title: Molecular genetic analysis of human homologs of Caenorhabditis elegans mab-21-like 1 gene in patients with neural tube defects.
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.
authors.affiliation: Laboratorio della Unita' Operativa di Neurochirurgia, Istituto G. Gaslini, Genova, Italy.
authors.forename: Elisa
authors.initials: E
authors.lastname: Merello
authors.forename: Patrizia
authors.initials: P
authors.lastname: De Marco
authors.forename: Anna
authors.initials: A
authors.lastname: Moroni
authors.forename: Alessandro
authors.initials: A
authors.lastname: Raso
authors.forename: Maria Grazia
authors.initials: MG
authors.lastname: Calevo
authors.forename: G Giacomo
authors.initials: GG
authors.lastname: Consalez
authors.forename: Armando
authors.initials: A
authors.lastname: Cama
authors.forename: Valeria
authors.initials: V
authors.lastname: Capra
mesh_terms: D020413:3' Untranslated Regions; D020121:5' Untranslated Regions; D000818:Animals; D017173:Caenorhabditis elegans / Q000235:genetics*; D016022:Case-Control Studies; D002851:Chromatography, High Pressure Liquid; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008967:Molecular Biology; D009436:Neural Tube Defects / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D029961:Zebrafish Proteins / Q000235:genetics
chemical_list: D020413:3' Untranslated Regions; D020121:5' Untranslated Regions; D018398:Homeodomain Proteins; C499231:MAB21L1 protein, human; D029961:Zebrafish Proteins