桂西地区珠蛋白生成障碍性贫血基因型构成比研究

目的研究桂西地区2013年的珠蛋白生成障碍性贫血患者的基因型及构成比。方法3种α珠蛋白生成障碍性贫血缺失型检测应用跨跃断裂位点聚合酶链法（GAP-PCR），3种α-珠蛋白基因点突变型和17种β地贫基因突变位点检测采用聚合酶链反向点杂交法（PCR-RDB）。结果基因确诊为α珠蛋白生成障碍性贫血患者211例，排前五位基因型及构成比依次为αα／--^SBA（46．45％）、-α^3.7／αα（10．90％）、α^csα／--^SEA（10．43％）、α^csα/αα（8．06％）和-α^3.7／--SEA（7．11％）；β珠蛋白生成障碍性贫血患者114例，17M／N和41-42M／N基因型占主导地位，构成比分别是36．84％和29．82％；另外检出α＋β混合型珠蛋白生成障碍性贫血34例。结论αα／--SEA、17M／N和41-42M／N是桂西地区α和β珠蛋白生成障碍性贫血最常见的突变类型。

Anslysis of the Genotype composition ratio with thalassemia in Guixi. ZHANG Yao-ping,

Objective： To evaluation the genotype and constituent ratio in patients with thalassemia in 2013 Guixi. Methods： α-thalassemia patients diagnosed by polymerase chain reaction （GAP-PCR） , reverse dot-blot hybridization technique was used to detect the three genotype point mutations type of α-thalassemia gene and the 17 mutation loci of β- thalassemia gene. Results： 211 samples were diagnosed with α-thalassemia, the top five genotypes and their constituent ratio were αα/--SEA （46.45%） , -α^3.7/αα（10.90%） . α^csα/--SEA （10.43%） 、 α^csα/αα（8.06%） and-α3.7/--SEA （7.11%） , 114 samples were diagnosed with β- thalassemia, 17M/N and 41-42M/N is the predominant genotype, the constituent ratio was 36.84% and 29.82%. 34 samples were diagnosed with α＋β- combination thalassernia. Conclusions： αα/--^SEA. 17M/N and 41-42M/N were the most common mutation in α- thalassemia and β- thalassemia in Guixi.