MTHFRC677T基因多态性与胎儿神经管畸形关系

Correlation between MTHFRC677T gene polymorphism and fetal neural tube defects

目的:探讨亚甲基四氢叶酸还原酶(MTHFR)C677T位点基因多态性与胎儿神经管畸形的相关性。方法:分别选择52例既往孕有神经畸形胎儿的女性(观察组)和50例正常孕育史女性(对照组),取肘静脉血采用TaqMan探针SNP基因分型技术检测MTHFR C677T位点基因多态性,循环酶法检测血清同型半胱氨酸Hcy水平。分析MTHFR C677T位点基因多态性与血清Hcy水平以及胎儿神经管畸形易感的相关性。结果:观察组MTHFR C677T位点TT基因型、等位T基因频率高于对照组(P<0.05)。观察组MTHFR C677T位点TT基因型受试者血清Hcy水平高于CC、CT基因型者(P<0.05);对照组MTHFR C677T位点3种基因型之间差距没有统计学意义(P>0.05)。二元logistic回归分析MTHFR C677T位点TT基因型[OR=2.003(95%CI:1.245~5.235)]携带者是胎儿神经管畸形易感的危险因素(P<0.05)。结论:MTHFR C677T位点携带TT基因型人群血清Hcy水平偏高,是胎儿神经管畸形易感的高危人群。

Objective:To investigate the relationship between the gene polymorphism of methylene tetrahydrofolate reductase(MTHFR)C677T locus and fetal neural tube defects.Methods:52 women with the past fetal neuropathy were selected in observation group and 50 women without fetal neuropathy history were selected in control group.The polymorphism of MTHFR C677T locus from elbow venous blood specimen was detected by TaqMan probe SNP genotyping technique.Enzyme method was used to detect serum Hcy levels.The correlation between the gene polymorphism of MTHFR C677T locus and serum Hcy level and the susceptibility of fetal neural tube defects was analyzed.Results:The frequency of TT genotype and allele T gene of the MTHFR C677T locus of women in the observation group were significant higher than those of women in the control group(P<0.05).In the observation group,the serum Hcy level of the women with TT genotype of the MTHFR gene was significant higher than that of women with CC and CT genotypes of the MTHFR gene(P<0.05).In the control group,there was no statistical significant difference in the gene frequency among the genotypes TT,CC and CT of the MTHFR C677T locus.Binary logistic regression analysis showed that the women with TT genotype of MTHFR C677T locus was the risk factors for fetal neural tube defects(OR=2.003,95%CI:1.245-5.235,P<0.05).Conclusion:The level of serum Hcy of the women with the TT genotype of MTHFR C677T locus is high and these women is included in the high risk group of fetal neural tube defects.