傣族、水族和仡佬族人群的α地中海贫血基因突变分析

目的研究傣族、水族和仡佬族人群中常见α地中海贫血基因突变的频率和分布，探讨我国南方少数民族中α地中海贫血的分子流行病学特点。方法AK483例云南省傣族、180例贵州省水族和177例贵州省仡佬族的外周静脉血样本中分离基因组DNA，采用单管多重缺口PCR（Gap-PCR），进行-α^3.7、-α^4.2和-^SEA三种缺失型α地中海贫血基因突变的检测。结果被检测的傣族、水族和仡佬族样本中α地中海贫血基因突变的携带率分别为34．16％、12．22％和5．08％，以云南傣族的携带率最高。-α^3.7、-α^4.2和--^SHA突变的等位基因频率在傣族中分别是14．18％、0．31％和4．14％，在水族中分别是2．50％、0．28％和3．33％，在仡佬族中分别是1.41％、0．56％和0．56％。-α^3.7是傣族中最常见的突变类型，--^SEA则是水族中的常见突变类型。结论云南傣族、贵州水族和仡佬族中有较高的α地中海贫血基因突变携带率，我国南方不同地区和民族之间在基因突变的频率和分布上均有明显差异。

Detection of common alpha-thalassemia mutations in Dai,Shui and Gelao ethnic groups in Yunnan and Guizhou provinces,China.

Objective： To investigate frequency and distribution of the common alpha-thalassemia mutations in Dai, Shui and Gelao people in China. Methods： Genomic DNA were isolated from peripheral blood samples from 483 Dai ethnic individuals in Yunnan province, and from 180 Shui and 177 Gelao ethnic individuals in Guizhou province, China. Three common alpha- thalassemia mutations, - α^ 3.7, -α^4.2 and_-^SEA, were detected by using multiplex Gap-PCR. Results： The carder rates of alpha thalassemia mutation were 34.16%, 12.22% and 5.08% in Dai, Shui and Gelao people, respectively. Dai had the highest carrier rate among them. The allele frequencies of-α^3.7, - α^4.2 and--^SEA were 14.18%, 0.31% and 4.14% in Dai people, 2.50%, 0.28% and 3.33% in Shui people, and 1.41%, 0.56% and 0.56% in Gelao people, respectively. Alpha-thalassemia - α^3.7 was the most common mutation in the Dai people in Yunnan, though--^SEA was more frequent than the others in Shui people in Guizhou. Conclusion： Alpha-thalassemia is an major health problem with high prevalence in Dai, Shui and Gelao ethnic groups in Yunnan and Guizhou provinces, the frequency and distribution of the alpha-thalassemia mutations are significantly different among regions and among ethnic groups in south of China.