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利用限制性内切酶将DNA切割成大小不等的片段,经琼脂电泳分离和硝酸纤维膜转移,用~32P标记的α-探针杂交,最后经放射性自显影而获得内切酶图谱。结果,5例Hb H病中存在4种α-珠蛋白基因型。2例非缺失型,基因型αα~r/--。1例系HbC.S和α-地贫1的双重杂合子,基因型αα~c·s/--。另2例分别为左侧缺失型和右侧缺失型。本研究的完成将有助于本地区α-地中海贫血的产前诊断。
Restriction endonucleases were used to cut the DNA into fragments of different sizes. The fragments were separated by agarose electrophoresis and transferred into nitrocellulose membrane. The DNA was hybridized with ~ -P-labeled α-probe and finally the endonuclease map was obtained by autoradiography. As a result, there were 4 types of α-globin genotypes in 5 cases of Hb H disease. 2 cases of non-deletion type, genotype αα ~ r / -. One case was a double heterozygote of HbC.S and α-thalassemia 1, genotype αα-c · s / -. The other two cases were left deletion type and right deletion type respectively. The completion of this study will help prenatal diagnosis of α-thalassemia in the region.