育龄女性叶酸代谢相关酶基因多态性分析

目的 对N⁵,N¹⁰-亚甲基四氢叶酸还原酶(MTHFR)的MTHFR C677T基因位点与胱硫醚β合酶(CBS)的CBS T833C、CBS G919A基因位点的基因多态性进行分析,了解其在山西省长治地区育龄女性人群中的分布情况。方法 采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术对MTHFR C677T进行基因多态性分析;采用扩增阻碍突变系统(ARMS)对CBS T833C、CBS G919A进行基因多态性分析。结果 长治地区育龄女性50人中MTHFR C677T基因为CC、CT和TT分别有6,24和20人;C、T等位基因出现的频率分别为36%和64%,纯合突变率为40%;CBS T833C基因为TT、TC和CC分别有6,26和18人;T、C等位基因出现的的频率分别为38%和62%,纯合突变率36%;CBS G919A基因为GG、GA和AA分别有8,30和12人;G、A等位基因出现的频率分别为46%和54%,纯合突变率为24%。结论 推测育龄女性人群MTHFR C677T与CBS T833C基因型分布与当地神经管畸形率较高的分布特点相一致。

Polymorphism of methylene-tetrahydrofolate reductase and cystathionine beta-synthase in child-bearing women

Objective To explore the geno type and allele frequency of methy lene-tetrahydrofolate reductase(MTHFR) and cysta thionine beta-synthase(CBS)in women at child-bearing age in Changzhi city.Methods The genotype of MTHFR C677T was analyzed by polymerase chain reaction-restriction fragment polymorphism(PCR-RFLP),and the geno type of CBST833C and CBSG919A was detected by amplification refractory mutation system(ARMS)for 50 blood spot DNA from normal women aged 25-35 years.Results The numbers of the women with CC,TC and TT geno type of MTHFR C677T were 6,24,and 20.The frequencies of T,C and CC among the women were 36%,64%,and 40%.The numbers of the women with TT,TC and CC geno type of CBST 833C were 6,26,and 18.The frequencies of T,C and CC among the women were 38%,62%,and 36%.The numbers of women with GG,GA and AA geno type of CBSG 919A were 8,30,and 12.The frequenies of T,C and CC among the women were 46%,54%,and 24%.Conclusion The distribution of MTHFR C677T and CB ST833C geno type seems to be consistent with the development of neural tube defects in Changzhi city.The study provides genetic epidemiological data for etiological hypothesis about CBS and disease relative to folate metabolism.