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孟宏霞, 鲁衍强, 付敏, 杨琦. 江门地区育龄妇女叶酸代谢障碍相关基因遗传多态性的调查分析[J]. 中国妇幼卫生杂志, 2018, 9(3): 42-45.
引用本文: 孟宏霞, 鲁衍强, 付敏, 杨琦. 江门地区育龄妇女叶酸代谢障碍相关基因遗传多态性的调查分析[J]. 中国妇幼卫生杂志, 2018, 9(3): 42-45.
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MENG Hong Xia, LU Yan Qiang, FU Min, YANG Qi. Investigation and analysis of genetic polymorphisms of folate metabolism related genes in reproductive age women in Jiangmen[J]. CHINESE JOURNAL OF WOMEN AND CHILDREN HEALTH, 2018, 9(3): 42-45.
Citation: MENG Hong Xia, LU Yan Qiang, FU Min, YANG Qi. Investigation and analysis of genetic polymorphisms of folate metabolism related genes in reproductive age women in Jiangmen[J]. CHINESE JOURNAL OF WOMEN AND CHILDREN HEALTH, 2018, 9(3): 42-45.
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江门地区育龄妇女叶酸代谢障碍相关基因遗传多态性的调查分析

Investigation and analysis of genetic polymorphisms of folate metabolism related genes in reproductive age women in Jiangmen

    摘要
  • 摘要: 目的 调查广东省江门地区育龄妇女叶酸代谢障碍相关基因遗传多态性,为指导该地区育龄女性合理补充叶酸提供数据支持。方法 选取2016年10月2日-2017年9月19日来江门市妇幼保健院进行健康检查的育龄期女性636例,采集研究对象口腔黏膜上皮细胞,采用Taqman-MGB方法测定5,10-亚甲基四氢叶酸还原酶(MTHFR) C667T、A1298C位点和甲硫氨酸合酶还原酶(MTRR) A66G位点的基因型,对所得数据进行分析。结果 采集江门地区育龄期女性636例样本,统计全部样本中检测的MTHFR C667T位点中,其中野生型(CC)、杂合突变型(CT)及纯合突变型(TT)分别占60.69%、32.23%和7.08%,突变基因T的基因频率为23.19%;MTHFR A1298C位点中野生型(AA)、杂合突变型(AC)及纯合突变型(CC)分别为60.53%、32.55%和6.92%,突变基因C的基因频率为23.19%;MTRR A66G位点中野生型(AA)、杂合突变型(AG)及纯合突变型(GG)分别为54.09%、45.28%和10.06%,突变基因G的基因频率为32.70%。MTHFR C667T位点基因型分布与中国人群比较差异均有统计学意义(P=0.000),而MTHFR A1298C、MTRR A66G位点基因型分布与中国人群比较,差异无统计学意义(P=0.496,P=0.296)。江门地区育龄期妇女与中国人群MTHFR C667T等位基因频率分布比较,差异具有统计学意义(P=0.000),存在叶酸代谢障碍的育龄女性高达59.43%。结论 江门地区超过50%以上的育龄女性携带高风险基因,临床医生应基于叶酸代谢基因多态性检测,给予相应孕期叶酸补充指导,避免因叶酸代谢障碍导致叶酸补充不足从而导致不良妊娠结局,以及新生儿缺陷。

     

    Abstract: Objective To investigate the genetic polymorphisms of folate metabolism related genes in reproductive age women in Jiangmen and to provide data support for the guidance of reasonable folate supplementation for women of childbearing age in this area.Methods A total of 636 reproductive age women in our hospital were enrolled as the study subjects from October 2, 2016 to September 19, 2017. The oral mucosal epithelial cells of the study subjects were collected, and 5, 10-methylene was measured by the Taqman-MGB method. The genotypes of the tetrahydrofolate reductase (MTHFR) C667 T, A1298 C locus, and the methionine synthase reductase (MTRR) A66 G locus were analyzed.Results Among the MTHFR C667 T sites detected in all samples, wild-type (CC), heterozygous mutant (CT) and homozygous mutant (TT) accounted for 60.69%, 32.23% and 7.08%. The gene frequency of the mutant gene T was 23.19%. The wild type (AA), heterozygous mutant (AC) and homozygous mutant (CC) in the MTHFR A1298 C locus were 60.53%, 32.55% and 6.92, respectively. The gene frequency of the mutant gene C was 23.19%. The wild type (AA), heterozygous mutant (AG) and homozygous mutant (GG) in the MTRR A66 G locus were 54.09%, 45.28% and 10.06%, respectively. The gene frequency of the mutant gene G was 32.70%. The genotype distribution of MTHFR C667 T locus was significantly different from that of Chinese population (P=0.000), but there was no significant difference in the genotype distribution of MTHFR A1298 C and MTRR A66 G loci between the study subjects and the Chinese populations (P=0.496, P=0.296). There was a statistically significant difference in the frequency distribution of MTHFR C667 T allele between reproductive age women in Jiangmen area and Chinese population was (P=0.000). There was 59.43% of reproductive age women with folic acid metabolism disorder.Conclusion More than 50% of reproductive age women in Jiangmen area carry high-risk genes. The clinicians should provide folic acid supplementation guidance during pregnancy based on genetic polymorphism of folic acid metabolism in order to avoid adverse pregnancy outcomes caused by folate deficiency due to folate metabolism and newborn defect.

     

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