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以限制性内切酶及印迹杂交技术,用α-珠蛋白基因探针分析广东地区21例HbH病病人的α-珠蛋白基因在染色体上的排列,结果10例为非缺失型与α-地贫1的双重杂合子,1例为非缺失型纯合子,6例为右侧缺失型α-地贫2与α-地贫1双重杂合子,4例为左侧缺失型α-地贫2与α-地贫1双重杂合子。
Using restriction endonuclease and Southern blotting, we analyzed the chromosomal arrangement of α-globin genes in 21 cases of HbH patients in Guangdong using α-globin gene probe. Results of 10 cases were non-deletion and α-site Double heterozygote with 1 deficiency, and 1 non-deletion homozygote. Six cases were double heterozygote of right deletional α-thalassemia 2 and α-thalassemia 1, and 4 cases of left deletional α-thalassemia 2 And α-thalassemia 1 double heterozygote.