Genomics & Genetics Weekly
Welcome to NewsRx!
Learn more about a six-week, no-risk free trial of Genomics & Genetics Weekly
We're a pay-per-view site for premium content. If you'd like to purchase this article, it's only $3.00.
Genetics & Genomics
Regulatory single nucleotide polymorphism causes a human genetic disease
July 14th, 2006
According to recent research from England published in the journal Science, a regulatory single nucleotide polymorphism (SNP) causes a human genetic disease by creating a new transcriptional promoter. "We describe a pathogenetic mechanism underlying a variant form of the inherited blood disorder thalassemia," wrote M. Degobbi and colleagues, John Radcliffe Hospital. "Association studies of affected individuals from Melanesia localized the disease trait to the telomeric region of human chromosome 16, which includes the alpha-globin gene cluster, but no molecular defects were detected by conventional approaches. "After...
Source: Genomics & Genetics Weekly (2006-07-14)
|
