Genetic studies of the cystathionine beta-synthase gene and myelomeningocele.

ABSTRACT:

Background

Among infants born with spina bifida, the most common defect is myelomeningocele (MM). The prevention of MM by maternal periconceptional folic acid (FA) supplementation has been studied extensively. The protective effect provided by FA suggests that the genes involved in folate metabolism, such as cystathionine beta-synthase (CBS), warrant further investigation.

Methods

This study sequenced the DNA from 96 patients with MM to identify novel potential disease-causing variants across the 17 exons of the CBS gene. The frequencies of known single nucleotide polymorphisms (SNPs) were identified, and sequences that differed from the reference sequences were considered novel variants. Statistical analysis was performed using two-sided Fisher's exact test to compare frequ

SUBMITTER: Tilley MM 

PROVIDER: S-EPMC3256260 | biostudies-literature | 2012 Jan

REPOSITORIES: biostudies-literature