三亚市汉族和黎族女性MTHFR与MTRR基因多态性分布特征
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摘要
目的分析三亚市汉族和黎族女性5,10-亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTHFR)与甲硫氨酸合成酶还原酶(methionine synthase reductase,MTRR)基因单核苷酸多态性(single nucleotide polymorphisms,SNP)分布特征,为个体化指导女性增补叶酸及预防出生缺陷提供依据。方法以三亚市420例黎族女性及1 590例汉族女性为研究对象,采集其口腔黏膜上皮细胞,提取基因组DNA,采用荧光定量PCR方法对MTHFR C677T、A1298C和MTRR A66G基因位点多态性进行检测分析,并与其他已报道的民族进行比较。结果三亚市黎族女性MTHFR C677T位点基因多态性分布与思南苗族、延边朝鲜族、南宁壮族、乌苏哈萨克族、银川回族、新疆维吾尔族、张家界土家族相比均有显著性差异(P <0.05)。MTHFR A1298C位点基因多态性分布与三亚汉族、思南苗族、延边朝鲜族、银川回族、张家界土家族相比均有显著性差异(P <0.05)。MTRR A66G位点基因多态性分布与三亚汉族、思南苗族、延边朝鲜族、南宁壮族、银川回族、张家界土家族相比均有显著性差异(P <0.05)。结论三亚市黎族女性MTHFR和MTRR基因多态性分布不同于其他民族,具有民族特异性。
[ABSTRUCT] Objective To analyze the distribution characteristics of single nucleotide polymorphism(SNP)of MTHFR and MTRR gene among Han and Li women in Sanya city. To provide individualized guidance for women to supplement folic acid and prevent birth defects. Methods A total of420 Li women and 1 590 Han women were enrolled from Sanya city. Oral epithelial cells were collected to extract genome DNA,fluorogenic quantitative PCR technology was used to detect MTHFR and MTRR gene polymorphisms,and then compared with those of other nationalities in China. Results MTHFR C677 T gene polymorphism distribution of Li women in Sanya was significant different from Miao women in Sinan,Korean women in Yanbian,Zhuang women in Nanning,Kazak women in Wusu,Hui women in Yinchuan,Uygur women in Xinjiang,Tujia women in Zhangjiajie(P<0.05). MTHFR A1298 C gene polymorphism distribution of Li women in Sanya was significant different from Han women in Sanya,Miao women in Sinan,Korean women in Yanbian,Hui women in Yinchuan,Tujia women in Zhangjiajie(P<0.05). MTHFR A66 G gene polymorphism distribution of Li women in Sanya was significant different from Han women in Sanya,Miao women in Sinan,Korean women in Yanbian,Zhuang women in Nanning,Hui women in Yinchuan,Tujia women in Zhangjiajie(P<0.05). Conclusion The MTHFR,MTRR polymorphism of Li women in Sanya city is ethnically specific.
[ABSTRUCT] Objective To analyze the distribution characteristics of single nucleotide polymorphism(SNP)of MTHFR and MTRR gene among Han and Li women in Sanya city. To provide individualized guidance for women to supplement folic acid and prevent birth defects. Methods A total of420 Li women and 1 590 Han women were enrolled from Sanya city. Oral epithelial cells were collected to extract genome DNA,fluorogenic quantitative PCR technology was used to detect MTHFR and MTRR gene polymorphisms,and then compared with those of other nationalities in China. Results MTHFR C677 T gene polymorphism distribution of Li women in Sanya was significant different from Miao women in Sinan,Korean women in Yanbian,Zhuang women in Nanning,Kazak women in Wusu,Hui women in Yinchuan,Uygur women in Xinjiang,Tujia women in Zhangjiajie(P<0.05). MTHFR A1298 C gene polymorphism distribution of Li women in Sanya was significant different from Han women in Sanya,Miao women in Sinan,Korean women in Yanbian,Hui women in Yinchuan,Tujia women in Zhangjiajie(P<0.05). MTHFR A66 G gene polymorphism distribution of Li women in Sanya was significant different from Han women in Sanya,Miao women in Sinan,Korean women in Yanbian,Zhuang women in Nanning,Hui women in Yinchuan,Tujia women in Zhangjiajie(P<0.05). Conclusion The MTHFR,MTRR polymorphism of Li women in Sanya city is ethnically specific.
引文
[1]贺先民,张群,杨琦,等.亚甲基四氢叶酸还原酶和甲硫氨酸合成酶还原酶基因多态性研究[J].中国计划生育学杂志,2010,18(1):13-18.
[2]Rozen R.Genetic predisposition to hyperhomocysteinemia:deficiency of methylenetetrahydro folate reductase(MTHFR)[J].Thrombosis and Haemostasis,1997,78(1):523-526.
