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

发布时间：2018-05-12 17:58

本文选题：阿昌族 + 景颇族　；参考：《云南大学学报(自然科学版)》2017年01期

【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SNap Shot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;P0.05);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;P0.05).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]:In this study, women of childbearing age (200 cases of each ethnic group) from three unique minority nationalities of Achang, Jingpo and Lisu in Yunnan Province were selected as the research objects. Seven polymorphic loci of 5 genes related to folic acid metabolism were detected by SNap Shot technique in MTRRN C677TN A1298CnA1298CHFDG (MTHFDN A1958G) and RFC1mA80G) in order to reveal the distribution of SNP frequency of folate metabolism-related genes in the three ethnic minority women in Yunnan Province in order to reveal the difference in the distribution of the SNP frequency of the genes involved in folic acid metabolism in the three ethnic minority women in Yunnan Province. The results showed that the frequency of the genes involved in folic acid metabolism was different among the three minority women in Yunnan. In order to evaluate the risk of folate metabolism disorders in different ethnic groups, the data of this study were compared with those of reported regions in China in order to provide reference data for assessing the risk of folic acid metabolism disorders in different ethnic groups. The results showed that the genotypic frequencies of C677T, A66G and A80G of the two genes were significantly different among the three groups of women of childbearing age (蠂 2, 21.9816. 92, 30.32, 57.97, P 0. 05, P 0. 05), and the alleles of A1298 CMTRR A66G and RFC1 A80G of the MTHFR C677 and RFC1 A80G loci were significantly different. There was statistical difference in frequency (蠂 ~ 2 ~ 2 ~ (12.73) ~ 11.844 ~ 6.87 ~ 41.32) (P ~ (0.05). Especially for homozygous mutation, the frequency of homozygous mutation in Lisu nationality with 677TT and 1298 CC-MTHFD 1958GG and 401TT, and RFC1 with 80GG homozygous mutation (11.65.69.9 in turn) was higher than that of Achang nationality (4.00.4.84.711.33.9in turn) and Jingpo nationality (4.00.4.14.69.811.47.45). The Jingpo nationality showed a higher genotype frequency of homozygous MTRR 66GG mutation than that of the Achang nationality (9.2kun) and the Lisu nationality (3.6g). The genotype frequency and allele frequency of MTHFR C677TX A1298CnMRR A66G in Yunnan endemic minority women of childbearing age were significantly different from those in other 22 regions of China. The results indicated that the SNP polymorphism of the five genes related to folic acid metabolism in the three ethnic groups of Achang, Jingpo and Lisu had a certain population specificity and geographical specificity.
【作者单位】：云南省人口和计划生育科学技术研究所西部孕前优生重点实验室云南省生育调节与少数民族优生重点实验室;
【基金】：云南省应用基础研究计划项目青年项目(2013FD084)
【分类号】：R394

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