云南德宏地区地中海贫血社区群体筛查和基因诊断(终审稿).docVIP

云南德宏地区社区群体筛查和基因附4例家系调查摘要：目的 了解云南德宏地区检出率和基因突变类型。方法 先以红细胞指数、微量血红蛋白电泳、HbA2 定量进行初筛，然后以PCR和反向点杂交技术β-地贫基因；以跨跃断裂位点PCR（GAP-PCR）技术和凝胶电泳α-地贫基因缺失类型在选定的先证者所能寻找到的家成员中采样，直接检测基因型家系调查。结果 3018例受检者中检出α、β阳性848例，总检出率28.10%，其中α-地贫例（%）、β-地贫例HbE375例12.76%；β-地贫复合α-地贫检出率22.60%；在先证者的名家成员中检出阳性例()。结论 跨跃断裂位点PCRα-地贫和β-地贫基因云南德宏地区是我国地贫特别高发地区。 关键词地中海贫血 群体筛查家系调查 基因Gene　diagnostication and screening with regard to thalassemia of society colony in Yunan Dehong region（4 caes of family attached） Yang Yan-Qi1，Ge Shi-Jun1，Fan Yun-Hua1，Liu Hou-Chang1，Yang Bi-Qing1，Wang Guan1，Yu Zu-Xiang1,Chen Zu-Chong2, Yin Zhao-Qing2,Luo Xiang-Mei3 1 Department of Laboratory Medicine Science，2 Department of Paediatrics, 3 Department of Obstetrics and Gynecology, Dehong Prefecture People’s Hospital, Yunan Luxi 678400,China Abstract [Objectve]The purpose of this study is to investigate the incidence ratio and mutation type of thalassemia in the Yunan Dehong region.[Methods] At first,The samples are screened by means of red-cell exponent, micro-dosage hemoglobin electrophoresis，Hemoglobin A2 quantitation respectively. Then the β-thalassemia mutation genotyping were identified through reverse dot-blotting hybridization technique. The α-thalassemia gene deletion were diagnosed by GAP-PCR and gel electrophoresis. the positive samples of β-thalassemia were detected with α-thalassemia gene deletion screening. Finally, We collect the blood specimen and carry on the pedigree investigation in which we detecte the genotype in selected probands of the family members. [Results] Altogether 848 cases(28.10%)were the positive among 3018 samples who were detected α, β-thalassemia. In 848 positive cases, 554 cases are α-thalassemia, β-thalassemia (including HbE375 cases) were 385 cases,the positive rate is 12.76%. The incidence rate of β-thalassemia recombination α-thalassemia was 22.60%. There are 44 positive cases of which 56 family members were detected in 4 proband investigation. [Conclusions] The thalassemia can be rapidly,si