Association study of PHOX2B as a candidate gene for Hirschsprung's disease.

ABSTRACT: BACKGROUND:Hirschsprung's disease (HSCR) is a congenital disorder characterised by an absence of ganglion cells in the nerve plexuses of the lower digestive tract. Manifestation of the disease has been linked to mutations in genes that encode the crucial signals for the development of the enteric nervous system-the RET and EDNRB signalling pathways. The Phox2b gene is involved in neurogenesis and regulates Ret expression in mice, in which disruption of the Phox2b results in a HSCR-like phenotype. AIMS:To investigate the contribution of PHOX2B to the HSCR phenotype. METHODS:Using polymerase chain reaction amplification and direct sequencing, we screened PHOX2B coding regions and intron/exon boundaries for mutations and polymorphisms in 91 patients with HSCR and 71 ethnically matched control

SUBMITTER: Garcia-Barcelo M 

PROVIDER: S-EPMC1773584 | biostudies-literature | 2003 Apr

REPOSITORIES: biostudies-literature