跨越断裂位点PCR检测α-地中海贫血基因缺失  

Detection of α-Thalassemia Gene Deletion with GAP-PCR

作　　者：李志玖 郑芳[1] 燕平 

机构地区：[1]武汉大学医学部第二临床学院,湖北武汉430071 [2]郧阳医学院附属太和医院肿瘤科,湖北十堰442000

出　　处：《湖北医药学院学报》2009年第5期451-452,456,共3页Journal of Hubei University of Medicine

摘　　要：目的:运用跨越断裂位点PCR(GAP-PCR)法检测α-地中海贫血(α-Thal)基因缺失类型,评价临床应用的可行性。方法:对213例临床疑诊为α-Thal患者血液标本进行GAP-PCR法检测。结果:α-Thal基因缺失阳性率为42.34%(90/213),其中--SEA为32.39%,-α3.7为7%,-α4.2为1.88%,GAP-PCR法检测敏感度、特异度和准确度均为100%。结论:GAP-PCR检测α-Thal基因缺失类型结果准确,操作简便,为诊断和筛查α-Thal的有效方法。Objective To estimate the feasibility of GAP-PCR in detecting α-Thalassemia gene deletion and the deletion type as well.Methods The blood samples of 213 patients with clinically suspected α-Thalassemia were detected with GAP-PCR.Results The positive rate of α-Thalassemia gene deletion was 42.34%(90/213),and the type of——SEA accounted for 32.91%,the type of-α 3.7 accounted for 7% and the type of-α 4.2 1.88%;the rate of sensitivity,specificity and accuracy were all 100%.Conclusion The GAP-PCR could be a simple,accurate and efficient method for screening and diagnosis of α-Thalassemia.

关 键 词：Α-地中海贫血 跨越断裂位点-聚合酶链反应 基因诊断 

分 类 号：R556[医药卫生—血液循环系统疾病]