佛山市汉族人群叶酸代谢通路关键酶基因MTHFR C677T多态性分布特征调查
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摘要
目的调查佛山市体检人群叶酸代谢障碍关键酶基因5,10-亚甲基四氢叶酸还原酶(MTHFR)C677T位点基因多态性分布情况。方法以佛山市182位女性和120位男性为研究对象,均为汉族人群,检测其MTHFR C677T基因位点多态性,分析性别、地域与基因多态性分布特征的关系。结果调查的302例佛山市汉族人群MTHFR C677T位点CC、CT、TT基因型所占比例分别为62. 6%、31. 8%、5. 6%,等位基因C、T所占比例分别为78. 5%、21. 5%。佛山市汉族男性与汉族女性MTHFR C677T位点多态性分布情况差异无统计学意义(P>0. 05)。佛山市汉族人群与已有数据报道的武汉、西安、长治、青岛、北京、乌鲁木齐等地的汉族人群的MTHFR C677T位点基因型、等位基因的分布情况差异均有统计学意义(P<0. 05)。佛山市汉族人群与回族、蒙族、维吾尔族、苗族MTHFR C677T位点基因型、等位基因的分布情况差异有统计学意义(P<0. 05),与布依族差异无统计学意义(P>0. 05)。结论佛山市汉族人群MTHFR C677T位点多态性分布情况与其他地区、其他民族有显著差异,在实施个性化日常保健措施时可将遗传因素纳入考虑。
Objective To investigate the distribution of single nucleotide polymorphisms( SNPs) of folic acid metabolism pathway key enzyme gene methylenetetrahydrofolate reductase( MTHFR) C677 T in the Han population in Foshan City. Methods We recruited 182 females and 120 males among the Han population in Foshan City to serve as the research subjects. Gene polymorphisms of MTHFR C677 T were detected,and their association with gender and region was analyzed. Results The proportions of MTHFR C677 T genotypes CC,CT and TT in 302 Han persons in Foshan City were 62.6%,31.8% and 5.6% respectively,and the proportions of alleles C and T were 78.5% and 21.5% respectively. No statistically significant difference was found in the distribution of MTHFR C677 T genotypes between males and females( P>0.05). The distribution of MTHFR C677 T genotypes and alleles in the Han persons in Foshan City was statistically different from the reported data of the Han population in Wuhan,Xi'an,Changzhi,Qingdao,Beijing and Urumqi( P<0.05) as well as that in Hui,Mongolian,Uygur and Miao nationalities( P<0.05),but was not statistically different from that in Buyi nationality( P>0.05). Conclusions The difference is statistically significant in the distribution of MTHFR C677 T gene polymorphisms in the Han persons in Foshan City as compared with that in other regions and nationalities. Genetic factors can be taken into account in the implementation of personalized routine health measures.
Objective To investigate the distribution of single nucleotide polymorphisms( SNPs) of folic acid metabolism pathway key enzyme gene methylenetetrahydrofolate reductase( MTHFR) C677 T in the Han population in Foshan City. Methods We recruited 182 females and 120 males among the Han population in Foshan City to serve as the research subjects. Gene polymorphisms of MTHFR C677 T were detected,and their association with gender and region was analyzed. Results The proportions of MTHFR C677 T genotypes CC,CT and TT in 302 Han persons in Foshan City were 62.6%,31.8% and 5.6% respectively,and the proportions of alleles C and T were 78.5% and 21.5% respectively. No statistically significant difference was found in the distribution of MTHFR C677 T genotypes between males and females( P>0.05). The distribution of MTHFR C677 T genotypes and alleles in the Han persons in Foshan City was statistically different from the reported data of the Han population in Wuhan,Xi'an,Changzhi,Qingdao,Beijing and Urumqi( P<0.05) as well as that in Hui,Mongolian,Uygur and Miao nationalities( P<0.05),but was not statistically different from that in Buyi nationality( P>0.05). Conclusions The difference is statistically significant in the distribution of MTHFR C677 T gene polymorphisms in the Han persons in Foshan City as compared with that in other regions and nationalities. Genetic factors can be taken into account in the implementation of personalized routine health measures.
引文
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[7]冯琳琳,张微,张浩,等.体检人群血清同型半胱氨酸水平与MTH-FRC677T基因型频率的调查[J].中国卫生检验杂志,2015,25(13):2225-2226.
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[9]孙文萍,万琪,苏明权.西安地区汉族亚甲基四氢叶酸还原酶的两种基因多态性[J].第四军医大学学报,2003,24(7):634-636.
[10]陈云霞,程红兵,武延隽,等.长治人群MTHFR C677T基因多态性分布与血浆Hcy水平[J].山西医科大学学报,2013,44(2):130-133.
[11]张成森,潘旭东,刘翠薇.中国青岛汉族人群亚甲基四氢叶酸还原酶基因多态性分布研究[J].齐鲁医学杂志,2005,20(4):310-312.
