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Genomic detectives crack the case of the missing heritability
Date:2/22/2013

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Passed down from parent to child, genes determine not only eye color and other physical characteristics but also the risk of diseases. Some inherited diseases are caused by a mutation in a single gene. These single-gene disorders have well-defined patterns of inheritance that can be used to predict the chances that an individual will inherit the disease.

However, many diseases and physical traits arise due to multiple genes, multiple locations within genes, and even the regions of DNA between genes. Across the genome which is an individual's total genetic content small variations in DNA code can, when added together, increase or decrease the likelihood that a person will develop a disease or characteristic.

Height, for example, results from variations in DNA at multiple locations on the genome. Researchers have detected about 180 locations in the human genome where small alterations in the DNA code can have an influence on how tall or short a person is. Nonetheless, these locations account for only 13 percent of the expected contribution genetic code has on a person's height.

Type 2 diabetes also has missing heritability: About 40 identified genome locations are associated with the risk of developing the condition, but those account for only 10 percent of the estimated genetic influence. Finding the missing heritability for diseases like type 2 diabetes, Crohn's disease and schizophrenia could help inform prevention and treatment strategies.

In the present study, the researchers scanned the genomes of yeast cells for DNA variations which can be thought of as spelling errors in the four-letter DNA code and then matched those variations with qualities or characteristics inherited from the cells' parents. This type of study, known as a genome-wide association study (GWAS), is a common tool for searching for diseases and traits associated with variations in the genome. The researchers detected numerous DNA va
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Contact: Morgan Kelly
mgnkelly@princeton.edu
609-258-5729
Princeton University
Source:Eurekalert  

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