云南个旧地区妊娠期妇女孕期叶酸代谢基因多态性分布  

Distribution of folate metabolism gene polymorphisms in women in pregnancy in Gejiu area of Yunnan province

作　　者：董慧 张国文 杨巧玲 张福莉 温翔 杨燕 DONG Hui;ZHANG Guowen;YANG Qiaoling;ZHANG Fuli;WEN Xiang;YANG Yan(Department of Pha Fifth Affiliated Hospital of Kunming Medical University/Gejiu people's Hospital,Gejiu 661000,China)

机构地区：[1]昆明医科大学第五附属医院/个旧市人民医院药剂科,个旧661000

出　　处：《中国临床药学杂志》2024年第2期94-99,共6页Chinese Journal of Clinical Pharmacy

基　　金：昆明医科大学第五附属医院/红河州滇南中心医院院级科研基金(编号2021YN23)。

摘　　要：目的调查云南省个旧地区妊娠期妇女亚甲基四氢叶酸还原酶(MTHFR)和蛋氨酸合成酶还原酶(MTRR)的基因多态性分布情况,为制定妊娠期妇女个体化叶酸补充方案提供科学依据。方法以2022年1至12月云南省个旧地区713例妊娠期妇女为研究对象,利用实时荧光定量PCR熔解曲线法检测MTHFR C677T和A1298C位点以及MTRR A66G位点的基因型并分析基因多态性分布特征,与已报道的其他地区中国人群基因型频率进行比较。根据基因型结果评估云南省个旧地区妊娠期妇女叶酸代谢能力风险。结果所有样本中MTHFR C677T位点,野生型(CC型)、杂合突变体(CT型)及纯合突变体(TT型)基因型频率分别为46.4%、41.1%和12.5%;MTHFR A1298C位点野生型(AA)、杂合突变体(AC)及纯合突变体(CC型)基因型频率分别为67.5%、28.8%和3.7%;MTRR A66G位点野生型(AA)、杂合突变体(AG)及纯合突变体(GG)基因型频率分别为54.7%、40.3%和5.0%。MTHFR C677T和A1298C位点以及MTRR A66G位点基因型分布与中国人群比较,差异有统计学意义(P<0.05)。结论云南省个旧地区妊娠期妇女MTHFR C677T和A1298C位点以及MTRR A66G位点基因多态性的分布具有地域特异性,41.21%的妊娠期妇女携带叶酸代谢能力中、高风险基因,叶酸代谢相关基因检测结果可为孕期叶酸增补方案的制定提供科学依据,有助于药师进行个体化精准用药指导,降低新生儿出生缺陷。AIM To investigate the distribution of gene polymorphisms of methylenetetrahydrofolate reductase(MTHFR)and methionine synthase reductase(MTRR)among women in pregnancy in Gejiu of Yunnan province,and provide the scientific basis for clinicians to guide individualized folate supplementation programs for women in pregnancy.METHODS 713 women of childbearing age in Gejiu area of Yunnan province from January to December 2022 were selected as the study subjects.The genotypes of MTHFR C677T,A1298C and MTRR A66G loci were detected by real-time quantitative PCR melting curve method.The distribution characteristics of gene polymorphism were analyzed,and the genotype frequency was compared with that of Chinese population in other regions.The risk of folate metabolism in women in pregnancy in Gejiu area of Yunnan province was evaluated according to the genotype results.RESULTS The frequencies of MTHFR C677T loci in all samples were 46.4%,41.1%and 12.5%,respectively,for wild-type(CC),heterozygous mutant(CT)and homozygous mutant(TT)genotypes.The genotype frequency of wild-type(AA),heterozygous mutant(AC)and homozygous mutant(CC)of MTHFR A1298C locus were 67.5%,28.8%and 3.7%respectively.The genotype frequency of MTRR A66G wild type(AA),hybrid mutant(AG)and homozygous mutant(GG)were 54.7%,40.3%and 5.0%,respectively.The genotype distribution of MTHFR C677T,A1298C,and MTRR A66G loci showed statistically significant differences compared to the Chinese population(P<0.05).CONCLUSION The distribution of MTHFR C677T,A1298C and MTRR A66G gene polymorphisms in women in pregnancy in Gejiu area of Yunnan province is regionally specific,with 41.21%of women in pregnancy carrying medium and high-risk genes related to folate metabolism.The results of folate metabolism genetic testing can provide a scientific basis for the folate supplementation program during pregnancy,which can help pharmacists provide individualized and precise drug guidance to reduce birth defects.

关 键 词：叶酸代谢 基因多态性 妊娠期 

分 类 号：R71[医药卫生—妇产科学]