探讨新疆地区不同民族育龄妇女胚胎停育(EA)与叶酸代谢酶基因[亚甲基四氢叶酸还原酶(MTHFR)基因与甲硫氨酸合成酶还原酶(MTRR)基因]多态性及染色体异常的相关性。

采用随机数字表法，选择2017年5月至2020年1月在新疆维吾尔自治区第八人民医院因EA就诊的200例育龄妇女(以下简称为EA患者)为研究对象。根据不同民族，将其分为汉族组(n＝100)和维吾尔族组(n＝100)。采用实时荧光定量聚合酶链式反应(qRT-PCR)技术，检测2组EA患者的MTHFR基因C677T、A1298C位点变异基因型和MTRR基因A66G位点变异基因型，完成基因分型，并对染色体异常进行分析。采用Spearman秩相关分析，对2组EA患者MTHFR基因多态性与染色体异常进行相关性分析。本研究遵循的程序符合2013年新修订的《世界医学协会赫尔辛基宣言》要求，并与受试者本人签署临床研究知情同意书。

①汉族组EA患者MTHFR基因C677T位点的CC、CT基因型占比(18.0%、36.0%)及MTRR基因A66G位点的AA基因型(38.0%)占比，均低于维吾尔族组(38.0%、56.0%、65.0%)，并且差异均有统计学意义(χ²＝9.92、8.05、14.59，P<0.05)；汉族组MTHFR基因C677T位点的TT基因型占比(46.0%)和MTRR基因A66G位点的AG、GG基因型占比(40.0%、22.0%)，均高于维吾尔族组(6.0%、33.0%、2.0%)，并且差异亦均有统计学意义(χ²＝41.58、14.59、6.71，P<0.05)。②汉族组EA患者MTHFR基因C677T位点C等位基因(35.0%)、MTRR基因A66G位点A等位基因(68.0%)占比，均低于维吾尔族(66.0%、82.0%)，并且差异均有统计学意义(P<0.05)；汉族组MTHFR基因C677T位点T等位基因及MTRR基因A66G位点的G等位基因分布频率，均高于维吾尔族组，并且差异亦均有统计学意义(P<0.05)。③纳入本研究的200例EA患者染色体异常发生率为27.5%(45/200)。对2组EA患者进行Spearman秩相关分析结果显示，其染色体异常发生率与MTHFR基因C677T位点变异基因型、MTRR基因A66G位点变异基因型的表达呈正相关性(r_s＝0.625，P＝0.031；r_s＝0.784，P＝0.022)。

新疆地区不同民族EA患者MTHFR基因多态性分布较广，而且与染色体异常存在一定相关性。

To investigate correlation between embryonic abortion(EA) and methylenetetrahydrofolate reductase (MTHFR) gene and methionine synthase reductase (MTRR) gene polymorphisms and chromosomal abnormalities in women of childbearing age in Xinjiang.

From May 2017 to January 2020, a total of 200 women of childbearing age who were treated at the Eighth People′s Hospital of Xinjiang Uygur Autonomous Region for EA were selected into this study. According to different nationalities, they were divided into Han group (n=100) and Uygur group (n=100). The MTHFR gene C677T, MTHFR gene A1298C and MTRR gene A66G were detected by real-time fluorescence quantitative polymerase chain reaction (qRT-PCR) technology, and genotyping and chromosome abnormality were analyzed. The study met requirements of Helsinki Declaration of World Medical Association newly revised in 2013. Informed consent was obtained from each participate.

①In the Han group, the percentage of CC and CT genotypes at the C677T locus of MTHFR gene (18.0%, 36.0%) and the percentage of AA genotypes at the A66G locus of MTRR gene (38.0%) were lower than those in the Uygur group (38.0%, 56.0%, 65.0%), and the differences were statistically significant when compared between two groups (χ²=9.92, 8.05, 14.59; P<0.05). And in the Han group, the percentage of TT genotype at the C677T locus of the MTHFR gene (46.0%) and the percentage of AG and GG genotypes at the A66G locus of the MTRR gene (40.0%, 22.0%) were higher than those in the Uygur group (6.0%, 33.0%, 2.0%), and the differences were also statistically significant when compared between groups (χ²=41.58, 14.59, 6.71, P<0.05). ②The proportions of C allele at the C677T locus of MTHFR gene (35.0%) and A allele at the A66G locus of MTRR gene (68.0%) in the Han group were lower than those in the Uygur group (66.0% and 82.0%), and the difference were statistically significant (P<0.05) when comparing between two groups; the proportions of T allele at the C677T locus of MTHFR gene and the G allele at the A66G locus of MTRR gene in the Han group were higher than those in the Uygur group, and the differences were also statistically significant (P<0.05) when comparing between two groups. The distribution of G alleles at the C677T locus of the MTHFR gene and the A66G locus of the MTRR gene in the Han group were higher than those in the Uygur group, and the differences were statistically significant (P<0.05) when comparing between two groups. ③The incidence of chromosomal abnormalities in 200 patients was 27.5% (45/200). Spearman rank correlation analysis showed a positive correlation between the incidence of chromosomal abnormalities and the expression of MTHFR gene C677T and MTRR gene A66G in patients with EA (r_s=0.625, P=0.031; r_s=0.784, P=0.022).

The polymorphism of MTHFR gene in women of childbearing age in Xinjiang is widely distributed, and there is a certain correlation with chromosome abnormality.