Exploration of the Human Genome by Investigation of Personalized SNPs
1. List the 3-5 health-related SNPs discovered on SNPedia in which you have a personal
interest. For each SNP, write one or two sentences describing
...
Exploration of the Human Genome by Investigation of Personalized SNPs
1. List the 3-5 health-related SNPs discovered on SNPedia in which you have a personal
interest. For each SNP, write one or two sentences describing why you feel personally
invested in learning more information about it.
1. rs333: This SNP is on the allele CCR5 and is a deletion of 32 nucleotides. The subsequent
deletion renders the individual partially resistant to HIV infection (SNPedia.com). Selective
pressure for this genotype is thought to have resulted from resistance to the plague
(SNPedia.com). I am interested in this SNP because HIV is a prevalent infection in sub-Saharan
Africa. This region has one of the highest rates of HIV infection in the international community.
Given the high rate of carriers in the Caucasian population, I am curious to see what the rate of
carriers are in sub-Saharan Africa.
2. rs4988235: This SNP is on the MCM6 gene and is associated with lactose intolerance. Those
with the T allele are able to digest lactose, while those with the C allele are more likely to be
lactose intolerant. I am interested in this SNP because I am lactose intolerant, but have become
less so in previous years. I believe I have the C allele because of my lactose intolerance and
ethnic heritage.
3. rs148833559: The SNP has been shown to have significance in determining height. Those
with the minor allele (STC2) gene are 2.1 cm taller than those without the allele. I am interested
in this SNP because I knew height was determined by both genetics and environment, and I am
skeptical of the fact that environmental factors were not considered for the statistical
significance.
2. Use the UCSC Genome Browser to uncover the precise chromosomal location for one of
the SNPs listed above. Make sure to write down the chromosome number along with the
base pair position in your answer and confirm that this corresponds to the chromosomal
picture at the top of the page
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