新疆昌吉地区育龄女性MTHFR基因C677T位点多态性分布及其与不良妊娠结局关系  

Distribution of methylenetetrahydro folic acidreductase gene C677T locus polymorphism of women of childbearing age and its correlation with the adverse pregnancy outcomes of the women in Changji of Xinjiang

作　　者：纪恺 朱焱 JI Kai;ZHU Yan(Changji Hui Autonomous Prefecture People's Hospital,Xinjiang Uygur Autonomous Region,831100)

机构地区：[1]新疆维吾尔自治区昌吉回族自治州人民医院,831100

出　　处：《中国计划生育学杂志》2024年第6期1453-1456,共4页Chinese Journal of Family Planning

摘　　要：目的:分析新疆昌吉地区育龄女性5,10-亚甲基四氢叶酸还原酶(MTHFR)基因C677T位点基因多态性分布及其与不良妊娠结局可能关系。方法:采集2023年5月-2024年2月本院就诊的育龄女性642例;另选有妊娠史285例,其中不良妊娠史146例为不良妊娠史组,正常生育无不良妊娠史139例为正常组。采集上述女性静脉血,采用荧光定量聚合酶链反应方法检测MTHFR基因C677T位点的多态性,分析其多态性特点。结果:642例育龄女性中MTHFR基因C677T位点CC、CT及TT基因型频率分别为26.0%、51.3%、22.7%,与中国南方和北方城市比较有差异(P<0.05),本次研究不同年龄段基因类型以及等位基因出现频数、频率比较未见差异(P>0.05)。不良妊娠史组及正常组正常无风险基因型(CC型)构成比分别为22.6%和27.3%,中度风险(CT型)的构成比分别为50.7%和51.8%,高度风险(TT型)的构成比分别为26.7%和20.9%,两组不同类型基因型比较有差异(P<0.05)。结论:MTHFR基因C677T位点基因型分布存在地区差异,纯合突变(TT型)与不良妊娠结局可能有关。Objective:To analyze the distribution of 5,10-methylenetetrahydro folic acidreductase(MTHFR)C677T locus polymorphism of women of childbearing age,and to study its correlation with the adverse pregnancy outcomes of the women in Changji of Xinjiang.Methods:642 women of childbearing age were collected in control group from May 2023 to February 2024.Another 285 women with pregnant history(in study group)were selected in study group,including 146 cases with adverse pregnant history in group A and 139 cases without adverse pregnant history in group B.The blood samples of the women in the control group and the study group were collected,and the polymorphism of MTHFR gene C677T locus of these women was detected by fluorescence quantitative polymerase chain reaction.The characteristics of the gene polymorphism of the women in these groups were analyzed.Results:The genotype frequencies of CC,CT and TT of MTHFR C677T locus of 642 women of childbearing age were 26.0%,51.3%and 22.7%,respectively,which were significantly different from those of the women in the southern and northern cities of China(P<0.05).In this study,there was no significant differences in the gene types and the frequency of alleles among the women with different age(P>0.05).The proportions of the normal non-risk genotype(CC genotype)of the women in group A and group B were 22.6%and 27.3%,the proportions of the moderate risk genotype(CT genotype)of the women in group A and group B were 50.7%and 51.8%,and the proportions of the high risk genotype(TT genotype)of the women in group A and group B were 26.7%and 20.9%.There were significant differences in the proportions of the different genotype of the women between group A and group B(P<0.05).Conclusion:The distribution of MTHFR C677T genotype of the women of childbearing age has significantly regional different and the homozygous mutation(TT Type)of the women may be associated with their adverse pregnancy outcomes.

关 键 词：基因多态性 亚甲基四氢叶酸还原酶 C677T 昌吉地区 不良妊娠 

分 类 号：R714.2[医药卫生—妇产科学]