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目的为了有效预防芒市地区德昂族地中海贫血病,了解其基因缺失突变类型及阳性率。方法先以红细胞指数、微量血红蛋白电泳、HbA2定量等进行初筛,然后以PCR和反向点杂交技术鉴定β-地中海贫血基因突变类型;以跨跃断裂位点PCR(GAP-PCR)技术和凝胶电泳鉴定α-地中海贫血基因缺失类型,最后再对所有地中海贫血阳性样本进行α-贫基因检测。结果 364例受检者中检出α、β-地中海贫血阳性共174例,占47.80%。其中α-地中海贫血占31.87%,β-地中海贫血占15.93%。结论德昂族是芒市地区的主要少数民族之一,地中海贫血发病率较高,严重影响人们的身体健康,开展社会宣教、人群调查和重点筛查、遗传咨询、产前基因诊断等控制措施,将是今后工作的重点。
Objective In order to effectively prevent Deang national Thalassemia disease in Mangshi area, we know the type and positive rate of gene deletion mutation. Methods The primary screening of erythrocyte index, trace hemoglobin electrophoresis and HbA2 quantification was carried out. The mutation types of β-thalassemia were identified by PCR and reverse dot blot hybridization. Based on GAP-PCR and GAP-PCR, Gel electrophoresis identification of α-thalassemia gene deletion type, and finally all the positive samples of thalassemia α-poor gene detection. Results Among the 364 subjects, 174 cases were positive for α, β-thalassemia, accounting for 47.80%. Among them, α-thalassemia accounted for 31.87%, β-thalassemia accounted for 15.93%. Conclusion De’ang is one of the major ethnic minorities in Mangshi. The prevalence of thalassemia is high, which seriously affects people’s health. It conducts social control education, crowd investigation and key screening, genetic counseling, prenatal genetic diagnosis and other control measures, Will be the focus of future work.