Studying Genetics in Populations
One thing that annoys me when I read genetics news is the tendency of reporters to be overly excited about newly discovered genes and start talking about the profound impact the genes will have on everyone’s health. Newly discovered genes are usually found in small groups of individuals with special characteristics, such as twins or families with many members affected with a specific disease. Once a gene is found and mutations/variations identified, there are still many things that need to be understood before its importance in the general population is known.
Calculating how often specific genetic variations occur in the general population has proven to be difficult because screening large numbers of people is technologically challenging. Years ago, I genotyped thousands of people one by one without any automated technology. At the time, our lab was trying out a new robot arm that could preload samples, but I was too afraid of it messing up my precious data to use it. With the increasing number of DNA samples being collected by researchers, however, it is critical that faster and more accurate methods of DNA analysis be developed.
Professor Ian Day and colleagues at the University of Southampton have developed a way to rapidly and accurately identify mutations in the general population using a method called meltMADGE. (Genome Research 15:967-977, 2005) They examined the breast cancer 1 gene* (BRCA1) and low density lipoprotein receptor gene** (LDLR) in nearly 10,000 people and were able to detect severe, moderate, silent, and rare mutations.
Professor Day said, “This development enables us to look at the whole population and find rare and “special” individuals with gene changes which may have either mild, moderate, severe or protective disease effects, a bit like the medical equivalent of finding a needle in a haystack.”
Dr. Day has even coined a new term, “paucimorphisms,” for rare gene variants with moderate effects. Theoretically, it would require the combination of many extremely rare paucimorphisms to have enough impact. This concept applies directly to the idea that one day, all of us will be able to have our entire genomes sequenced and we will find some changes in our DNA that are specific only to us and a small percentage of other people in the population. With techniques like meltMADGE to sift through the data, we can look forward to drugs tailored to our individual needs.
*BRCA1 has been implicated in familial breast cancer, proliferative breast disease, ovarian cancer, papillary serous carcinoma of the peritoneum, prostate cancer.
**LDLR has been implicated in familial hypercholesterolemia
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POSTED IN: General Genetics and Health
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