贵州地区重型β-地中海贫血基因突变类型分析

Analysis of Gene Mutation Types of Severe β-thalassemia in Guizhou Province

目的:了解贵州地区重型β-地中海贫血基因突变类型及分布情况。方法:1 980例疑诊的β-地中海贫血贵州籍患者,采用反向斑点杂交技术对中国人群中8种常见和9种少见β-地中海贫血基因突变类型进行检测,对检出的突变基因型及其分布频率进行分析。结果:共检出128例重型β-地中海贫血,其中纯合子62例,双重杂合子66例;共检出14种突变基因型,按分布频率大小前4种依次为CD17/CD17(28.13%)、CD41-42/CD17(23.44%)、CD41-42/CD41-42(17.19%)、IVS-Ⅱ-654/CD17(7.81%);共检出等位基因突变类型8种,前4种依次为CD17(46.09%)、CD41-42(35.16%)、IVS-Ⅱ-654(10.55%)和-28(5.08%)。结论:贵州地区重型β-地中海贫血基因突变类型以CD17、CD41-42、IVS-Ⅱ-654最常见。

Objective： To investigate the types and distribution of gene mutations of severe β-thalassemia in Guizhou province. Methods： 1980 cases of patients of Guizhou suspected of beta thalassemia from November,2009 to March,2011 were recruited in this study. Reverse dot blot hybridization（ RDB） was adopted to detect common types of β-thalassemia mutations in Chinese population and 128 cases of patients were diagnosed as severe β-thalassemia,whose mutant genotype and distribution frequency were analyzed. Results： In 128 β-thalassemia cases,there were 62 mutant homozygotes and66 compound heterozygotes. A total of 14 β-thalassemia major genotypes mutations and 8 allelic gene mutations were detected. In term of distribution frequency,the first four high frequency of 14 mutations were CD17 / CD17（ 28. 13%）,CD41- 42 / CD17（ 23. 44%）,CD41- 42 / CD41- 42（ 17. 19%）,IVS-Ⅱ- 654 / CD17（ 7. 81%）,respectively. At the same time,the first four high frequency of 8 allelic gene mutations were CD17（ 46. 09%）,CD41- 42（ 35. 16%）,IVS-Ⅱ- 654（ 10. 55%） and- 28（ 5. 08%）,respectively. Conclusion： In severe β-thalassemia of Guizhou province,the main genetic mutations are CD17,CD41- 42 and IVS-Ⅱ- 654.