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.
| Post, J Christopher; Ze, Fen; Ehrlich, Garth D (2005) Genetics of pediatric gastroesophageal reflux. Curr Opin Allergy Clin Immunol 5:5-9 |
| Hu, F Z; Nystrom, A; Ahmed, A et al. (2005) Mapping of an autosomal dominant gene for Dupuytren's contracture to chromosome 16q in a Swedish family. Clin Genet 68:424-9 |
| Hu, Fen Ze; Donfack, Joseph; Ahmed, Azad et al. (2004) Fine mapping a gene for pediatric gastroesophageal reflux on human chromosome 13q14. Hum Genet 114:562-72 |
| Hu, F Z; Preston, R A; Post, J C et al. (2000) Mapping of a gene for severe pediatric gastroesophageal reflux to chromosome 13q14. JAMA 284:325-34 |
| Hu, F Z; Post, J C; Johnson, S et al. (2000) Refined localization of a gene for pediatric gastroesophageal reflux makes HTR2A an unlikely candidate gene. Hum Genet 107:519-25 |
