不同地域复发性流产患者MTHFR基因多态性分析  

Analysis of MTHFR Gene Polymorphism in Patients with Recurrent Spontaneous Abortion in Different Regions of China

作　　者：宿喜萍 赵晓霞 陈多珍 李莉 SU Xiping;ZHAO Xiaoxia;CHEN Duozhen;LI Li(The Third People's Hospital of Gansu Province,Lanzhou City,Gansu Province,China 730000;The Second People's Hospital of Gansu Province/Affiliated Hospital of Northwest Minzu University,Lanzhou City,Gansu Province,China 730000)

机构地区：[1]甘肃省第三人民医院,甘肃兰州730000 [2]甘肃省第二人民医院/西北民族大学附属医院,甘肃兰州730000

出　　处：《卫生职业教育》2024年第24期139-143,共5页HEALTH VOCATIONAL EDUCATION

基　　金：甘肃省科技厅自然科学基金“育龄期妇女MTHFR基因多态性与叶酸浓度的关系”(20JR5A131)。

摘　　要：目的 探讨在兰州市汉族、甘南州藏族中MTHFR基因C677T和A1298C位点多态性与复发性流产的相关性。方法 根据不同地域、民族、是否有复发性流产史将纳入的200例样本分为4组,采用PCR扩增技术筛查MTHFR基因C677T、A1298C两个位点的分布,并进行多态性检测与分析。结果 MTHFR基因C677T、A1298C两个基因型分布频率病例组及对照组组内(除A1298C对照组组内)差异均无统计学意义(P>0.05),而组间差异均有统计学意义(P<0.05)。C677T位点在城市汉族对照组中CC频率较高,高原藏族对照组中TT频率较低。A1298C位点在城市汉族对照组中AC频率较高,高原藏族对照组中AA频率较高。等位基因分布显示,C677T位点的T等位基因对照组与病例组分布频率比较,差异均有统计学意义(P<0.05)。A1298C位点的A等位基因对照组A1与B1比较,分布频率差异有统计学意义(P<0.05),高原对照组与病例组各组间(B1与A2,B1与B2)比较,分布频率差异均具有统计学意义(P<0.05);C等位基因:结果与A等位基因一致。结论 在甘肃省汉族与藏族人群中,MTHFR C677T基因突变与复发性流产有关。T等位基因在健康人群及患病人群中具有明显差异,其可能是导致复发性流产的因素之一。A1298基因A、C位点的等位基因分布频率与复发性流产之间的关系不明确,可能与种族有关。Objective To explore the correlation between MTHFR gene C677T and A1298C polymorphism and recurrent spontaneous abortion in Han and Zang populations in Lanzhou City and Gannan Prefecture.Methods Based on different regions,ethnicities,and whether there is a history of recurrent spontaneous abortion or not,200 cases were divided into four groups.PCR amplification technology was used to screen the distribution of the MTHFR gene C677T and A1298C locus,and polymorphism detection and analysis were performed.Results There was no statistically significant difference in the distribution frequency of MTHFR gene C677T and A1298C genotypes between the case group and the control group(except for the A1298C control group)(P>0.05),while there was a statistically significant difference between the groups(P<0.05).The C677T locus has a higher CC frequency in the urban Han control group and a lower TT frequency in the high-altitude Zang control group.The A1298C locus has a higher AC frequency in the urban Han control group and a higher AA frequency in the high-altitude Zang control group.The distribution of alleles showed that there was a statistically significant difference in the frequency of T allele distribution between the control group and the case group at the C677T locus(P<0.05).There was a statistically significant difference in the distribution frequency of the A allele of the A1298C locus between the control group A1 and B1(P<0.05),and between the high-altitude control group and the case group(B1 and A2,B1 and B2),the distribution frequency differences were statistically significant(P<0.05).C allele:the result is consistent with the A allele.Conclusion MTHFR C677T gene mutation is associated with recurrent spontaneous abortion in Han and Zang populations in Gansu Province.The T allele has significant differences between healthy and diseased populations,and may be one of the factors leading to recurrent spontaneous abortion.The relationship between the distribution frequency of alleles at positions A and C of the A1298 ge

关 键 词：复发性流产 基因多态性 MTHFR 

分 类 号：R714.21[医药卫生—妇产科学]