10 marries IV-1, what s the chance their first child will have the disorder? 7. [3 ] A. How many genetically distinct gametes would a person of genotype AaBBccDdEeFf create [be careful with your math!!]? B. If two people of that same genotype married, what would be the chance that their first child would be phenotype ABcDEF? 8. [2 ] Cure or quest for perfection discusses a 17 th century short story called The Birthmark. In a sentence or two, summarize that short story. You needn t interpret the story; just tell me what it s about. 9. [4 ] In one sentence each, tell me what each of the following experiments demonstrated [they re in chronological order]. You needn t describe the experiment; just what the conclusion was for each: A. Griffith B. Avery C. Hershey-Chase D. Meselson-Stahl 10. [3 ] Based upon your sex, tell me how YOUR IGF2 genes [insulin-like growth factor gene; this growth factor acts on the placenta] genes are imprinted [that is, what kind of imprint will each of your alleles carry], and how the IGF2 genes of your gametes are imprinted. 11. [4 ] Define: B. Genetic anticipation D. The Haylflick Limit Leptin Genetic heterogeneity Histone/Nucleosome 12. [2 ] You re studying a pair of identical twins who have an unusual skin disorder. Each twin has patches of normal skin, and patches of skin that completely lack hair or hair follicles. Yet the pattern of patches is different between the two twins. What s the most likely explanation? [1 ] For the most part, heterozygotes of sickle cell are perfectly normal. However, if they go to environments with low oxygen, such as high altitudes, they can show some effects of the disease. What do we call this phenomenon? 15. [1 ] When we performed PCR, how is it that only the ONE gene [with 1 or 2 alleles] we were interested showed up on the gel? 14. [1 ] A mother of blood type AB gives birth to a baby of type O. How can genetics explain this? Name: Page 3

4 15. [2 ] What question was Sykes trying to answer about Neanderthal man, and what was the answer? Name: Page 4

5 16. [2 ] You re performing a cross in mice, examining two loci, A and B. The males you will be using are the F1 offspring of two purebred mouse strains, one of the purebreds showing phenotype AB and the other ab. The females for your cross show both recessive traits. The mouse textbook claims that these loci are 6 map units apart. Given 230 offspring, how many would you have expected to be in each class of offspring? UP TO 3 POINTS EXTRA CREDIT [this IS A CHALLENGING QUESTION, I SUGGEST YOU LEAVE IT FOR LAST]: You do the cross described above using a number of males and females, and find the following offspring: 113 ab 100 AB 10Ab 7 ab B. What is the P value for your experiment (you can give a range surrounding your P value). C. Are your results consistent with the idea that these loci are 6 map units apart? You may need the following: 2 2 ( O E) E P values: Degrees of freedom Name: Page 5

6 MIDTERM EXAM #2: section A: 11/1/04 NAME: 1. Achondroplasia Alcaptonuria Familial Hypercholesterolemia Klinefelter s HD Deuchene Muscular Dystrophy Alzheimer s Tay Sachs

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