深圳市地中海贫血患者基因诊断结果分析

Thalassemia in Shenzhen:A Genotypic Analysis of 189 Cases

目的对深圳市育龄人群进行地中海贫血(地贫)筛查,为深圳市育龄人群的产前诊断和预防地贫患儿出生提供参考。方法抽取我院收治的254例经血红蛋白电泳筛查疑为地贫患者的静脉血,采用Gap-PCR的方法检测α地贫患者3种常见基因缺失;采用PCR结合反向斑点杂交法检测β地贫患者17个常见基因突变位点。结果有189例地贫患者得到确诊,其中120例(63.5%)为α地贫,64例(33.9%)为β地贫,5例(2.6%)为混合型地贫。在α地贫患者的3种基因缺失中,检测出-α4.214例(8.9%)、-α3.733例(20.9%)、-SEA 111例(70.3%),其基因型以-SEA/αα最为常见(73例,60.8%)。在β地贫患者基因突变位点中,CD41～4220例(31.3%)、IVS-Ⅱ-654 14例(21.9%)、CD17 14例(21.9%)、-28 6例(9.4%)、βE 2例(3.1%)、CD71～72 3例(4.7%)、CD435例(7.8%)。结论深圳市α地贫患者基因型中以-SEA/αα基因型最为常见,而在β地贫患者中基因突变位点以CD41～42点突变最为常见。少见或罕见类型缺陷需建立新的多重连接酶依赖探针扩增技术(MLPA)检测平台。

Objective To investigate the genotypes of thalassemia in childbearing age population in Shenzhen city to provide information for prenatal diagnosis and disease prevention.Methods Venous blood was extracted from 254 suspected patients with thalassemia to determine 3 kinds of common gene deletions by Gap-PCR and 17 common gene mutations by PCR combined with reverse spot hybridization.Results A total of 189 cases were diagnosed as thalassemia including 120 cases（63.5%）of which were identified α-thalassemia,64 cases（33.9%）were identified β-thalassemia and 5 cases were mixed thalassemia（2.6%）.111 cases（70.3%）of-SEA,33 cases（20.9%）of-α3.7,14 cases（8.9%）of-α4.2 were detected in 120 cases of α-thalassemia,respectively.-SEA/αα was the most common gene deletion（73 cases,60.8%）.20 cases（31.3%）of CD41~42,14 cases（21.9%）of CD17,14 cases（21.9%）of IVS-Ⅱ-654,6 cases（9.4%）of-28,5 cases（7.8%）of CD43,3 cases（4.7%）of CD71-72,2 cases（3.1%）of βE in 64 cases of β-thalassemia,respectively.Conclusion-SEA/ is the most common thalassemia genotype in Shenzhen city.CD41~42 is the common point mutation.A new MLPA detection technology platform should be set up for uncommon or rare types of deletions.