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新疆伊犁州624例育龄女性MTHFR C677T基因的多态性分析OA

Analysis on MTHFR C677T gene polymorphism in 624 women of childbearing age in Yili Kazak Autonomous Prefecture

中文摘要英文摘要

目的 分析新疆维吾尔自治区伊犁哈萨克自治州(伊犁州)育龄期女性亚甲基四氢叶酸还原酶(MTHFR)C677T基因的多态性分布及其区域遗传特性,并比较该地区汉族与其他少数民族之间的基因频率差异,为临床指导育龄期女性合理补充叶酸提供遗传学参考.方法 选取2023年8月至2024年11月于该院接受孕前与孕期体检的624例育龄期女性为研究对象.采用qPCR技术对MTHFR C677T基因位点的多态性进行精准测定并对基因型及等位基因频率进行统计,与其他区域相关数据进行比较分析.结果 624例育龄期女性MTHFR C677T基因多态性CC、CT及TT基因型频率分别为33.8%、45.4%和20.8%,等位基因C和T分别为56.5%和43.5%,伊犁州汉族与其他少数民族育龄期女性的基因频率比较,差异有统计学意义(P<0.05).结论 伊犁州育龄期女性MTHFR C677T基因的多态性分布具有地域特性,约七成的育龄期女性基因型为CT型及TT型,存在叶酸代谢异常的潜在威胁.

Objective To investigate the distribution of methylenetetrahydrofolate reductase(MTH-FR)C677T gene polymorphisms and its regional genetic characteristics among the women of childbearing age in Yili Kazak Autonomous Prefecture of Xinjiang(Yili Prefecture),and to compare the differences in the gene frequencies between Han nationality and other ethnic minorities in order to provide the genetic references for rationally guiding folic acid supplementation in the women of childbearing age.Methods A total of 624 women of childbearing age who went to this hospital for pre-pregnancy and pregnancy check-ups from August 2023 to November 2024 were selected as the study subjects.The polymorphisms at MTHFR C677T gene locus conducted the precise determination by the real-time fluorescence quantitative PCR.The genotypes and allele frequencies conducted the statistics and comparative analysis with the data of the other regions.Results Among 624 women of childbearing age,the CC,CT and TT genotypes frequencies in MTHFR C677T gene polymorphisms were 33.8%,45.4%and 20.8%respectively,the alleles C and T were 56.5%and 43.5%,respectively,and the differences in the gene frequencies of women of childbearing age between Han Chinese and those of other ethnic minorities in Yili Prefecture were statistically significant(P<0.05).Conclusion The distribution of MTHFR C677T gene polymorphisms among the women of childbearing age in Yili Prefecture has the territory speciality.About 70%of women of childbearing age are the CT and TT genotypes.There is the potential threat of folic acid metabolic abnormality.

李浩然;田海鸿;迪丽娜孜·艾尔肯;吕春芳

伊犁哈萨克自治州妇幼保健院遗传实验室,新疆 伊犁 835000伊犁哈萨克自治州妇幼保健院遗传实验室,新疆 伊犁 835000伊犁哈萨克自治州妇幼保健院遗传实验室,新疆 伊犁 835000伊犁哈萨克自治州妇幼保健院遗传实验室,新疆 伊犁 835000

医药卫生

亚甲基四氢叶酸还原酶基因遗传变异C677T位点叶酸代谢

methylenetetrahydrofolate reductase genegenetic variationC677T locusfolate metabo-lism

《重庆医学》 2026 (1)

141-144,149,5

伊犁哈萨克自治州科技计划项目(YJC2023A38).

10.3969/j.issn.1671-8348.2026.01.024

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