BI379_F09_Exercise_5

BI379_F09_Exercise_5 - status? 3. The researchers...

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BI379 F09 Assignment 5 Due Thursday, Oct 29 I. One of the classic examples of relating SNPs within a gene to a disease involves SNPs that define alleles of the apolipoprotein E (APOE) gene. Depending upon the alleles that one has, the likelihood of developing late-onset Alzheimer’s disease varies. A relatively recent paper in Human Molecular Genetics advances this work. Read the paper and answer the following questions. Belbin, O., et al., 2007. Regulatory region single nucleotide polymorphisms of the apolipoprotein E gene and the rate of cognitive decline in Alzheimer's disease. Hum Mol Genet. 16, 2199-208. 1. List the three classical APOE alleles in order of their ability to confer INCREASING incidence of Alzheimer’s disease. 2. List all the APOE SNPs that are discussed in this paper. Give the RS number (when cataloged) as well as the nucleotide position relative to the transcription start site of the gene. Which of the SNPs are located in transcriptional regulatory regions? Which of the SNPs define the classical allele
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Unformatted text preview: status? 3. The researchers determined the APOE sequences of several people with Alzheimers disease (AD) and without (controls). Table 4 shows the 10 common haplotypes they found. Which two haplotypes were least associated with AD? Which two haplotypes were most associated? Briefly, how was this determination made? 4. The first section in Table 5 shows the frequencies for each SNP minor allele among control individuals and those with D. (FYI, OR = odds ratio, see this link ). The data clearly show one SNP is strongly associated with AD. Which SNP is it and which allele of that SNP? 5. Four other SNPs show wekare but statistically significant associations with AD but the authors are skeptical about these associations. Why are they hesitant to interpret these associations and how do they rework the data to look more precisely for minor associations? 6. Read the discussion and tell me why the authors undertook this study and summarize their basic conclusions....
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This note was uploaded on 11/25/2009 for the course BI 379 taught by Professor Kavaler during the Spring '09 term at Colby.

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