MTHFR和MTRR基因多态性与新疆维吾尔族女性自然流产的相关性研究被引量：3

Correlation Analysis between MTHFR and MTRR Gene Polymorphism and Natural Abortion of Xinjiang Uygur Women

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摘要目的探讨MTHFR和MTRR基因多态性与新疆维吾尔族女性自然流产的相关性。方法选取某院2016年因不明原因流产的维吾尔族女性患者70例为病例组,同期产科正常生育、无不良孕产史的维吾尔族女性70例为对照组。取静脉血样本,采用PCR-芯片杂交法和荧光PCR-熔解曲线法检测MTHFR C677T、A1298C位点,MTRR A66G位点单核苷酸多态性,分析MTHFR和MTRR基因多态性与维吾尔族女性自然流产之间的关系。结果病例组MTHFR C677T位点纯合突变TT以及TT+CT基因型频率均较对照组明显升高,且TT相对于CC+CT,及TT+CT相对于CC的自然流产具有强相对危险度,且病例组T等位基因频率较对照组明显升高,T相对于C等位基因的自然流产同样具有强相对危险度。病例组MTHFR A1298C位点CC以及CC+AC基因型频率与对照组相当,差异均无统计学意义,且两组C等位基因频率差异亦无统计学意义。病例组MTRR A66G位点GG基因型频率与对照组差异无统计学意义,但GG+AG基因型频率明显高于对照组,且GG+AG相对于AA基因型的自然流产同样具有强相对危险度,同时病例组G等位基因频率较对照组明显升高,且G相对于A等位基因的自然流产具有较强的相对危险度。结论新疆维吾尔族女性MTHFR C677T及MTRR A66G位点的基因多态性与自然流产的发生密切相关,对受检者发生流产的可能性具有一定的预判价值。 Objectives To explore the correlation between MTHFR and MTRR gene polymorphism and spontaneous abortion of Xinjiang Uygur women. Methods 70 cases of Uygur female patients who had miscarriage in 2016 were selected as the case group, and 70 cases of Uygnr women with no adverse pregnancy history were treated as control group. To take venous blood samples, use the method of PCR chip hybridization and fluorescence PCR melting curve method to detect MTHFR C677T and A1298C site, MTRR A66G loci, single nucleotide polymorphism （SNP） analysis of MTHFR and MTRR gene polymorphism and the relationship between the Uygur women abortion. Results In the cases group, MTHFR C677T site homozygous mutations TF and TT ＋ CT genotype frequency were higher than the control group obviously, and relative to the CC ＋ CT, TIP and TI＇＋ CT had strong relative risk of spontaneous abortion in relative to the CC, and CPT T allele frequency higher than the control group obviously, T compared with the C allele equally strong relative risk miscarriage. In the case group, MTHFR A1298C site CC and CC ＋ AC genotype frequency were equivalent to the control group, and the difference was not statistically significant, and the frequency difference of the two groups of C allele was not statistically significant. In the cases group, MTRR A66G site there was no statistically significant difference GG genotype frequency and the control group, but GG ＋ AG genotype frequency is s!gnifieantly higher than the control group, and relative to the AA genotype GG ＋ AG also had strong relative risk of spontaneous abortion, at the same time in the cases group, G allele frequency higher than the control group obviously, relative to A and G allele had stronger relative risk for spontaneous abortion. Conclusions The genetic polymorphism of MTHFR C677T and MTRR A66G site in Xinjiang Uygur women were closely related to the occurrence of spontaneous abortion, and the possibility of miscarriage was of certain predetermination value.