key.DOC - LS4 Lec2 Final Exam 3/19/04 Key Last name 1 _ 2 _...

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LS4 Lec2 Final Exam 3/19/04 Key ______________________ ___________________ Last name First SID Disc.Section 1 ______________ 6 ______________ 11 ______________ 16 _____________ 2 ______________ 7 ______________ 12 _____________ 17 _____________ 3 ______________ 8 ______________ 13 _____________ 18 _____________ 4 ______________ 9 ______________ 14 _____________ 19 _____________ 5 ______________ 10 ______________ 15 ______________ 20 ______________ Discussion __________________ Midterm 1 __________________ Midterm 2 __________________ Final __________________ Grand Total __________________ Grade __________________ Show All Your Work for Full Credit.
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1. (21 pts) SHORT ANSWERS, PLEASE. a. What is a DNA polymorphism? What makes it a polymorphism? An alteration in DNA sequence that can be seen to segregate from the normal form in heredity. The term polymorphism is restricted to relatively frequent changes, >1% of copies. b. What is a RFLP? It is a probe that hybridizes to a unique region of DNA to show the size of a fragment(s) produced by restriction digestion, with the presence or absence of restriction sites producing fragments of different size. c. What is a ORF? What is its relation to a gene? ORF is open reading frame; it predicts a protein coding region in DNA from the sequence. In principle, all genes are ORFs and all ORFs are genes. d. How many genes are estimated to be in the human haploid genome? 30,000 e. Once a gene is found through mutations, why is having the nucleotide sequence useful in recognizing the normal gene function? From the nucleotide sequence we can predict the amino acid sequence of the protein product from that we can recognize protein domains that are associated with protein functions. f. What role do haplotypes play in finding a gene suspected of causing a disorder, as for example, Huntington disease? Haplotypes can be examined for linkage disequilibrium with the disease. A haplotype that is in LD with the disease marks a short region of DNA at a very near the gene. g. Chromosome walking, finding DNA changes in patients, linkage, and candidate gene identification are all major steps in finding a disease causing gene. Place them in order, from first to last. Linkage chromosome walking candidate gene identification finding DNA changes in patients.
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2. (6 pts) Finish filling out this table for number of 2 allele autosomal markers in a human population in HWE. frequency a AA frequency Aa frequency aa frequency 1/10 81/100 18/100 1/100 1/5 16/25 8/25 1/25 1/3 4/9 4/9 1/9 3. (8 pts) In this family the rare autosomal recessive albinism trait has appeared. a. What is the chance IV-1 will have albinism? i) 1/48 ii) 1/24 iii) 1/12 iv) 1/6 v) 1/3 b. What is the chance IV-1 will be a carrier for albinism? i) 1/48 ii) 1/24 iii) 1/12 iv) 1/6 v) 1/3
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4. (12 pts) By following the amount of DNA in a cell, you can determine the kind and stage of the division process at different times for that cell. Below is the record for one cell. Chose the cytological figure for each time point. a. 1 2 34 5 b. 1 2 3 45 c. 1 2 345 d. Name the division and phase for this time point. Meiotic anaphase II
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5. (5 pts) A color blind man married to a woman with normal color vision had a color blind daughter with Turner syndrome (45, X). What is the most likely explanation?
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This note was uploaded on 07/08/2009 for the course LIFESCI ls 4 taught by Professor Merriam during the Winter '08 term at UCLA.

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key.DOC - LS4 Lec2 Final Exam 3/19/04 Key Last name 1 _ 2 _...

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