雅安市汉族女性叶酸代谢通路关键酶基因MTHFR、MTRR的SNPs分布研究及与其他地区汉族女性的比较

Distribution of single nucleotide polymorphisms of folic acid metabolism pathway key enzymes MTHFR and MTRR genes in Han women in Ya'an city and comparison with Han women in other areas

目的研究雅安市汉族女性中5，10-亚甲基四氢叶酸还原酶（MTHFR）及甲硫氨酸合成酶还原酶（MTRR）基因的单核苷酸多态性（single nucleotide polymorphisms，SNPs）分布特征。方法通过横断面调查研究方法，选取2014年5月-2015年11月在四川省雅安市妇幼保健院检查及孕期产检的汉族育龄期女性694例为研究对象，采用荧光定量PCR技术，检测其叶酸代谢过程中编码关键酶的基因MTHFRC677T、A1298C和MTRRA66G的位点多态性，分析该地区SNPs的分布特征，并与其他16个地区汉族育龄期女性进行比较。结果该地区汉族女性MTHFR677T基因型频率与眉山、九江、荆州和昆明相比差异无统计学意义（x^2=1．55、5．01、1．14、0．68；P均〉0．05），该地区汉族女性MTHFR1298C基因型频率与淄博、廊坊、尚志、延边、琼海、郑州比差异有统计学意义（x^2=44．69、25．29、13．23、6．80、7．21、6．80；P均〈0．05），该地区汉族女性MTRRA66G基因型频率与淄博和琼海相比差异有统计学意义（x^2=9．39、5．11；P均〈0．05）。结论雅安市汉族女性MTRR及MTHFR基因的多态性频度分布具有地区特异性。

Objective To research the distribution characteristics of single nucleotide polymorphisms （SNPs） of methylenetetrahydrofo- late reductase （MTHFR） and methionine synthase （MTRR） in Ham women in Ya＇an city. Methods A cross-sectional study was conducted, 694 Ham women of childbearing age receiving prenatal and perinatal examination in the hospital from May 2014 to November 2015 were selected, fluorescence quantitative PCR was used to detect SNPs of MTHFR C677T, A1298C and MTRR A66G encoding key enzymes in the course of folic acid metabolism, the distribution characteristics of SNPs in the area were analyzed, then the results were compared with those of Ham women of childbearing age in other 16 areas. Results There was no statistically significant difference in the frequency of MTHFR 677T genotype between Ham women in Ya＇an city and Ham women in Meishan, Jiujiang, Jingzhou, Kunming （x^2= 1.55, 5.01, 1.14, 0. 68, P〉0. 05） . There were statistically significant differences in the frequency of MTHFR 1298C genotype between Ham women in Ya＇an city and Ham women in Zibo, Langfang, Shangzhi, Yambian, Qionghai, Zhengzhou （x^2 = 44. 69, 25.29, 13.23, 6. 80, 7.21, 6. 80, P〈 0. 05 ） . There were statistically significant differences in the frequency of MTRR A66G genotype between Ham women in Ya＇an city and Ham women in Zibo, Qionghai （x^2 = 9. 39, 5. 11, P〈0. 05 ） . Conclusion The distribution of SNPs of MTHFR and MTRR genes among Han women in Ya＇an city has regional specificity.