[3]Chen P,Poddar R,Tipa E V,et al.Homocysteine metabolism in cardiovascular cells and tissues:implications for hyperhomocysteinemia and cardiovascular disease[J].Advances in enzyme regulation,1999,39(1):93-109.
[4]Scholl TO,Johnson WG.Folic acid:influence on the outcome of pregnancy[J].Am J Clin Nutr,2000,71:1295-1303.
[5]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.
[6]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7-9.刊):7-9.32
[7]蒋武,鲁衍强,李瑛,等.南宁市壮族和汉族女性MTHFR和MTRR基因单核苷酸多态性比较[J].广西医学,2014,36(11):1517-1519.
[8]孙玉萍,鲁衍强,付敏,等.乌苏市哈萨克族与回族女性5,10-亚甲基四氢叶酸还原酶、甲硫氨酸合成酶还原酶单核苷酸多态性的分布特征调查[J].中国妇幼保健,2017,32(6):1273-1276.
[9]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,2015,30(35):6267-6269.
[10]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.
[11]符春翠,鲁衍强,李瑛,等.张家界市土家族与汉族女性MTHFR、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,2016,31(9):1898-1901.
[12]朱海燕,罗克娴.叶酸缺乏研究综述[J].中华临床医药,2003,4(7):59-60.
[13]云小云,欧凤荣.叶酸缺乏与出生缺陷相关性研究进展[J].实用药物与临床,2016,19(2):244-248.
[14]尹保民,杨小红,曾淑兰.叶酸代谢障碍与出生缺陷的关系探讨[J].中国优生与遗传杂志,2017,10:75-77.
[15]杜景云,杨新颖,龚波,等.血浆同型半胱氨酸和叶酸及MTHFR基因多态性与早产的相关性[J].中山大学学报(医学科学版),2013,34(6):894-899.
[16]朱兆霞,鲁衍强,薛琰,等.山东省诸城市汉族女性MTHFR、MTRR基因多态性研究[J].公共卫生与预防医学,2016,27(2):12-16.
[17]围受孕期增补叶酸预防神经管缺陷指南工作组.围受孕期增补叶酸预防神经管缺陷指南(2017)[J].中国生育健康杂志,2017,28(5):401-410.
[2]Rozen R.Genetic predisposition to hyperhomocysteinemia:deficiency of methylenetetrahydro folate reductase(MTHFR)[J].Thrombosis and Haemostasis,1997,78(1):523-526.
[3]Chen P,Poddar R,Tipa E V,et al.Homocysteine metabolism in cardiovascular cells and tissues:implications for hyperhomocysteinemia and cardiovascular disease[J].Advances in enzyme regulation,1999,39(1):93-109.
[4]Scholl TO,Johnson WG.Folic acid:influence on the outcome of pregnancy[J].Am J Clin Nutr,2000,71:1295-1303.
[5]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.
[6]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7-9.刊):7-9.32
[7]蒋武,鲁衍强,李瑛,等.南宁市壮族和汉族女性MTHFR和MTRR基因单核苷酸多态性比较[J].广西医学,2014,36(11):1517-1519.
[8]孙玉萍,鲁衍强,付敏,等.乌苏市哈萨克族与回族女性5,10-亚甲基四氢叶酸还原酶、甲硫氨酸合成酶还原酶单核苷酸多态性的分布特征调查[J].中国妇幼保健,2017,32(6):1273-1276.
[9]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,2015,30(35):6267-6269.
[10]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.
[11]符春翠,鲁衍强,李瑛,等.张家界市土家族与汉族女性MTHFR、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,2016,31(9):1898-1901.
[12]朱海燕,罗克娴.叶酸缺乏研究综述[J].中华临床医药,2003,4(7):59-60.
[13]云小云,欧凤荣.叶酸缺乏与出生缺陷相关性研究进展[J].实用药物与临床,2016,19(2):244-248.
[14]尹保民,杨小红,曾淑兰.叶酸代谢障碍与出生缺陷的关系探讨[J].中国优生与遗传杂志,2017,10:75-77.
[15]杜景云,杨新颖,龚波,等.血浆同型半胱氨酸和叶酸及MTHFR基因多态性与早产的相关性[J].中山大学学报(医学科学版),2013,34(6):894-899.
[16]朱兆霞,鲁衍强,薛琰,等.山东省诸城市汉族女性MTHFR、MTRR基因多态性研究[J].公共卫生与预防医学,2016,27(2):12-16.
[17]围受孕期增补叶酸预防神经管缺陷指南工作组.围受孕期增补叶酸预防神经管缺陷指南(2017)[J].中国生育健康杂志,2017,28(5):401-410.