摘要
目的分析湖北省黄冈市英山县汉族育龄女性叶酸代谢相关酶5,10-亚甲基四氢叶酸还原酶(MTHFR)和甲硫氨酸合成酶还原酶(MTRR)的基因多态性分布特征,以指导育龄女性增补叶酸和出生缺陷的一级预防。方法以英山县319例汉族女性为研究对象,提取口腔黏膜上皮细胞基因组DNA,通过荧光定量PCR法对MTHFR和MTRR的多态性位点进行分析,获得英山县妇女该基因的分布特征,并与已报道的其他地区的数据进行比较。结果英山县汉族女性MTHFR C677T基因型构成与淄博、济源、张家口、延边、乌鲁木齐、银川、眉山、南宁、琼海数据相比差异有统计学意义(x^2值为181.41~13.46,均P<0.05),与松滋、湘潭、惠州相比无统计学意义(x^2值为0.12~5.87,均P>0.05)。英山县汉族女性MTHFR A1298C基因型构成与淄博、济源、张家口、延边、银川、眉山、松滋、湘潭数据的差异均有统计学意义(x^2值为76.94~7.31,均P<0.05),与乌鲁木齐、惠州、南宁、琼海相比无统计学意义(x^2值为5.19~0.97,均P>0.05)。英山县汉族女性MTRR A66G的基因型构成与延边和琼海的差异有统计学意义(x^2值分别为6.10、17.10,均P<0.05),与淄博、济源、张家口、乌鲁木齐、银川、眉山、松滋、湘潭、惠州、南宁的差异均没有统计学意义(x^2值为0.95~5.48,均P>0.05)。结论英山县汉族女性MTHFR和MTRR基因多态性频率分布具有地域特异性。
Objective To explore the genotype distribution of 5,10-methylenetetrahydrofolate reductase （MTHFR） and methyhransferase reduetase （MTRR） involved in folic acid biosynthetic pathway among Chinese Han gestational age women in Yingshan City in Hubei Province, so as to guide folic acid supplement and primary prevention of birth defects. Methods Genomic DNA was obtained from the oral mucosa cells of 319 females in Han nationality in Yingshan City, and PCR method was used to analyze MTHFR and MTRR gene polymorphisms and obtain distribution of gene polymorphisms. They were compared with the reported data of other regions in China. Results The genotype distribution of MTHFR C677T among Yingshan women was significantly different to that among women in Zibo, Jiyuan, Zhangjiakou, Yanbian, Urumchi, Yinchuan, Meishan, Nanning and Qionghai （χ^2 value ranged 181.41 -13.46, respectively, all P 〈 0.05 ）, but it was not significantly different to that in Songzi, Xiangtan and Huizhou （X2 value ranged 0.12 - 5.87, respectively, all P 〉0.05）. The genotype distribution of MTHFR A1298C among Yingshan women was significantly different to that in Zibo, Jiyuan, Zhangjiakou, Yanbian, Yinchuan, Meishan, Songzi and Xiangtan （X2 value ranged 76.94 - 7.31, respectively, all P 〈 0.05）, but it was not significantly different to Urumchi, Huizhou, Nanning and Qionghai （χ^2 value ranged 5.19 - 0.97, respectively, all P 〉 0.05）. The genotype distribution of MTRR A66G among Yingshan women was significantly different to Yanbian and Qionghai （χ^2 value was 6.10 and 17.10, respectively, both P 〈 0.05）, while there was no significant difference to Zibo, Jiyuan, Zhangjiakou, Urumchi, Yinchuan, Meishan, Songzi, Xiangtan, Huizhou and Nanning （χ^2 value ranged 0.95 - 5.48, respectively, all P 〉 0. 05 ）. Conclusion The polymorphism frequency distribution of MTHFR and MTRR in Han women in Yingshan City is region specific.
出处
《中国妇幼健康研究》
2016年第2期252-255,共4页
Chinese Journal of Woman and Child Health Research
