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.
From a physician's point of view, what is the value of being able to identify alleles that increase the risk of a particular disease?

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.
From a physician's point of view, what is the value of being able to identify alleles that increase the risk of a particular disease?

From a physician's point of view, what is the value of being able to identify alleles that increase the risk of a particular disease?

Accepted Answer

Hello, everyone and welcome to today's video. So genome Wide Association studies aim to determine a DNA marker to a quantitative trade loss, which is Q T L between parenthesis that influences a particular disease. So it is different from Q T L because it can scan the whole genome, which of the following diseases can be effectively investigated by genome wide association studies. Plus as answer choice A we have Down Syndrome as answer choice. B we have sickle cell anemia as answer choice C we have the Kline Falter syndrome and as answer choice D we have Crohns disease. Now I really want you to think about from previous videos, what Crohn B CS is going to be and as it turns out there is no single gene or so abnormality that is directly influencing prone disease. Now, through these genome wide association analysis, we have identified nine different regions in the genome that have significant associations with CD. So this is a genome wide. This is and so we need to investigate the entire genome in order to identify it. Now, down syndrome, sickle cell anemia or the Kline Filter syndrome are going to be diseases that are associated with either abnormalities or gene mutations. They are not going to be created or resulting from these genome wide mutations or these genome wide changes. And therefore, we're going to cancel all of them out. The only disease here that requires these genome wide association studies or this G W A S is going to be Cron disease. So we're going to highlight it as a final answer to our question. I really hope this helped you and I hope to see you on the next one.

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Key Concepts

Genome-Wide Association Studies (GWAS)

Alleles and Disease Risk

Clinical Implications of Genetic Testing