Cleft lip with or without cleft palate (CL/P) are very common structural birth defects. CL/P is predominantly sporadic in occurrence and about 22 percent of patients with facial clefts have a genetic origin. Linkage analysis and/or association studies have allowed narrowing down several candidate regions, but not sufficiently to indicate likely candidate genes for re-sequencing from patients. The goal of this proposal is to survey the genome for candidate regions by searching for micro-deletions/duplications and to compare the relative efficacy of this approach with the more conventional genetic association studies to identify candidate genes for CL/P. Our approach is based on comparative genomic hybridization (CGH) using very-high resolution BAG arrays to screen for genomic segments involved in copy-number changes.
The specific aims are to: (1) Perform array CGH from 200 patient DNA samples over 2 years; (2) Identify sporadic deletions/duplications possibly shared between multiple patients; (3) Search for candidate genes from the common deletion region through public databases. (4) Confirm alleged genomic rearrangements in a representative set of samples by fluorescent in situ hybridization of BACs to the chromosomes from patients and parents.

Agency
National Institute of Health (NIH)
Institute
National Institute of Dental & Craniofacial Research (NIDCR)
Type
Exploratory/Developmental Grants (R21)
Project #
1R21DE017005-01
Application #
6962888
Study Section
Special Emphasis Panel (ZRG1-MOSS-A (91))
Program Officer
Small, Rochelle K
Project Start
2005-09-01
Project End
2007-08-31
Budget Start
2005-09-01
Budget End
2006-08-31
Support Year
1
Fiscal Year
2005
Total Cost
$200,125
Indirect Cost
Name
Children's Hospital & Res Ctr at Oakland
Department
Type
DUNS #
076536184
City
Oakland
State
CA
Country
United States
Zip Code
94609