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.

Agency
National Institute of Health (NIH)
Institute
National Institute on Deafness and Other Communication Disorders (NIDCD)
Type
Research Project (R01)
Project #
3R01DC004591-03S1
Application #
6698721
Study Section
Mammalian Genetics Study Section (MGN)
Program Officer
Shekim, Lana O
Project Start
2000-07-01
Project End
2004-06-30
Budget Start
2003-01-01
Budget End
2003-06-30
Support Year
3
Fiscal Year
2003
Total Cost
$39,893
Indirect Cost
Name
Allegheny-Singer Research Institute
Department
Type
DUNS #
033098401
City
Pittsburgh
State
PA
Country
United States
Zip Code
15212
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