2810F10Q12ANS - _ _ Your name Your TA's name BioGD2810...

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______________________________ __ _______________________________ Your name Your TA's name BioGD2810 Genetics Fall 2010 Quiz #12 Canavan disease is a recessive, autosomal, severe neurodegenerative syndrome usually causing death by the age of 18 months. The frequency of Canavan disease is particularly high in Jewish populations. In an effort to map the gene causing this condition, researchers looked at 10 SNPs (1-10) spaced at roughly 100 kb distances along chromosome 17 in 5 affected Jewish individuals and 5 unaffected Jewish individuals. In Table 1 on the tear-out sheet, each row depicts a single haplotype. G C A and T represent the actual nucleotide(s) at the indicated SNP location. (a) (4 points) With which SNP alleles do any disease-causing mutations appear to be in strong linkage disequilibrium? Indicate the names of the loci and the identity of the alleles in disequilibrium. (Although this data set is too small to achieve statistical significance, assume that the haplotypes observed are in fact representative.) SNP 3(G) SNP4(T) SNP5(T) SNP6(T) SNP7(C) Note: this answer is the same as in the answer book, although the data was slightly altered to make this answer (and those to subsequent parts) more clear-cut. (b) (2 points) Are any of the numbered SNPs within the region of high linkage disequilibrium excluded as an actual disease-causing mutation? Write the number(s) of any such excluded SNPs; if none are excluded, write "None." None (c) (2 points) Are any of the numbered SNPs within the region of high linkage disequilibrium clearly identified as an actual disease-causing mutation? Write the number(s) of any such disease-causing SNPs; if none are clearly identified, write "None." None Note: parts (b) and (c) illustrate the point that allele association studies of this kind cannot identify the actual disease-causing mutation; all they can do is to locate a region in which
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This note was uploaded on 12/20/2011 for the course BIOGD 6057 taught by Professor Fox during the Spring '09 term at Cornell University (Engineering School).

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2810F10Q12ANS - _ _ Your name Your TA's name BioGD2810...

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