Article
Haplotypes of the human RET proto-oncogene associated with Hirschsprung disease in the Italian population derive from a single ancestral combination of alleles.
Annals of human genetics - 1 Jan 2006
Lantieri F, Griseri P, Puppo F, Campus R, Martucciello G, Ravazzolo R, Devoto M, Ceccherini I
Abstract excerpt
The RET proto-oncogene is the major gene involved in the complex genetics of Hirschsprung disease (HSCR), or aganglionic megacolon, showing causative loss-of-function mutations in 15-30% of the sporadic cases. Several RET polymorphisms and haplotypes have been described in association with the disease, suggesting a role for this gene in HSCR predisposition, also in the absence of mutations in the coding region....
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