Hirschsprung disease occurs in 1 in every 5,000 live births, making it relatively common. The disorder affects the large intestine and renders it more susceptible to infection. Because the inheritance pattern is so complex, scientists have struggled to understand the genetic risk factors underlying this disorder, but a paper appearing in 14 April 2005 issue of Nature (Vol. 434, No. 7035, pp. 857-863) offers new clues. The results of the investigation show that a common, sex-dependent mutation underlies vulnerability to Hirschsprung disease.
Aravinda Chakravarti and colleagues took a novel approach to locate the mutation. The team combined comparative genomic analysis of sequences from a number of organisms with genetic association studies in humans to find the affected region of DNA. Their work gives researchers fresh insight into common, non-coding mutations that can contribute to complex diseases.
Aravinda Chakravarti (Johns Hopkins University, Baltimore, MD, USA)
(C) Nature press release.
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