| Literature DB >> 15185170 |
Mary L Marazita1, Jeffrey C Murray, Andrew C Lidral, Mauricio Arcos-Burgos, Margaret E Cooper, Toby Goldstein, Brion S Maher, Sandra Daack-Hirsch, Rebecca Schultz, M Adela Mansilla, L Leigh Field, You-e Liu, Natalie Prescott, Sue Malcolm, Robin Winter, Ajit Ray, Lina Moreno, Consuelo Valencia, Katherine Neiswanger, Diego F Wyszynski, Joan E Bailey-Wilson, Hasan Albacha-Hejazi, Terri H Beaty, Iain McIntosh, Jacqueline B Hetmanski, Gökhan Tunçbilek, Matthew Edwards, Louise Harkin, Rodney Scott, Laurence G Roddick.
Abstract
Isolated or nonsyndromic cleft lip with or without cleft palate (CL/P) is a common birth defect with a complex etiology. A 10-cM genome scan of 388 extended multiplex families with CL/P from seven diverse populations (2,551 genotyped individuals) revealed CL/P genes in six chromosomal regions, including a novel region at 9q21 (heterogeneity LOD score [HLOD]=6.6). In addition, meta-analyses with the addition of results from 186 more families (six populations; 1,033 genotyped individuals) showed genomewide significance for 10 more regions, including another novel region at 2q32-35 (P=.0004). These are the first genomewide significant linkage results ever reported for CL/P, and they represent an unprecedented demonstration of the power of linkage analysis to detect multiple genes simultaneously for a complex disorder.Entities:
Mesh：
Substances：
Year: 2004 PMID： 15185170 PMCID： PMC1216052 DOI： 10.1086/422475
Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025