Deep sequencing study of the MTHFR gene to identify variants associated with myelomeningocele.

ABSTRACT:

Introduction

Neural tube defects (NTDs) are congenital anomalies caused by a combination of genetic and environmental influences. A defect below the head region resulting in protuberance of meninges and nervous tissue is termed myelomeningocele (MM). MM, the most common NTD compatible with survival, occurs in approximately 1 in 1000 births worldwide. Maternal preconceptional and periconceptional folate supplementation reduces the risk of NTDs by up to 70%. A key enzyme in folate metabolism is 5, 10-methylene-tetrahydrofolate reductase (MTHFR).

Objectives

Sequence the 12 exons of the MTHFR gene among 96 subjects with MM to identify variants potentially contributing to the disease trait.

Methods

Exons were amplified by polymerase chain reaction, and the products were se

SUBMITTER: Aneji CN 

PROVIDER: S-EPMC3327553 | biostudies-literature | 2012 Feb

REPOSITORIES: biostudies-literature