中山市黄圃地区92例地中海贫血患者基因型分析

目的了解中山市黄圃地区地中海贫血患者基因型构成,为中山市地中海贫血的产前诊断、遗传咨询和预防计划提供有价值的资料。结论抽取92例经血红蛋白电泳筛查并经临床诊断为地中海贫血的患者静脉血,用Gap-PCR方法检测α地中海贫血患者3种常见基因缺失和用PCR结合反向斑点杂交法检测β地中海贫血患者17个常见基因突变位点。结果对92例地中海贫血患者进行基因检测,检测出α地中海贫血60例（65.2%）,β地中海贫血32例（34.8%）,其中60例α地中海贫血患者3种基因缺失中,检测出-SEA54例（71.1%）、-α3.715例（19.7%）、-α4.27例（9.2%）,其基因型以-SEA/αα最常见（63.2%）。32例β地中海贫血患者基因突变位点CD41-4210例（31.4%）、CD177例（21.9%）、IVS-Ⅱ-6547例（21.9%）、-282例（6.3%）、CD432例（6.3%）、CD71-721例（3.1%）、βE1例（3.1%）。结论中山市黄圃地区地中海贫血患者基因型中α地中海贫血患者以-SEA/αα基因型最为常见,β地中海贫血患者基因突变位点以CD41-42点突变最为常见,为本地区开展产前诊断和遗传咨询提供了参考资料。

Genotypic analysis of thalassemia of patients from the Huangpu district,Zhongshan city

Objective To investigate the genotypes of thalassemia from patients living in Huangpu district,Zhongshan city and provide information for prenatal diagnosis,genetic counseling and disease prevention. Methods 92 samples of venous blood from patients with thalassemia were collected and analyzed by hemoglobin electrophoresis and clinical diagnosis.α-thalassemia gene deletion in patients with 3 common by using Gap-PCR and the use of PCR with reverse dot blot hybridization of 17 patients with β-thalassemia a common gene mutation. Results 60 cases （65.2%） of α-thalassemia were identified, in which 54 cases （71.1%） were --SEA, 15 cases （19.7%） were-α3.7,and 7 cases（9.2%） were -α4.2. --SEA/αα was the most common genotype （63.2%）.32 cases （34.8%） of β-thalassemia were identified, in which CD 41-42 mutation （10 cases, 31.4%）, CD17 mutation （7 case, 21.9%）, IVS-Ⅱ-654 mutation （7 cases, 21.9%）, IVS-Ⅱ-28 mutation （2 cases, 6.3%）, CD43 mutation （2 cases, 6.3%）, CD71-72 and （1 cases, 3.1%） and βE mutation （1 cases, 3.1%）. Conclusion α-thalassemia （--SEA/αα） is common in the Zhongshan Huangpu district.CD 41-42 point mutation is common in β-thalassemia. This finding can provide the basis for prenatal diagnosis in the region.