Applied to the study of the human genome, a goal of GWAS...

Question

Applied to the study of the human genome, a goal of GWAS is to locate chromosome regions that are likely to contain genes influencing the risk of disease. Specific genes can be identified in these regions, and particular mutant alleles that increase disease risk can be sequenced. To date, the identification of alleles that increase disease risk has occasionally led to a new therapeutic strategy, but more often the identification of disease alleles is the only outcome.

What is the value of being able to identify alleles that increase disease risk for a person who is currently free of the disease but who is at risk of developing the disease due to its presence in the family?

Accepted Answer

Hi, everybody. Our next question says, identifying individuals who carry a mutation for an autosomal recessive genetic disorder is important even if they are asymptomatic. If both parents are carriers, what is their chance of having a child that has a mutated phenotype? Choice? A 50%. B 25%. C 75% or D 100%. So, when we're talking about an autism, recessive disorder and both parents are carriers, that means both parents are heterozygote for this particular disorder. So we just need a simple four square punt square. We can call the stream A on the top, the heterozygous genotype for first parent, one dominant, one recessive A on the left side, same thing and just fill out our square here, top left homozygous dominant, bottom, left heterozygous, top, right, heterozygous and bottom, right square, homozygous recessive since having the mutated phenotype occurs when an individual is homozygous recessive. Then the chance of a child being homozygous recessive and having the disorder is one square out of four. So that is 1/4 or choice B 25%. So choice B 25% chance of a child inheriting a disorder when both parents are carriers for that disorder. See you on the next video.

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