本文選題：阿昌族 + 景頗族��； 參考：《云南大學學報(自然科學版)》2017年01期

【摘要】：本研究以云南省阿昌族、景頗族和傈僳族3個特有少數(shù)民族的育齡婦女(每個民族各200例,共600例)作為研究對象,采用SNap Shot技術(shù)對MTHFR(C677T、A1298C)、MTRR(A66G)、MTHFD(A1958G、C401T)、MTR(A2756G)和RFC1(A80G)5個與葉酸代謝相關(guān)的基因中的7個多態(tài)位點進行突變檢測分析,以期揭示葉酸代謝相關(guān)基因的SNP頻率在云南上述3個少數(shù)民族育齡婦女中的分布差異,并將本研究的數(shù)據(jù)與中國已報道地區(qū)數(shù)據(jù)相比較,為評估不同民族的葉酸代謝障礙風險提供參考數(shù)據(jù).研究結(jié)果顯示:MTHFR基因的C677T和A1298C,MTRR基因的A66G及RFC1基因的A80G位點的基因型頻率在3個不同民族的育齡婦女群體中的差異存在統(tǒng)計學意義(χ2=21.98,16.92,30.32,57.97;P0.05);MTHFR C677T,MTHFR A1298C,MTRR A66G及RFC1 A80G位點的等位基因頻率在統(tǒng)計學上存在差異(χ2=12.73,11.84,6.87,41.32;P0.05).特別對于純合突變,傈僳族MTHFR的677TT和1298CC,MTHFD的1958GG和401TT及RFC1的80GG純合突變基因型頻率(依次為11.6%、5.6%、79.9%、11.7%、63.0%)均比阿昌族(依次為4.0%、4.8%、75%、11.3%、36.9%)和景頗族(依次為4.0%、4.1%、69.8%、11.4%、26.5%)高;而景頗族(20.3%)則表現(xiàn)出較阿昌族(9.2%)和傈僳族(3.6%)高的MTRR 66GG純合突變基因型頻率.云南特有少數(shù)民族育齡婦女MTHFR C677T、A1298C,MTRR A66G 3個位點的基因型頻率和等位基因頻率與我國其他22個地區(qū)女性相比,存在一定的差異.上述結(jié)果初步揭示云南特有的阿昌、景頗和傈僳3個少數(shù)民族在上述5個與葉酸代謝相關(guān)的基因中的SNP多態(tài)具有一定的群體特異性和地域特異性.
[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.
【作者單位】： 云南省人口和計劃生育科學技術(shù)研究所西部孕前優(yōu)生重點實驗室云南省生育調(diào)節(jié)與少數(shù)民族優(yōu)生重點實驗室;
【基金】：云南省應(yīng)用基礎(chǔ)研究計劃項目青年項目(2013FD084)
【分類號】：R394

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