MTHFR基因A1298C多态性与胎儿出生缺陷的相关性  

Study on correlation between the MTHFR A1298C morphisms and fetal malformations

作　　者：肖立[1] 刘大艳[1] 王琨[1] 高洁[1] 

机构地区：[1]广东省深圳市妇幼保健院妇产科,广东深圳518028

出　　处：《中国医药导报》2012年第16期87-89,共3页China Medical Herald

基　　金：广东省深圳市科技计划项目(项目编号:201003105)

摘　　要：目的探讨羊水中5,10-亚甲基四氢叶酸还原酶(MTHFR)基因A1298C多态性与中国人群胎儿畸形发生的关系。方法抽取89例胎儿畸形孕妇(病例组)及80例无胎儿畸形孕妇(对照组)的羊水,提取胎儿游离DNA,应用聚酶链式反应-限制性片段长度多态性方法进行MTHFR基因A1298C多态性检测,同时采用循环酶法检测羊水中的同型半胱氨酸(Homocysteine,Hcy)浓度。采用χ2检验及t检验进行统计分析。结果病例组89例畸形胎儿中,纯合突变1例(1.1%),杂合突变40例(44.9%),野生基因型48例(54.0%)。对照组80例中,纯合突变1例(1.3%),杂合突变22例(27.5%),野生基因型57例(71.2%)。两组间比较,野生型及杂合突变差异有统计学意义(P<0.05)。病例组中等位基因(A、C)频率分别为76.4%、23.6%,对照组中分别为85%、15%,两组间A、C等位基因的出现频率均有明显差异,且病例组C等位基因出现频率明显高于对照组(χ2=3.96,P<0.05)。病例组羊水中Hcy浓度较对照组明显增高(P<0.05)。结论MTHFR基因A1298C位点多态性可能是胎儿畸形的遗传易感因素。羊水中Hcy的浓度升高可能是胎儿畸形的危险因素。Objective To explore the relationship between risks of fetal malformations and genetic polymorphisms in Methylenetetrahydrofolate reductase（MTHFR） A1298C,a central enzyme in folate metabolism that affects DNA methylation and synthesis.Methods Collected amniotic fluid from 89 cases of fetal malformation pregnant women（case group） and 80 cases without fetal malformations pregnant women（control group）.Extracted their free DNA,determined MTHFR genotypes by PCR-RFLP and examined homocysteine levels of amniotic fluid by cyclophorase.Analyzed data with chi-square distribution and Student＇s t test.Results In the case group,possibilities of MTHFR1298 AA（wild type,48 samples）,AC（heterozy gousmutant,40 samples）,CC（puremutant,1 sample） genotype were 54.0%,44.9%,1.1% respectively,comparing to 71.2%,27.5%,1.3% in the control group.The results showed obvious difference for genortype AA and AC（P 0.05）.Another difference was the frequency of A,C genotype（76.4%,23.6% in the case group versus 85%,15% in the control group）.Analysis results also showed a higher occurrence frequency of genotype C（P 0.05） and higher Hcy levels in amniotic fluid in the case group（P 0.05）.Conclusion Single nucleotide polymorphism in MTHFR gene is likely one of genetic susceptible factors for fetal malformations.Hcy concentrations in amniotic fluid may be the risk factors of fetal malformations.

关 键 词：5 10-亚甲基四氢叶酸还原酶 多态性 A1298C 出生缺陷 胎儿畸形 

分 类 号：R722[医药卫生—儿科]