Single nucleotide polymorphism discovery in TBX1 in individuals with and without 22q11.2 deletion syndrome.

ABSTRACT:

Background

Children with 22q11.2 deletion syndrome (22q11.2DS) have a wide range of clinical features. TBX1 has been proposed as a candidate gene for some of the features in this condition. Polymorphisms in the nondeleted TBX1, which may affect the function of the sole TBX1 gene in individuals with the 22q11.2DS, may be a key to understanding the phenotypic variability among individuals with a shared deletion. Comprehensive single nucleotide polymorphism (SNP) discovery by resequencing candidate genes can identify genetic variants that influence a given phenotype. The purpose of this study was to further characterize the sequence variability in TBX1 by identifying all common SNPs in this gene.

Methods

We resequenced TBX1 in 29 children with a documented 22q11.2 deletion and

SUBMITTER: Heike CL 

PROVIDER: S-EPMC4535433 | biostudies-literature | 2010 Jan

REPOSITORIES: biostudies-literature