[12]戴晓婧,钟慧军,焦海燕,等.宁夏回、汉族人群5,10-亚甲基四氢叶酸还原酶C677T多态性研究[J].宁夏医学院学报,2008,30(2):152-154.
[13]裴丽君,朱慧萍,沈婉英,等.中国汉蒙两族人群MTHFR基因热敏感性多态性分布的比较[J].遗传,2000,22(6):369-371.
[14]昆得孜·杜肯,古丽,阿依帕丽·巴吾东,等. MTHFR基因单核苷酸多态性与新疆地区维吾尔族非综合征性唇腭裂的相关性研究[J].口腔医学研究,2015,31(11):1085-1088.
[15]张婷,谢渊,李毅,等.贵州3个民族亚甲基四氢叶酸还原酶基因的遗传多态性[J].重庆医学,2013,42(28):3413-3415.
[16]顾依群,王金玲,刘晓红,等.北京市某区胚胎停育环境危险因素初步研究[J].环境与职业医学,2008,25(4):346-350.
[17]魏海青,胡殿珍,郭燕.基因检测个体化补充叶酸防治早期流产的临床疗效观察[J].河北医学,2015,21(12):1998-1999.
[18]任玮,李艳,童永清,等.武汉地区353例体检者MTHFR C677T基因多态性分布[J].实用预防医学,2016,23(8):1007-1010.
[19]郝友瑛,鲁衍强,李瑛,等.乌鲁木齐市汉族人群叶酸代谢通路关键酶基因MTHFR、MTRR单核苷酸多态性分布特征调查[J].中国妇幼保健,2016,31(18):3772-3775.
[2]王苏梅.亚甲基四氢叶酸还原酶基因多态性及临床意义[J].国外医学:遗传学分册,2005,28(1):29-32.
[3]Berry RJ,Li Z,Erickson JD,et al. Prevention of neural-tube defectswith folic acid[J]. New Engl J Med,1999,341(11):1486-1490.
[4]黄晓玲,何艳君,鲁衍强,等.亚甲基四氢叶酸还原酶基因多态性与先兆流产相关性研究[J].赣南医学院学报,2015,35(1):41-43.
[5]左金玲,易建平,陈宝丽.妊娠血压综合征基因遗传学研究进展[J].中国妇幼保健,2011,26(24):3822-3824.
[6]邱晓峰,胡小平,李元杰,等.宁夏地区汉族MTHFR基因C677T多态性与男性无精和严重少弱精的相关性分析[J].宁夏医科大学学报,2011,33(7):625-627.
[7]冯琳琳,张微,张浩,等.体检人群血清同型半胱氨酸水平与MTH-FRC677T基因型频率的调查[J].中国卫生检验杂志,2015,25(13):2225-2226.
[8]蒋捷,王富乾,马浩然,等.武汉地区汉族人群MTHFR基因多态性的分布研究[J].中南药学,2017,15(1):57-60.
[9]孙文萍,万琪,苏明权.西安地区汉族亚甲基四氢叶酸还原酶的两种基因多态性[J].第四军医大学学报,2003,24(7):634-636.
[10]陈云霞,程红兵,武延隽,等.长治人群MTHFR C677T基因多态性分布与血浆Hcy水平[J].山西医科大学学报,2013,44(2):130-133.
[11]张成森,潘旭东,刘翠薇.中国青岛汉族人群亚甲基四氢叶酸还原酶基因多态性分布研究[J].齐鲁医学杂志,2005,20(4):310-312.
[12]戴晓婧,钟慧军,焦海燕,等.宁夏回、汉族人群5,10-亚甲基四氢叶酸还原酶C677T多态性研究[J].宁夏医学院学报,2008,30(2):152-154.
[13]裴丽君,朱慧萍,沈婉英,等.中国汉蒙两族人群MTHFR基因热敏感性多态性分布的比较[J].遗传,2000,22(6):369-371.
[14]昆得孜·杜肯,古丽,阿依帕丽·巴吾东,等. MTHFR基因单核苷酸多态性与新疆地区维吾尔族非综合征性唇腭裂的相关性研究[J].口腔医学研究,2015,31(11):1085-1088.
[15]张婷,谢渊,李毅,等.贵州3个民族亚甲基四氢叶酸还原酶基因的遗传多态性[J].重庆医学,2013,42(28):3413-3415.
[16]顾依群,王金玲,刘晓红,等.北京市某区胚胎停育环境危险因素初步研究[J].环境与职业医学,2008,25(4):346-350.
[17]魏海青,胡殿珍,郭燕.基因检测个体化补充叶酸防治早期流产的临床疗效观察[J].河北医学,2015,21(12):1998-1999.
[18]任玮,李艳,童永清,等.武汉地区353例体检者MTHFR C677T基因多态性分布[J].实用预防医学,2016,23(8):1007-1010.
[19]郝友瑛,鲁衍强,李瑛,等.乌鲁木齐市汉族人群叶酸代谢通路关键酶基因MTHFR、MTRR单核苷酸多态性分布特征调查[J].中国妇幼保健,2016,31(18):3772-3775.