GENETICS OF SEVERE PEDIATRIC GASTROESOPHAGEAL REFLUX

Allegheny-Singer Research Institute, Pittsburgh PA

Investigators

Linked publications & trials

Abstract

DESCRIPTION (Adapted from investigator's abstract): Proposal to identify the gene responsible for autosomal dominant gastro-esophageal reflux. PI has already collected 8 families with autosomal dominant GER and mapped a gene within a 9 cM region on chromosome 13q14 (paper submitted). They are proposing to gather more families, narrow region, scan already existing ESTs in region for mutations, and identify new genes in high throughput genome sequence (htgs) database at NCBI. As they are doing this, they will also cover region in YAC and BAC contig and use genomic pull down (cDNA selection) to find genes expressed in a griddled gastroesophageal library they will construct from whole esophagus, including autonomic nerve trunks.