新疆阿克苏地区汉族和维吾尔族女性5,10-亚甲基四氢叶酸还原酶、甲硫氨酸合成酶还原酶基因多态性分布研究
|
摘要
目的分析新疆阿克苏地区汉族和维吾尔族女性5,10-亚甲基四氢叶酸还原酶(MTHFR)、甲硫氨酸合成酶还原酶(MTRR)基因位点多态性分布特征,为基于遗传特征的临床干预研究和出生缺陷的病因学研究提供参考依据。方法以阿克苏地区223名育龄女性为研究对象,其中维吾尔族118人,汉族105人。分别通过Taqman-MGB技术检测其口颊黏膜细胞中的基因组DNA,对MTHFR和MTRR的多态性位点进行分析,统计出阿克苏地区女性两种基因多态性位点的频率分布特点,并与已报道的我国其他地区的数据进行对比分析,从而指导女性科学增补营养素叶酸,达到降低出生缺陷、优生优育的目的。结果阿克苏地区维吾尔族、汉族女性MTHFR C677T,A1298C和MTRR A66G基因型分布及等位基因频率分布,差异有统计学意义(P<0. 05);阿克苏地区维吾尔族女性MTHFR 677T基因型和等位基因频率分布与大理白族、延边朝鲜族、银川回族、张家界土家族、思南苗族、柳州壮族和三亚黎族女性比较,差异有统计学意义(P<0. 05),MTHFR 1298C基因型和等位基因频率分布与大理白族、延边朝鲜族、乌鲁木齐维吾尔族、银川回族、张家界土家族、思南苗族的女性比较,差异有统计学意义(P<0. 05); MTRR 66G的基因型和等位基因频率分布和大理白族、延边朝鲜族、银川回族、张家界土家族、思南苗族、柳州壮族、三亚黎族的女性比较,差异有统计学意义(P<0. 05)。结论新疆阿克苏地区汉族和维吾尔族女性的MTHFR、MTRR基因频率分布有自身特点。
Objective To analyze the distribution characteristics of 5,10-methylenetetrahydrofolate reductase( MTHFR) and methionine synthase reductase( MTRR) gene polymorphisms among Han women and Uyghur women in Aksu Prefecture of Xinjiang,provide a reference basis for clinical intervention study based on genetic characteristics and etiological study of birth defects. Methods A total of223 women of childbearing age were selected from Aksu region as study object,including 118 Uyghur women and 105 Han women. TaqmanMGB technique was used to detect genomic DNA in oral mucosal cells. The loci of MTHFR and MTRR gene polymorphisms were analyzed.The distribution characteristics of loci of MTHFR and MTRR gene polymorphisms among the women in Aksu region were calculated,then the results were compared with reported data in other areas to direct scientific supplementation of folic acid,reduce birth defects,and achieve eugenics. Results There were statistically significant differences in the frequencies of MTHFR C677 T,A1298 C and MTRR A66 G genotypes and alleles between Uyghur women and Han women in Aksu region( P< 0. 05). There were statistically significant differences in the frequencies of MTHFR 677 T genotypes and alleles between Uyghur women in Aksu region and Bai women in Dali,Korean women in Yanbian,Hui women in Yinchuan,Tujia women in Zhangjiajie,Miao women in Sinan,Zhuang women in Liuzhou,Li women in Sanya( P<0. 05).There were statistically significant differences in the frequencies of MTHFR 1298 C genotypes and alleles between Uyghur women in Aksu region and Bai women in Dali,Korean women in Yanbian,Uyghur women in Urumqi,Hui women in Yinchuan,Tujia women in Zhangjiajie,Miao women in Sinan( P<0. 05). There were statistically significant differences in the frequencies of MTRR 66 G genotypes and alleles between the women in Aksu and the women in Bai women in Dali,Korean women in Yanbian,Hui women in Yinchuan,Tujia women in Zhangjiajie,Miao women in Sinan,Zhuang women in Liuzhou,Li women in Sanya( P<0. 05). Conclusion The distributions of MTHFR and MTRR gene polymorphisms among Han women and Uyghur women in Aksu Prefecture of Xinjiang have regional specificity.
