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 29 large pedigrees suitable for linkage analysis by the technique of homozygosity mapping. 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 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 a paper presenting evidence for linkage to two candidate regions has been submitted. The new families have been genotyped for candidate regions and analyses of these data are ongoing in this fiscal year. Data collection is also ongoing in Syria. The most informative of the new families will be sent to the Center for Inherited Disease Research for genome wide scan genotyping in the next fiscal year.

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Intramural Research (Z01)
Project #
1Z01HG000109-06
Application #
6681498
Study Section
(IDRB)
Project Start
Project End
Budget Start
Budget End
Support Year
6
Fiscal Year
2002
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