SNP DISCOVERY AND ANALYSIS IN CRANIOFACIAL BIRTH DEFECTS

Johns Hopkins University, Baltimore MD

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Linked publications & trials

Abstract

DESCRIPTION (Adapted from the Applicant's Description): This application proposes to locate single nucleotide polymorphisms SNPs using high throughput sequencing of genomic PCR products amplified from genes with demonstrated or presumed relevance to human birth defects. High throughput screening for this panel of SNPs will be applied first to a well characterized set of parent- offspring trios ascertained through a case with non-syndromic oral-facial clefts (OFC), including cleft lip with or without cleft palate (CLIP) and cleft palate (CP) using a high-throughput screening process, and second to patients with non-syndromic craniosynostosis. These case-parent trios are drawn from separate studies of oral clefts or craniosynostosis designed to identify genes involved in the etiology of this common group of birth defects and test for possible interaction with environmental exposures. The case- parent trio design proposed here tests for linkage in the presence of linkage disequilibrium, and the availability of these DNA samples on a large number of case-parent trios will allow immediate tests for the SNP markers developed as part of this proposal. Following the OFC study the investigators will extend SNP screening to a collection of craniosynostosis patients and their parents from a previous study conducted by the investigators and from the Centers of Birth Defect Research and Prevention sponsored by the Centers for Disease Control (CDC).