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目的研究桂西地区2012年-2014年珠蛋白生成障碍性贫血患者的基因型及构成比。方法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),α-珠蛋白基因点突变型和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 2012年-2014年连续3年α和β珠蛋白生成障碍性贫血基因型检出率分别排在前两位的都是αα/--SEA、α3.7/αα、17M/N和41-42M/N;α+β混合型珠蛋白生成障碍性贫血随检测人数增多,检出的例数也逐年增多。结论连续3年的基因型检测结果显示αα/--SEA、-α3.7/αα、17M/N和41-42M/N分别是桂西地区α和β珠蛋白生成障碍性贫血最常见的突变类型,桂西地区珠蛋白生成障碍性贫血防治工作依然严峻。
Objective To study the genotype and composition of patients with thalassemia in 2012-2014 in western Guangxi. Methods Detection of α-globin aplastic anemia deletion detection by polymerase chain reaction (GAP-PCR), α-globin gene point mutation and β thalassemia gene mutation site detection using polymerase chain reaction Dot hybridization (PCR-RDB). Results The positive rates of αα / - SEA, α3.7 / αα, 17M / N and 41 - a were highest in the three genotypes of α and β - thalassemia, respectively, 42M / N; α + β mixed globin aplastic anemia with the detection of the number increased, the number of cases detected also increased year by year. Conclusion The genotypes of three consecutive years showed that αα / - SEA, -α3.7 / αα, 17M / N and 41-42M / N were the most common mutations in α and β-thalassemia in western Guangxi, respectively Type, prevention and treatment of plague-associated anemia in western Guangxi is still serious.