神经管缺陷患者中秀丽隐杆线虫mab - 21样1基因人类同源物的分子遗传学分析
Molecular genetic analysis of human homologs of Caenorhabditis elegans mab-21-like 1 gene in patients with neural tube defects.
作者信息
Merello Elisa, De Marco Patrizia, Moroni Anna, Raso Alessandro, Calevo Maria Grazia, Consalez G Giacomo, Cama Armando, Capra Valeria
机构信息
Laboratorio della Unita' Operativa di Neurochirurgia, Istituto G. Gaslini, Genova, Italy.
出版信息
Birth Defects Res A Clin Mol Teratol. 2004 Nov;70(11):885-8. doi: 10.1002/bdra.20084.
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.
背景
神经管缺陷（NTDs）是复杂的胚胎畸形，在每1000例活产中影响1例。反义研究表明小鼠Mab21基因在神经管发育中起重要作用。我们研究了MAB21L1/L2基因是否可能参与NTDs的病因。
方法
对116例NTD病例进行MAB21基因的变性高效液相色谱（DHPLC）分析。采用病例对照方法检测MAB21L1基因的两个单核苷酸多态性（SNPs）是否可能与NTD风险增加相关。
结果
通过DHPLC分析未鉴定出MAB21L1/L2基因的病理变异。病例对照研究表明，MAB21L1基因中的两个SNPs（5'UTR中的CAG三联体；3'UTR中的A→C）不太可能直接导致脊髓脊膜膨出。
结论
我们认为MAB21基因不太可能对NTDs产生实质性影响。在得出确切结论之前，这些初步发现需要在更大的样本中进行研究。
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