RET polymorphisms and the risk of Hirschsprung's disease in a Chinese population.

doi:10.1007/s10038-008-0315-x

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Article

RET polymorphisms and the risk of Hirschsprung's disease in a Chinese population.

Journal of human genetics - 1 Jan 2008

Liu Cuiping, Jin Lei, Li Hui, Lou Jintu, Luo Chunfen, Zhou Xuewu, Li Ji-Cheng

Abstract excerpt

Hirschsprung's disease (HSCR) is a congenital disorder characterized by intestinal obstructions due to the absence of enteric ganglia along variable lengths of the intestinal tract. RET coding mutations have been found in approximately 50% of familial cases, but they only explain a minority of sporadic cases. Here, we report our investigation of a possible role of RET non-coding mutations in sporadic HSCR...

Topics

China
Female
Gene Frequency
Genetic Predisposition to Disease
Genetics, Population
Hirschsprung Disease
Humans
Linkage Disequilibrium
Male
Polymorphism, Single Nucleotide
Proto-Oncogene Proteins c-ret
Risk Factors

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PMID: 18612588
DOI: 10.1007/s10038-008-0315-x

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