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α地中海贫血是一组由于α珠蛋白基因缺失所致的血红蛋白病。作者应用Southern的限制性内切酶定位技术,测定了正常人和各类α地中海贫血病人的α珠蛋白基因组成。方法是从正常人和α地中海贫血患者的细胞中提取DN人,在一定温度条件下,用限制性内切酶消化,消化产物作电泳分离,然后将分离的DNA片段移至硝酸纤维素滤纸上,和用同位素标记的珠蛋白α-cDNA进行分子杂交,并通过放射自显影术进行鉴定。结果:(1)正常人用内切酶EcoRI消化后,只出现一种23.0kb长的DNA片段(此片段内含有3＇和5＇端的二个α基因),因此只出现一条电泳区带。(2)α地中海贫血2(αtha1.2)患者,除了有23.0kb片段外,还多了一个19.0kb的EcoRI片段(这个片段只包含3＇端的α基因),共出现二条电泳区带:一条在23kb处,另一条在19kb处。(3)中
Alpha thalassemia is a group of hemoglobinopathies that result from the absence of the alpha globin gene. The authors used Southern restriction endonuclease mapping to determine the alpha-globin gene in normal individuals and in various types of patients with alpha thalassemia. The method consists of extracting DN from cells of normal people and α-thalassemia patients, digesting them with restriction enzyme at a certain temperature, separating the digested products by electrophoresis, and then moving the isolated DNA fragments onto a nitrocellulose filter paper , And molecular hybridization with isotopic labeled globin alpha-cDNA and identification by autoradiography. Results: (1) Only a single 23.0 kb DNA fragment (two α genes at the 3 ’and 5’ ends) was found in the normal human digested with EcoRI. Therefore, only one electrophoretic band appeared. (2) In addition to the 23.0 kb fragment, a 19.0 kb EcoRI fragment (containing only the 3 ’α gene) was found in patients with α thal 2 (αtha1.2). Two electrophoresis bands appeared: one At 23kb and the other at 19kb. (3)