This project involves collection, in the Syrian Arab Republic, of clinical information and blood samples for genotyping from highly inbred families with many members affected with cleft lip and palate. Cooperation with Syrian local investigators and a month long visit to Syria by Dr. Wyszynski when he was an NIH postdoctoral fellow have resulted in collection of many large pedigrees suitable for linkage analysis. Data collection is ongoing. A 10 cM homozygosity mapping genome scan has been completed with no positive results. A collaboration with Dr. Terri Beaty of JHUSPH has been initiated to increase power. Our samples from the first two large Syrian families were genotyped at CIDR along with Dr. Beaty's samples from several other sites and collaborative linkage analyses have been performed. Fine-mapping of several candidate regions implicated by suggestive lod scores has been performed and two papers presenting evidence for linkage to several candidate regions have been published. In addition, we have participated with Dr. Mary Marazita on a metaanalysis of our families and a large set of families from other investigators. The results of this metaanalysis have implicate several regions and have been published in this fiscal year. New Syrian families have been genotyped for genome-wide scan markers and analyses of these data are ongoing. Data collection is also ongoing in Syria.

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Intramural Research (Z01)
Project #
1Z01HG000109-08
Application #
6988613
Study Section
(IDRB)
Project Start
Project End
Budget Start
Budget End
Support Year
8
Fiscal Year
2004
Total Cost
Indirect Cost
Name
Human Genome Research
Department
Type
DUNS #
City
State
Country
United States
Zip Code
Marazita, Mary L; Murray, Jeffrey C; Lidral, Andrew C et al. (2004) Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35. Am J Hum Genet 75:161-73
Wyszynski, Diego F; Albacha-Hejazi, Hasan; Aldirani, Mohammed et al. (2003) A genome-wide scan for loci predisposing to non-syndromic cleft lip with or without cleft palate in two large Syrian families. Am J Med Genet A 123A:140-7
Zeiger, Joanna S; Hetmanski, Jacqueline B; Beaty, Terri H et al. (2003) Evidence for linkage of nonsyndromic cleft lip with or without cleft palate to a region on chromosome 2. Eur J Hum Genet 11:835-9