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目的:了解湖北地区儿童地中海贫血(地贫)基因型的分布情况。方法:选取接受α、β地贫基因筛查后确诊为地贫的0~12岁患者,进行基因结果分析。结果:1 431例儿童标本中经基因确诊者有273例,其中189例为β-地贫,占69.23%,共检出10种突变基因,以CD41-42、IVS-Ⅱ-654及CD17为主,占突变的85.92%;78例为α-地贫,占28.57%,最常见的是α-SEA突变基因,占突变的72.84%;检出α-合并β-地贫6例,占2.20%。结论:湖北地区α-地贫以α-SEA突变为主,β-地贫排在前3位的基因突变分别是IVS-Ⅱ-654、CD41-42和CD17,α-合并β-地贫占地贫基因检出阳性病例的2.20%。本研究对湖北地区地贫基因型及其构成比进行分析,建立湖北地区地贫基因库,可以为预防计划和遗传咨询、产前诊断提供基础资料,从而对减少重型地贫患儿的出生具有重要意义。
Objective: To understand the distribution of thalassemia (thalassemia) genotype in children in Hubei province. Methods: The patients aged 0-12 years who were diagnosed as thalassemia after screening for thalassemia gene were analyzed for gene expression. Results: A total of 273 cases were diagnosed by gene in 1 431 children, of which 189 cases were β-thalassemia, accounting for 69.23%. A total of 10 mutant genes were detected. CD41-42, IVS-Ⅱ-654 and CD17 were Main, accounting for 85.92% of the mutation; 78 cases of α-thalassemia, accounting for 28.57%, the most common is the α-SEA mutation gene, accounting for 72.84% of the mutation; detected α-merged β-thalassemia in 6 cases %. CONCLUSION: Alpha-thalassemia major is α-SEA mutation in Hubei Province. The first three mutations of β-thalassemia gene are IVS-Ⅱ-654, CD41-42 and CD17, and α-thalassemia combined 2.20% of thalassemia gene positive cases detected. This study analyzed the genotype and its constituent ratio of thalassemia in Hubei province, and established the thalassemia gene pool in Hubei Province, which can provide basic information for prevention programs and genetic counseling and prenatal diagnosis so as to reduce the incidence of thalassemia Significance.