临沂地区汉族女性MTHFR和MTRR基因多态性分布研究

目的探索山东省临沂市汉族女性亚甲基四氢叶酸还原酶（MTHFR）C677T、A1298C及甲硫氨酸合成酶还原酶（MTRR）A66G基因多态性的分布特征。方法采用横断面调查研究方法，以临沂市1403例汉族女性为研究对象，采集口腔黏膜上皮细胞，提取基因组DNA，采用Taqman—MGB技术，进行MTHFR和MTRR基因多态性检测。统计分析本地区基因多态性的分布特征，并与已报道地区进行比较。结果临沂市汉族女性的MTHFR677TT纯合突变基因型频率为32．90％，高于广东省、海南省、江苏省镇江市及山东省淄博市，差异有统计学意义（P〈0．01）。MTHFR1298CC纯合突变基因型频率为2．3％，低于广东省、海南省和江苏省，差异有统计学意义（P〈0．01）。MTRR66GG纯合突变基因型频率为5．9％，低于广东省和海南省，差异有统计学意义（P〈0．05）。结论临沂市汉族女性MTHFR和MTRR基因多态性分布具有地域特异性，MTHFRC677T位点突变率较高，通过检测MTHFR基因多态性来指导叶酸个体化增补是进一步降低当地出生缺陷的重要方法。

THE DISTRIBUTION FEATURES OF GENE POLYMORPHISMS OF MTHFR AND MTRR IN HAN FEMALES FROM LINYI CITY

Objective To explore the distribution features of gene polymorphism of Methylenetetrahydro- folate reductase （MTHFR）C677T and A1298C and methionine synthetase reductase （MTRR）A66G in Han females from Linyi City. Methods A cross-sectional study was conducted to survey 1403 Han females from Linyi City by collecting oral mucosal epithelial cells to extract genomic DNA and then to perform MTHFR and MTRR gene polymorphism examinations with a Taqman-Minor Groove Binder method. The distribution features of genetic polymorphisms was analyzed and compared with the results from other re- ports on different areas. Results The MTHFR 677TT homozygotic mutation genotypic frequency in Han fe- males from Linyi City was 32.90% ,which was higher than that in Guangdong Province, Hainan Province, Zhenjiang city in Zhejiang Province and Zibo City in Shandong province（ P 〈0.01）. The MTHFR 1298CC homozygotic mutation genotypic frequency in was 2.3 %, ,which was lower than that in Guangdong Province, Hainan Province and Jiangsu Province （P 〈 0. 01）. The MTHFR MTRR 66CC homozygotic mutation genotypie frequency wasS. 9%, which was lower than that in Guangdong Province and Hainan Province（ P 〈0. 05）. Conclusion The distribution of MTHFE and MTRR polymorphisms in Han females from Linyi City have regional specificity and the MTHFR 677TT homozygotic mutation genotypic frequency was high. De termination of MTHFR gene polymorphism can be used to guide the individualized acidum folicum supple menting to reduce birth defect.