土耳其非综合征性唇腭裂患者亚甲基四氢叶酸还原酶（MTHFR）基因多态性的测定
Determination of Methylenetetrahydrofolate Reductase (MTHFR) gene polymorphism in Turkish patients with nonsyndromic cleft lip and palate.
作者信息
Aşlar Deniz, Özdiler Erhan, Altuğ Ayşe Tuba, Taştan Hakkı
机构信息
Department of Biology, Faculty of Science, Gazi University, Ankara, Turkey.
出版信息
Int J Pediatr Otorhinolaryngol. 2013 Jul;77(7):1143-6. doi: 10.1016/j.ijporl.2013.04.022. Epub 2013 May 29.
OBJECTIVE
To investigate the association between MTHFR C677T polymorphism and Turkish patients with nonsyndromic cleft lip and/or palate (nsCL/P) and to determine the prevalence of the Turkish population.
PATIENTS AND METHODS
Molecular analysis of gene polymorphisms were carried out using polymerase chain reactions and restriction enzyme digestions. In our study, 80 patients with nsCL/P and 125 unrelated individuals from Turkey were studied.
RESULTS
We found that MTHFR C677T polymorphism is a significant risk factor for nsCL/P in Turkey (p=0.0004). These results support the impact of MTHFR C677T polymorphism and importance of folic acid intake in the etiology of nsCL/P.
CONCLUSIONS
MTHFR gene which is localized in the relevant region of chromosome 1p36.3 not been studied Turkish patients with nsCL/P and the prevalence of our country not to be determined. We revealed statistically association between the MTHFR C677T gene polymorphism and nonsyndromic cleft lip and/or palate in the Turkish population.
目的
研究亚甲基四氢叶酸还原酶（MTHFR）C677T基因多态性与土耳其非综合征性唇腭裂（nsCL/P）患者之间的关联，并确定土耳其人群中的患病率。
患者与方法
采用聚合酶链反应和限制性内切酶消化法进行基因多态性的分子分析。在我们的研究中，对80例nsCL/P患者和125名来自土耳其的无关个体进行了研究。
结果
我们发现MTHFR C677T基因多态性是土耳其nsCL/P的一个显著危险因素（p = 0.0004）。这些结果支持了MTHFR C677T基因多态性的影响以及叶酸摄入在nsCL/P病因学中的重要性。
结论
位于1p36.3染色体相关区域的MTHFR基因尚未在土耳其nsCL/P患者中进行研究，我国的患病率也尚未确定。我们揭示了土耳其人群中MTHFR C677T基因多态性与非综合征性唇腭裂之间的统计学关联。
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