Objective To analyze the distribution characteristics of 5,10-methylenetetrahydrofolate reductase( MTHFR) and methionine synthase reductase( MTRR) gene polymorphisms among Han women and Uyghur women in Aksu Prefecture of Xinjiang,provide a reference basis for clinical intervention study based on genetic characteristics and etiological study of birth defects. Methods A total of223 women of childbearing age were selected from Aksu region as study object,including 118 Uyghur women and 105 Han women. TaqmanMGB technique was used to detect genomic DNA in oral mucosal cells. The loci of MTHFR and MTRR gene polymorphisms were analyzed.The distribution characteristics of loci of MTHFR and MTRR gene polymorphisms among the women in Aksu region were calculated,then the results were compared with reported data in other areas to direct scientific supplementation of folic acid,reduce birth defects,and achieve eugenics. Results There were statistically significant differences in the frequencies of MTHFR C677 T,A1298 C and MTRR A66 G genotypes and alleles between Uyghur women and Han women in Aksu region( P< 0. 05). There were statistically significant differences in the frequencies of MTHFR 677 T genotypes and alleles between Uyghur women in Aksu region and Bai women in Dali,Korean women in Yanbian,Hui women in Yinchuan,Tujia women in Zhangjiajie,Miao women in Sinan,Zhuang women in Liuzhou,Li women in Sanya( P<0. 05).There were statistically significant differences in the frequencies of MTHFR 1298 C genotypes and alleles between Uyghur women in Aksu region and Bai women in Dali,Korean women in Yanbian,Uyghur women in Urumqi,Hui women in Yinchuan,Tujia women in Zhangjiajie,Miao women in Sinan( P<0. 05). There were statistically significant differences in the frequencies of MTRR 66 G genotypes and alleles between the women in Aksu and the women in Bai women in Dali,Korean women in Yanbian,Hui women in Yinchuan,Tujia women in Zhangjiajie,Miao women in Sinan,Zhuang women in Liuzhou,Li women in Sanya( P<0. 05). Conclusion The distributions of MTHFR and MTRR gene polymorphisms among Han women and Uyghur women in Aksu Prefecture of Xinjiang have regional specificity.
引文
[1]卫生部.卫生部发布《中国出生缺陷防治报告(2012)》[J].中国药房,2012,39(22):3693.
[2]王小丽,陈永慧,阿依古丽·买买提明,等.新疆妇幼卫生系统出生缺陷监测与防治现状[J].新疆医学,2013,20(8):25-28.
[3]杜梅,余云志,鲁衍强,等.大理白族自治州汉族和白族女性5,10-亚甲基四氢叶酸还原酶、甲硫氨酸合成酶还原酶基因多态性研究[J].中国妇幼保健,2017,32(9):1947-1950.
[4]于延辉,鲁衍强,李瑛,等.延边朝鲜族自治州汉族女性和朝鲜族女性MTHFR与MTRR基因多态性分布研究[J].实用医学杂志,2014,30(5月增刊):7-9.
[5]郝友瑛,赵红,鲁衍强,等.新疆维吾尔族和汉族女性MTHFR和MTRR基因单核苷酸多态性比较[J].中国妇幼保健,2014,29(21):3495-3497.
[6]杨玉清,唐菊香,鲁衍强,等.银川市回族和汉族女性MTHFR和MTRR基因单核苷酸多态性分析[J].中国妇幼保健,2015,35(30):6267-6269.
[7]符春翠,鲁衍强,李瑛,等.张家界市土家族与汉族女性MTH-FR、MTRR基因型和等位基因频率分布研究及与其他地区比较[J].中国妇幼保健,2016,9(31):1898-1901.
[8]毛万成,鲁衍强,薛琰,等.贵州思南县汉族与苗族、土家族女性MTHFR、MTRR基因多态性研究[J].中国计划生育学杂志,2015,23(5):310-313.
[9]邱萍,鲁衍强,付敏,等.柳州市壮族与汉族女性5,10-亚甲基四氢叶酸还原酶、甲硫氨酸合成酶还原酶基因型和等位基因频率的分布[J].生殖与避孕,2016,36(7):569-575.
[10]谭蓝,鲁衍强,李瑛,等.三亚市汉族和黎族女性MTHFR与MTRR基因多态性研究[J].广东医学,2014,35(5月增刊):164-166.
[11]Waskiewicz A,Piotrowski W,Broda G,et al.Impact of MTHFRC677T gene polymorphism and vitamins intake on homocysteine concentration in the Polish adult population[J].Kardiol Pol,2011,69(12):1259-1264.
[12]Weisberg I,Tran P,Christensen B,et al.A second genetic polymorphism in methylenetetrahydrofolate reductase(MTHFR)associated with decreased enzyme activity[J].Mol Genet Metab,1998,64(3):169-172.
[13]Wilcken B.Geographical and ethnic variation of the 677C>T allele of 5,10methylenetetrahydrofolate reductase(MTHFR):findings from over 7000 newborns from 16.areas world wide[J].J Med Genet,2003,40(8):619-625.
[14]Wang Y,Liu Y,Ji W,et al.Analysis of MTR and MTRR polymorphisms for neural tube defects risk association[J].Medicine(Baltimore),2015,94(35):e1367.
