广西健康育龄妇女亚甲基四氢叶酸还原酶基因多态性与妊娠结局的关系

Association between the gene polymorphism of methylenetetrahydrofolate reductase and pregnant outcomes in Guangxi healthy women of reproductive age

目的:了解广西健康人群的亚甲基四氢叶酸还原酶C677T位点基因多态性分布情况及其与妊娠结局的关系。方法:选择2003-03/05在广西柳州市妇幼保健院采集200名早孕妇女静脉血3mL,提取全血DNA,聚合酶链反应扩增目的基因片段,用限制性内切酶酶切6～8h后通过聚丙烯酰胺凝胶电泳检测其亚甲基四氢叶酸还原酶C677T位点突变情况;追踪孕妇的妊娠结局,分析结局与突变的联系。结果:所调查200名健康孕妇的血样全部进入结果分析。①亚甲基四氢叶酸还原酶C677T位点多态性检测结果为野生基因型59.5%(119/200),杂合突变型34.0%(68/200),纯合突变型6.5%(13/200)。②3种基因型对应的围产儿平均出生体质量和新生儿评分异常率:野生基因型的平均出生体质量为(3281.1±448.8)g,新生儿评分异常率为2.5%(3/119);杂合突变型分别为(3250.5±519.4)g和4.4%(3/68);纯合突变型分别为(3050.2±662.3)g和7.6%(1/13)。结论:亚甲基四氢叶酸还原酶C677T位点基因多态性分布以野生基因型为主,其次为杂合突变型和纯合突变型。3种基因型对应的围产儿平均出生体质量和新生儿评分异常率均稍有不同,但无明显区别。

AIM：To investigate the gene polymorphism distribution of methylenetetrahydrofolate reductase at C667T site in healthy people of Guangxi, and analyze its association with pregnant outcomes. METHODS： Venous blood （3 mL） was drawn from 200 early pregnant women in the Liuzhou Hospital of Women and Children＇s Health Care between March and May 2003, the whole blood DNA was extracted, objective gene segment was amplified with polymerase chain reaction, and the mutation of methylenetetrahydrofolate reductase at C667T site was detected with polyacrylamidedel electrophoresis after treatment of restriction enzyme for 6 to 8 hours. The pregnant outcomes of the pregnant women were traced, and the association between the outcomes andmutation was analyzed. RESULTS：The blood samples of all the 200 healthy pregnant women were involved in the analysis of results. ① The detected results of the polymorphism of methylenetetrahydrofolate reductase at C667T site was that 59.5% （119/200） were wild genotype, 34.0% （68/200） were heterozygous mutant and 6.5% （13/200） were homozygous mutant. ② The average body mass at birth and abnormal rate of neonatal score in the perinatal infants of the 3 genotypes： The average body mass at birth and abnormal rate of neonatal score were （3 281.1±448.8） g and 2.5% （3/119） in the perinatal infants of wild genotype, （3 250.5±519.4） g and 4.4% （3/68） in those of heterozygous mutant, and （3 050.2±662.3） g and 7.6% （1/13） in those of homozygous mutant. CONCLUSION：The gene polymorphism distribution of methylenetetrahydrofolate reductase at C667T site is mainly of wild genotype, and followed by heterozygous mutant and homozygous mutant. There are unobvious differences in the average body mass at birth and the abnormal rate of neonatal score among the perinatal infants of the 3 genotypes.