Identification of microdeletions in candidate genes for cleft lip and/or palate.

ABSTRACT:

Background

Genome-wide association studies are now used routinely to identify genes implicated in complex traits. The panels used for such analyses can detect single nucleotide polymorphisms and copy number variants, both of which may help to identify small deleted regions of the genome that may contribute to a particular disease.

Methods

We performed a candidate gene analysis involving 1,221 SNPs in 333 candidate genes for orofacial clefting, using 2,823 samples from 725 two- and three-generation families with a proband having cleft lip with or without cleft palate. We used SNP genotyping, DNA sequencing, high-resolution DNA microarray analysis, and long-range PCR to confirm and characterize the deletion events.

Results

This dataset had a high duplicate reproducibili

SUBMITTER: Shi M 

PROVIDER: S-EPMC3682790 | biostudies-literature | 2009 Jan

REPOSITORIES: biostudies-literature