Frequency of the thermolabile variant C677T in the MTHFR gene and lack of association with neural tube defects in the State of Yucatan, Mexico
Frequency of the thermolabile variant C677T in the MTHFR gene and lack of association with neural tube defects in the State of Yucatan, Mexico
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DOI：
10.1034/j.1399-0004.2002.620507.x
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发表时间：
2002-11-01
影响因子：
3.5
通讯作者：
Orozco-Orozco, L
中科院分区：
文献类型：
--
作者：
González-Herrera, L;García-Escalante, G;Orozco-Orozco, L
MTHFR基因中的C677T变异被认为是神经管缺陷的相关风险因素。然而，在某些族裔群体中没有发现这种关联。为了评估神经管缺陷和C677T变异之间的关联，我们确定了墨西哥尤卡坦州MTHFR基因中这种变异的频率，那里神经管缺陷非常普遍。该研究对65名脊柱裂患者，60名母亲和110名对照组进行了研究。C677T变异体的存在通过扩增和用HinF1消化每个受试者的DNA来确定。计算所有组的基因型和等位基因频率。我们没有观察到任何研究组病例和对照组之间的基因型或等位基因频率的统计学显著差异（p > 0.05），表明不耐热变体C677 T不是尤卡坦人口中神经管缺陷发展或母亲影响后代的相关风险因素。有趣的是，在尤卡坦半岛人群中获得的C677T变异体的频率（54%）是报道的最高频率之一（p < 0.01），并证实了该等位基因在整个墨西哥的高频率。
The C677T variant in the MTHFR gene is considered to be an associated risk factor for neural tube defects. However, the association has not been found in some ethnic groups. In order to assess the association between neural tube defects and the C677T variant, we determined the frequency of this variant in the MTHFR gene in the State of Yucatan, Mexico, where neural tube defects are highly prevalent. The study was performed on 65 subjects with spine bifida, 60 of their mothers and 110 control subjects. The presence of the C677T variant was determined by amplification and digestion with HinF1 of each subject's DNA. Genotypic and allelic frequencies were calculated for all groups. We did not observe any statistically significant difference in the genotypic or allelic frequencies between cases and controls for any of the groups studied ( p > 0.05), suggesting that the thermolabile variant C677T is not an associated risk factor neither for the development of neural tube defects nor for mothers to have affected offspring in the population from Yucatan. Interestingly, the frequency of the C677T variant ( 54%) obtained in the Yucatan population is one of the highest reported ( p < 0.01) and confirmed the high frequency of this allele throughout Mexico.