α-地中海贫血患者的α-珠蛋白基因组织的分析

Study on the Organization of Human α-Globin Gene (in Children)

α-地中海贫血是由于α-珠蛋白基因全部和部分缺失所致的一种遗传性溶血性贫血综合征。本文从重组质粒pHα_2中提取和纯化α_2片段(1.6kb),以α-^(32)p-dCTP标记做珠蛋白基因探针对Hb-H病人和Hb-Bart水肿综合征的血细胞DNA进行限制性内切酶谱分析。用HindⅢ和BglⅡ酶解Hb-H病人的非缺失型分别得16.4、4.5和3.8Kb三个特异片段和12.5、7.5二个片段。而Hb-H缺失型病人分别得到16.4、4.5和7.5或16Kb特异的α-基因片段。酶解Hb-Bart胎儿血DNA则没有α-基因特异片段。

α-Thalassemia major is a hereditary disease with a syndrome of hemolytic anemia, often caused bv the complete or partial deletion of a-globin genes. The authors isolated and purified the human α-globJn gene (a DNA fragment of 1.6kb) from a recombinant DNA of the plasmid PBR322, and labelled this fragment with α-32p-dCTP by nick translation as a probe for the detection of human α-globin gene. The genomic DNA of patients with Hb-H disease and hydrops fetalis is hybridized with this probe after the cleavage by various restriction enzymes. Hb-H adeficiency form samples produced 3 specific DNA fragments of 16.4, 4.5 and 3.8 kb in length when cut by HindⅢ, Hb-Hdisease samples produced 2 specific fragments of 16.4 and 4.5kb. Hb-H adeficicncv was 12.3 and 7.5 kb in length by BglⅡ, and Hb-H deficiency form and specific DNA fragments of 16 or 7.5 kb. The samples taken from fetus with hydrops fetalis produced no specific bands after the cleavage by various restriction enzymes when being hybridized with the α-globin gene probe.