Molecular genetic analysis of human homologs of Caenorhabditis elegans mab-21-like 1 gene in patients with neural tube defects.
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.
Merello
Elisa
E
Laboratorio della Unita' Operativa di Neurochirurgia, Istituto G. Gaslini, Genova, Italy.
De Marco
Patrizia
P
Moroni
Anna
A
Raso
Alessandro
A
Calevo
Maria Grazia
MG
Consalez
G Giacomo
GG
Cama
Armando
A
Capra
Valeria
V
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
D020413:3' Untranslated Regions; D020121:5' Untranslated Regions; D018398:Homeodomain Proteins; C499231:MAB21L1 protein, human; D029961:Zebrafish Proteins