[15]Ouyang S,Li Y,Liu Z,et al.Association between MTR A2756Gand MTRR A66G polymorphisms and maternal risk for neural tube defects:a meta-analysis[J].Gene,2013,515(2):308-312.
[16]Brattstr9m L,Israelsson B,Narrving B,et al.Impaired homocysteine metabolism in early-onset cerebral and peripheral occlusive arterial disease.Effects of pyridoxine and folic acid treatment[J].Atherosclerosis,1990,81(1):51-60.
[17]Jourdheuil-Rahmani D,Rolland p H,Rosset E,et al.Homocyst eineinduces synthesis of a serine elastase in arterial smooth muscle cells from multi-organ donors[J].Cardiovasc Res,1997,34(3):3597-3602.
[18]陈新.中美合作-新的科研成果证实叶酸可以减少85%的神经管理畸形[J].中国优生优育,2000,10(1):31-34.
[2]王小丽,陈永慧,阿依古丽·买买提明,等.新疆妇幼卫生系统出生缺陷监测与防治现状[J].新疆医学,2013,20(8):25-28.
[3]杜梅,余云志,鲁衍强,等.大理白族自治州汉族和白族女性5,10-亚甲基四氢叶酸还原酶、甲硫氨酸合成酶还原酶基因多态性研究[J].中国妇幼保健,2017,32(9):1947-1950.
[4]于延辉,鲁衍强,李瑛,等.延边朝鲜族自治州汉族女性和朝鲜族女性MTHFR与MTRR基因多态性分布研究[J].实用医学杂志,2014,30(5月增刊):7-9.
[5]郝友瑛,赵红,鲁衍强,等.新疆维吾尔族和汉族女性MTHFR和MTRR基因单核苷酸多态性比较[J].中国妇幼保健,2014,29(21):3495-3497.
[6]杨玉清,唐菊香,鲁衍强,等.银川市回族和汉族女性MTHFR和MTRR基因单核苷酸多态性分析[J].中国妇幼保健,2015,35(30):6267-6269.
[7]符春翠,鲁衍强,李瑛,等.张家界市土家族与汉族女性MTH-FR、MTRR基因型和等位基因频率分布研究及与其他地区比较[J].中国妇幼保健,2016,9(31):1898-1901.
[8]毛万成,鲁衍强,薛琰,等.贵州思南县汉族与苗族、土家族女性MTHFR、MTRR基因多态性研究[J].中国计划生育学杂志,2015,23(5):310-313.
[9]邱萍,鲁衍强,付敏,等.柳州市壮族与汉族女性5,10-亚甲基四氢叶酸还原酶、甲硫氨酸合成酶还原酶基因型和等位基因频率的分布[J].生殖与避孕,2016,36(7):569-575.
[10]谭蓝,鲁衍强,李瑛,等.三亚市汉族和黎族女性MTHFR与MTRR基因多态性研究[J].广东医学,2014,35(5月增刊):164-166.
[11]Waskiewicz A,Piotrowski W,Broda G,et al.Impact of MTHFRC677T gene polymorphism and vitamins intake on homocysteine concentration in the Polish adult population[J].Kardiol Pol,2011,69(12):1259-1264.
[12]Weisberg I,Tran P,Christensen B,et al.A second genetic polymorphism in methylenetetrahydrofolate reductase(MTHFR)associated with decreased enzyme activity[J].Mol Genet Metab,1998,64(3):169-172.
[13]Wilcken B.Geographical and ethnic variation of the 677C>T allele of 5,10methylenetetrahydrofolate reductase(MTHFR):findings from over 7000 newborns from 16.areas world wide[J].J Med Genet,2003,40(8):619-625.
[14]Wang Y,Liu Y,Ji W,et al.Analysis of MTR and MTRR polymorphisms for neural tube defects risk association[J].Medicine(Baltimore),2015,94(35):e1367.
[15]Ouyang S,Li Y,Liu Z,et al.Association between MTR A2756Gand MTRR A66G polymorphisms and maternal risk for neural tube defects:a meta-analysis[J].Gene,2013,515(2):308-312.
[16]Brattstr9m L,Israelsson B,Narrving B,et al.Impaired homocysteine metabolism in early-onset cerebral and peripheral occlusive arterial disease.Effects of pyridoxine and folic acid treatment[J].Atherosclerosis,1990,81(1):51-60.
[17]Jourdheuil-Rahmani D,Rolland p H,Rosset E,et al.Homocyst eineinduces synthesis of a serine elastase in arterial smooth muscle cells from multi-organ donors[J].Cardiovasc Res,1997,34(3):3597-3602.
[18]陈新.中美合作-新的科研成果证实叶酸可以减少85%的神经管理畸形[J].中国优生优育,2000,10(1):31-34.