论文部分内容阅读
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。
Objective To investigate the association between MTHFR and MTRR gene polymorphisms and spontaneous abortion of Uygur women in Xinjiang. Methods Seventy Uyghur women with abortion due to unknown causes were selected as the case group in 2016, and 70 Uighur women without obstetrics and gynecology were enrolled in this study. The venous blood samples were collected and the single nucleotide polymorphisms of MTHFR C677T, A1298C and MTRR A66G were detected by PCR-chip hybridization and fluorescence PCR-melting curve analysis. The polymorphisms of MTHFR and MTRR gene were analyzed with Uighur women The relationship between spontaneous abortion. Results The frequency of homozygous TT and TT + CT genotypes in MTHFR C677T locus was significantly higher than that in control group, and TT relative to CC + CT and TT + CT relative to CC spontaneous abortion had a strong relative risk, The frequency of T allele in case group was significantly higher than that in control group, and T relative to C allele also had a strong relative risk. The frequencies of CC and CC + AC genotypes in MTHFR A1298C site in case group were similar to those in control group, and the difference was not statistically significant either. There was no significant difference in C allele frequencies between the two groups. There was no significant difference in GG genotype frequency between MTRR A66G site and control group, but the frequency of GG + AG genotype was significantly higher than that of control group, and the relative risk of spontaneous abortion of GG + AG relative to AA genotype , While the case group G allele frequency was significantly higher than the control group, and G relative to the A allele of spontaneous abortion has a strong relative risk. Conclusion The genetic polymorphisms of MTHFR C677T and MTRR A66G locus in Xinjiang Uygur women are closely related to the occurrence of spontaneous abortion and have some predictive value for the possibility of abortion.