谢正媛, 袁彦玲, 陈涓涓, 李根瑞, 李欣, 孙丽娟, 赵勤, 叶汉风. 云南阿昌族、景颇族、傈僳族育龄妇女叶酸代谢相关基因遗传多态的比较研究[J]. 云南大学学报(自然科学版), 2017, 39(1): 155-164. doi: 10.7540/j.ynu.20160432
引用本文: 谢正媛, 袁彦玲, 陈涓涓, 李根瑞, 李欣, 孙丽娟, 赵勤, 叶汉风. 云南阿昌族、景颇族、傈僳族育龄妇女叶酸代谢相关基因遗传多态的比较研究[J]. 云南大学学报(自然科学版), 2017, 39(1): 155-164. doi: 10.7540/j.ynu.20160432
XIE Zheng-yuan, YUAN Yan-ling, CHEN Juan-juan, LI Gen-rui, LI Xin, SUN Li-juan, ZHAO Qin, YE Han-feng. A study on genetic variants of folic acid metabolism-related genes among fertile women of the Achang,Jingpo and Lisu Population in Yunnan Province[J]. Journal of Yunnan University: Natural Sciences Edition, 2017, 39(1): 155-164. DOI: 10.7540/j.ynu.20160432
Citation: XIE Zheng-yuan, YUAN Yan-ling, CHEN Juan-juan, LI Gen-rui, LI Xin, SUN Li-juan, ZHAO Qin, YE Han-feng. A study on genetic variants of folic acid metabolism-related genes among fertile women of the Achang,Jingpo and Lisu Population in Yunnan Province[J]. Journal of Yunnan University: Natural Sciences Edition, 2017, 39(1): 155-164. DOI: 10.7540/j.ynu.20160432

云南阿昌族、景颇族、傈僳族育龄妇女叶酸代谢相关基因遗传多态的比较研究

A study on genetic variants of folic acid metabolism-related genes among fertile women of the Achang,Jingpo and Lisu Population in Yunnan Province

  • 摘要: 本研究以云南省阿昌族、景颇族和傈僳族3个特有少数民族的育龄妇女(每个民族各200例,共600例)作为研究对象,采用SNapShot技术对MTHFR(C677T、A1298C)、MTRR(A66G)、MTHFD(A1958G、C401T)、MTR(A2756G)和RFC1(A80G)5个与叶酸代谢相关的基因中的7个多态位点进行突变检测分析,以期揭示叶酸代谢相关基因的SNP频率在云南上述3个少数民族育龄妇女中的分布差异,并将本研究的数据与中国已报道地区数据相比较,为评估不同民族的叶酸代谢障碍风险提供参考数据.研究结果显示:MTHFR基因的 C677T和A1298C,MTRR基因的A66G及RFC1基因的 A80G位点的基因型频率在3个不同民族的育龄妇女群体中的差异存在统计学意义(χ2=21.98,16.92,30.32,57.97;P<0.05);MTHFR C677T,MTHFR A1298C,MTRR A66G及RFC1 A80G位点的等位基因频率在统计学上存在差异(χ2=12.73,11.84,6.87,41.32;P<0.05).特别对于纯合突变,傈僳族MTHFR的677TT和1298CC,MTHFD的1958GG和401TT及RFC1的80GG纯合突变基因型频率(依次为11.6%、5.6%、79.9%、11.7%、63.0%)均比阿昌族(依次为4.0%、4.8%、75%、11.3%、36.9%)和景颇族(依次为4.0%、4.1%、69.8%、11.4%、26.5%)高;而景颇族(20.3%)则表现出较阿昌族(9.2%)和傈僳族(3.6%)高的MTRR 66GG纯合突变基因型频率.云南特有少数民族育龄妇女MTHFR C677T、A1298C,MTRR A66G 3个位点的基因型频率和等位基因频率与我国其他22个地区女性相比,存在一定的差异.上述结果初步揭示云南特有的阿昌、景颇和傈僳3个少数民族在上述5个与叶酸代谢相关的基因中的SNP多态具有一定的群体特异性和地域特异性.

     

    Abstract: A total of 600 peripheral venous blood samples of Achang,Jingpo and Lisu Population (200 samples for each minority) in Yunnan Province who participated in pre-pregnancy health examinations were collected in this study.The detection of genetic variants of folic acid metabolism-related genes as MTHFR C677T,A1298C,MTRR A66G,MTHFD A1958G,C401T,MTR A2756G and RFC1 A80G was conducted by SnaPShot technology.The distribution of gene polymorphisms was analyzed and compared with other regions in China which have been reported.The results showed that it was significant different in genotypes frequency of MTHFR C677T,MTHFR A1298C,MTRR A66G and RFC1 A80G among these three minorities(χ2=21.98,16.92,30.32,57.97;P<0.05),meanwhile,the allele frequency of MTHFR C677T,MTHFR A1298C,MTRR A66G and RFC1 A80G was significant different among these three minorities (χ2=12.73,11.84,6.87,41.32;P<0.05).The genotype frequency of MTHFR 677TT,MTHFR 1298CC,MTHFD 1958GG,MTHFD 401TT and RFC1 80GG in Lisu nationality(11.6%,5.6%,79.9%,11.7%,63.0%)was higher than that of the populations of Achang(4.0%,4.8%,75%,11.3%,36.9%)and Jingpo(4.0%,4.1%,69.8%,11.4%,26.5%).The frequency of MTRR 66GG (20.3%) in Jingpo was the highest.The gene polymorphism distribution of MTHFR C677T,A1298C and MTRR A66G among the fertile women of Achang,Jingpo and Lisu Nationality in Yunnan Province was region-specific and population-specific comparing with the populations in other regions of China.

     

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