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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。
Objective To understand the genotypes of patients with thalassemia in Huangpu district of Zhongshan City and provide valuable information for prenatal diagnosis, genetic counseling and prevention programs of thalassemia in Zhongshan City. Conclusion Ninety-two patients with thalassemia were screened by hemoglobin electrophoresis and venous blood was collected. Gap-PCR was used to detect the three common gene deletions in patients with alpha thalassemia and PCR-reverse dot blot hybridization was used to detect beta thalassemia patients 17 common genetic mutation sites. Results A total of 92 cases of thalassemia were genotyped. Sixty cases (65.2%) with α-thalassemia and 32 (34.8%) cases with β-thalassemia were detected. Among the 60 cases with α-thalassemia, three genes were deleted, Cases (71.1%), - α3.715 cases (19.7%), - α4.27 cases (9.2%), the genotypes -SEA / αα the most common (63.2%). CD41-4210 cases (31.9%), CD177 cases (21.9%), IVS-Ⅱ-6547 cases (21.9%), 282 cases (6.3%) and CD432 cases (6.3%) in 32 cases of β thalassemia patients. ), CD71-721 cases (3.1%) and βE1 cases (3.1%). Conclusion Genotypes of α-thalassemia in Huang ane region were the most common type-SEA / αα genotypes in Chinese patients with idiopathic anemia in Huangpu district of Zhongshan City. The mutation of CD41-42 was the most common mutation in patients with β-thalassemia. Prenatal diagnosis was performed in this region And genetic counseling provided a reference.