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05exam1 - Genome 371 Spring 2005 MIDTERM EXAM 1 100 points...

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Genome 371 Spring, 2005 NAME: _ 1 Precursor (tyrosine) Intermediate Black Yellow/Orange C gene (tyrosinase) B A (agouti) I O T (Tabby gene) MIDTERM EXAM 1 100 points total (5 questions) 10 pages PLEASE PUT YOUR NAME ON ALL PAGES, SINCE THEY WILL BE SEPARATED DURING GRADING. RAISE YOUR HAND IF A QUESTION IS UNCLEAR P df 1 2 3 4 5 6 0.995 0.000 0.010 0.072 0.207 0.412 0.676 0.975 0.000 0.051 0.216 0.484 0.831 1.237 0.900 0.016 0.211 0.584 1.064 1.610 2.204 0.500 0.455 1.386 2.366 3.357 4.351 5.348 0.100 2.706 4.605 6.251 7.779 9.236 10.645 0.050 3.841 5.991 7.815 9.488 11.070 12.592 0.025 5.024 7.378 9.348 11.143 12.832 14.449 0.010 6.635 9.210 11.345 13.277 15.086 16.912 0.005 7.879 10.597 12.838 14.860 16.750 18.548 χ 2 table Interference = 1-COC (O-E) 2 E χ 2 = Σ COC= Observed DCO Expected DCO
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Genome 371 Spring, 2005 NAME: _ 2 Problem 1. (20 points) The pedigree below shows the segregation pattern of a rare dominant form of early onset Alzheimer’s disease in which individuals with this disorder begin to display symptoms in the fourth decade of life. A variable number tandem repeat (VNTR) marker has been found that is linked to the gene responsible for this early-onset form of Alzheimer’s disease by 10cM. Oligonucleotide primers flanking the VNTR were used in a polymerase chain reaction (PCR) to amplify this polymorphic marker from each of the individuals in the pedigree. The PCR products were subjected to electrophoresis and the results of this analysis are shown below each of these individuals in the pedigree (the result shown below each individual is the result for that particular individual). (a). Circle the segregation pattern that best characterizes this early onset form of Alzheimer’s disease and briefly describe the pedigree features that allow you to draw this conclusion ( no credit without a clear justification ). Autosomal Sex-linked Not possible to determine (b). Show the possible gametes that could be produced by individual II-4. Use a D to designate the dominant disease causing allele and a d to designate the recessive allele of this gene. Use a 1 or a 2 to designate the VNTR allele. Parental Gametes Recombinant Gametes Continue onto the next page ---- Æ (c). Individual III-1 is 20 years old and is currently presymptomatic. What is the probability that this individual will develop early-onset Alzheimer’s disease? (show your work). I II III 1 2 3 4 5 2 1 1 I-2 II-1 II-2 II-3 I-1 II-5 III-1 II-4 ? VNTR allele allele 1 allele 2
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Genome 371 Spring, 2005 NAME: _ 3 Problem 2. (20 points) Your female calico cat produces a litter of kittens. You have identified 2 male cats in the neighborhood that are prime suspects of being the father. To test which of these male cats is the father of the kittens you decide to perform allele-specific oligonucleotide hybridization using DNA samples obtained from the mother, one of the female kittens and both of the candidate fathers. Results of this analysis are shown below for the 10 DNA markers (A-J) analyzed (darkened squares indicate hybridization). allele 1 allele 2 A B C D E F G H I J allele 1 allele 2 A B C D E F G H I J allele 1 allele 2 A B C D E F G H I J A B C D E F G H I J allele 1 allele 2 Probe DNA from mother Probe DNA from female kitten Probe DNA from male #1 Probe DNA from male #2 (a). From the results of this analysis, can you exclude either of the fathers?
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