Molecular genetic analysis of human homologs of Caenorhabditis elegans mab-21-like 1 gene in patients with neural tube defects

Research output: Contribution to journalArticle

Abstract

BACKGROUND: Neural tube defects (NTDs) are complex embryological malformations, affecting 1 in 1,000 live births. Antisense studies have implicated murine Mab21 genes as having an important role in neural tube development. We investigated whether MAB21L1/L2 genes could be involved in the aetiology of NTDs. METHODS: Denaturing HPLC (DHPLC) analysis of MAB21 genes was performed in 116 NTD cases. A case-control approach was used to test if the two single nucleotide polymorphisms (SNPs) of the MAB21L1 gene might be associated with increased NTD risk. RESULTS: No pathological variants of MAB21L1/L2 genes were identified by DHPLC analysis. Case-control studies demonstrated that the two SNPs (CAG triplets in 5′UTR; A→C in 3′UTR) in the MAB21L1 gene are unlikely to be directly responsible for myelomeningocele. CONCLUSIONS: We suggest that MAB21 genes are unlikely to have substantial impact on NTDs. These preliminary findings will need to be investigated in larger samples before firm conclusions can be made.

Original languageEnglish
Pages (from-to)885-888
Number of pages4
JournalBirth Defects Research Part A - Clinical and Molecular Teratology
Volume70
Issue number11
DOIs
Publication statusPublished - Nov 2004

ASJC Scopus subject areas

  • Developmental Biology

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