摘要
目的 通过对鄂尔多斯地区妊娠早期女性MTHFR C677T基因多态性与同型半胱氨酸进行分析,明确MTHFR C677T基因多态性分布特点及二者之间的相关性,为科学指导妊娠期叶酸补充及预防出生缺陷提供遗传学依据。方法 选取2022年9月至2023年9月在鄂尔多斯市中心医院妇科门诊建档并进行妊娠早期检查的602例汉族妊娠早期女性作为研究对象,所有患者采集血液标本,采用PCR芯片杂交法检测MTHFR C677T基因多态性、生化酶循环法检测同型半胱氨酸水平,统计分析MTHFR C677T位点基因型与等位基因频率及与同型半胱氨酸的关系。结果 MTHFR C677T基因多态性CC、CT和TT型的检出频率分别为23.6%、47.5%、28.9%,等位基因C、T的检出频率分别为47.3%和52.7%,与上海、温州、眉山、南宁等地区汉族女性相比差异均有统计学意义(P<0.05),但与西安地区汉族女性相比差异均无统计学意义(P>0.05)。TT基因型孕妇血清同型半胱氨酸水平均高于CC和CT基因型孕妇,CT基因型孕妇血清同型半胱氨酸水平高于CC基因型孕妇(P<0.05)。MTHFR C677 T位点CT和TT基因型均为该地区妊娠早期女性发生高同型半胱氨酸血症的危险因素,分别为CC基因型的2.80倍和8.07倍,且差异均有统计学意义(P<0.05)。结论 鄂尔多斯汉族妊娠早期女性MTHFR C677T基因多态性分布具有地区特点,且与同型半胱氨酸水平有一定联系,妊娠期根据不同基因型制订个性化的叶酸补充方案对于预防出生缺陷具有重要意义。
Objective To analyze the MTHFR C677T gene polymorphism and homocysteine in women in early pregnancy in Ordos region,to clarify the distribution characteristics of MTHFR C677T gene polymorphism and the correlation between the two,and to provide genetic basis for scientific guidance on folic acid supplementation during pregnancy and prevention of birth defects.Methods A total of 602 Han women in early pregnancy who were registered and underwent early pregnancy examinations in the gynecology clinic of Ordos Central Hospital from September 2022 to September 2023 were selected as the research subjects.Blood samples were collected from all research objects.MTHFR C677T gene polymorphism was detected by using PCR chip hybridization,and homocysteine level was detected by biochemical enzyme circulation method.Statistical analysis of MTHFR C677T locus genotype and allele frequency,as well as their correlation with homocysteine was conducted.Results The detection frequencies of MTHFR C677T gene polymorphism CC,CT,and TT types were 23.6%,47.5%,and 28.9%,respectively.The detection frequencies of alleles C and T were 47.3%and 52.7%,respectively.There were statistically significant differences compared to Han women in Shanghai,Wenzhou,Meishan,Nanning,and other regions(P<0.05),but there was no statistically significant difference compared to Han women in Xi′an(P>0.05).The serum homocysteine level of pregnant women with TT genotype was higher than that of pregnant women with CC and CT genotypes,while the serum homocysteine level of pregnant women with CT genotype was higher than that of pregnant women with CC genotype(P<0.05).The CT and TT genotypes of MTHFR C677T were both risk factors for hyperhomocysteinemia in women in early pregnancy in this region,the risk was 2.80 and 8.07 times higher than that of the CC genotype,respectively,and the differences were statistically significant(P<0.05).Conclusion The distribution of MTHFR C677T gene polymorphism Han women in early pregnancy in Ordos region has regional characteristics and is correlated with homocysteine level.Developing personalized folic acid supplementation plans based on different genotypes during pregnancy is of great significance for preventing birth defects.
作者
牛瑞兵
郭利平
段宝生
郑华
魏建平
秦莉
NIU Ruibing;GUO Liping;DUAN Baosheng;ZHENG Hua;WEI Jianping;QIN Li(Department of Clinical Laboratory,Ordos Central Hospital,Ordos,Inner Mongolia 017000,China;Department of Dermatology,Ordos Central Hospital,Ordos,Inner Mongolia 017000,China;Department of Obstetrics and Gynecology,Ordos Central Hospital,Ordos,Inner Mongolia 017000,China)
出处
《国际检验医学杂志》
CAS
2024年第13期1575-1579,共5页
International Journal of Laboratory Medicine
基金
内蒙古自治区自然科学基金项目(2023QN08035)。
