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目的了解德宏地区地中海贫血(简称地贫)检出率和基因缺失突变类型。方法先以红细胞指数、微量血红蛋白电泳、HbA_2定量等进行初筛,然后以PCR和反向点杂交技术鉴定β-地贫基因突变类型;以跨跃断裂位点PCR(GAP-PCR)技术和凝胶电泳鉴定α-地贫基因缺失类型,最后再对所有β-地贫阳性样本进行α-地贫基因检测。在选定的先证者所能寻找到的家族成员中采集血样,直接检测基因类型并展开家系调查。结果 3018例受检者中检出α-、β-地贫阳性848例,总检出率为28.10%,其中α-地贫554例(18.36%)、β-地贫385例(包括HbE 375例)检出率为12.76%;β-地贫复合α-地贫检出率为22.60%;在4例家系调查先证者的56例家族成员中检出阳性44例(78.5%)。结论跨跃断裂位点PCR和反向点杂交技术能快速检测3种常见缺失型α-地贫和β-地贫基因突变,具有简便、快捷和准确的特点;德宏地区是我国地贫特别高发地区,需加强婚前检查及产前诊断。
Objective To understand the detection rate of thalassemia and the gene deletion mutation in Dehong area. Methods The primary screening method was erythrocyte index, hemoglobin electrophoresis and HbA_2 quantification. The mutation types of β-thalassemia were identified by PCR and reverse dot blot hybridization. Based on the GAP-PCR and GAP-PCR, Gel electrophoresis was used to identify the type of α-thalassemia deletion. Finally, all α-thalassemia genes were detected in all β-thalassemia positive samples. Blood samples were collected from the family members that the selected probands were able to look for, detecting genotypes directly and conducting family surveys. Results A total of 848 cases of α-thalassemia and β-thalassemia were detected in 3018 subjects, the total positive rate was 28.10%, of which 554 (18.36%) were a-thalassemia, 385 cases of β-thalassemia (including HbE 375 The detection rate was 12.76%. The detection rate of β-thalassemia combined with α-thalassemia was 22.60%. Forty-four cases (78.5%) were detected in 56 cases of family members of 4 family history probands. Conclusion It is easy, quick and accurate to detect three common deletions a-thalassemia and β-thalassemia gene by crossover site PCR and reverse dot blot. Dehong area is one of the most common thalassemia High incidence areas, the need to strengthen the prenatal diagnosis and prenatal diagnosis.