14 April 2005
Complex disease made simpler
Hirschsprung disease is a rare congenital bowel disorder in which the ganglion cells that control the bowel's rhythmic contractions are missing. The disease runs in families and affects boys more often than girls, but it has a complex inheritance pattern. Now by merging data from comparative genomics and haploid mapping it has been possible to localize a common non-coding mutation in the gene for the receptor tyrosine kinase RET. This allele is relatively common in the general population and causes Hirschsprung disease only in the presence of additional mutations. The techniques used in this study should lend themselves to unravelling the nature of other complex diseases.
A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk
EILEEN SPROAT EMISON et al.
Nature 434, 857–863 (2005); doi:10.1038/nature03467
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