陕西省汉族女性叶酸代谢相关酶基因多态性分布研究

Study on the Distribution of Gene Polymorphism of Folate Metabolism-Related Enzyme Gene among the Han Women in Shaanxi Province

目的分析陕西省汉族孕龄妇女亚甲基四氢叶酸还原酶（MTHFR）C677T，A1298C和甲硫氨酸合成酶还原酶（MTRR）A66G等叶酸代谢过程中相关酶基因多态性的分布特征。方法以陕西省1508例孕龄期汉族女性为对象，采用Taqman-MGB技术检测MTHFRc677T，A1298C和MTRRA66G基因型和等位基因频率，统计分析基因多态性的分布特征并与其它地区的数据进行比较。结果陕西省汉族女性的MTHFRC677T纯合和杂合突变基因型频率分别为22．6％和16．5％，突变等位基因频率为30．9％，MTHFRA1298C纯合和杂合突变基因型频率分别为3．6％和60．5％，突变等位基因频率为33．8％，与已报道的其它地区相比，差异均有统计学意义（P〈0．01）；MTRRA66G纯合突变基因型频率为6．1％，杂合突变基因型频率为39．5％，突变等位基因频率为25．9％，低于海南省（P〈0．01），与河南、山东和湖北省相比，差异无统计学意义（P〉0．05）。结论陕西省汉族女性的MTHFR基因多态性分布与已报道的其它地区存在差异；MTRR基因多态性分布与河南、山东和湖北省相同，但不同于海南省。

Objective To analyze the distribution characteristics of gene polymorphism of methylene tetrahydrofolate reduc tase（MTHFR） C677T, A1298C and methionine synthase reductase （MTRR） A66G of folate metabolism related enzyme gene among the gestational age Han women in Shaanxi province. Methods Collected 1 508 gestational age Han women from Shaanxi province as study objects,Taqman-MGB technique was used to detect genotype and allele frequency of MTHFR C677T,A1298C and MTRR A66G and analyze the distribution characteristics of gene polymorphism, then the results were compared with data reported in other areas in China. Results The frequency of MTHFR C677T genotype frequency homo- zygous and heterozygous mutation in Shaanxi Han women was 22.6% and 16.5%, and the mutant allele frequency was 30.9%. The frequency of MTHFR A1298C genotype frequency homozygous and heterozygous mutation was 3.6% and 60.5 % ,and the mutant allele frequency was 33.8 ~. The difference were statistically significant between those reported in other areas in China （P〈0.01）. The frequency of MTRR A66G homozygous mutation genotype frequency was 6.1 % het- erozygous mutation genotype frequency was 39.5 %, and the mutant allele frequency was 25.9 %, which was lower than that in Hainan province （P〈0.01）. Compared with the results in He＇nan province,Shandong province and Hubei province,there was no statistically significant difference （P〉0.05）. Conclusion The distribution characteristics of gene polymorphism of MTHFR in Han women in Shaanxi province were different from those reported in other areas in China. The distribution characteristics of gene polymorphism of MTRR were the same with He＇ nan province, Shandong province and Hubei prov- ince,but different from Hainan orovince.