Lie-Injo L E, Solai A, Herrera A R, Nicolaisen L, Kan Y W, Wan W P, Hasan K
Blood. 1982 Feb;59(2):370-6.
The white blood cell DNA of 36 cord blood samples with Hb Bart's in the red blood cells was studied for alpha-globin gene deletions by hybridization of DNA fragments digested by the restriction endonucleases Eco RI, Hpa I, Bam HI, and Bgl II. All 16 DNA samples from cord blood with Hb Bart's below 3% and no other abnormal hemoglobin had one alpha-globin gene deletion (alpha thal2), except one which had two alpha-globin gene deletions (alpha thal1). Most of the alpha thal2 were of the rightward deletion alpha thal2 genotype. Two new types of alpha thal2 variation was found, probably due to a polymorphism somewhere in an area outside the alpha-globin gene. All 14 cases with Hb Bart's between 3.5% and 8.5% and no other abnormal hemoglobin had two alpha-globin gene deletions (alpha thal1), except one that did not have any alpha-globin gene deletion and one that had one alpha-globin gene deletion. Three DNA samples of cord blood with Hb Bart's accompanied by Hb CoSp did not have any alpha-globin gene deletion. Sixty-five DNA samples from cord blood without Hb Bart's or other abnormal hemoglobin had no alpha-globin gene deletions, except one that had one alpha-globin gene deletion (alpha thal2). Two of the 65 DNA samples were found to have triplicated alpha-globin gene loci.
通过用限制性内切酶Eco RI、Hpa I、Bam HI和Bgl II消化的DNA片段杂交，研究了36份红细胞中有Hb Bart's的脐血样本的白细胞DNA中的α-珠蛋白基因缺失情况。来自脐血的16份DNA样本，其Hb Bart's低于3%且无其他异常血红蛋白，除1份有两个α-珠蛋白基因缺失（α地中海贫血1型）外，其余均有一个α-珠蛋白基因缺失（α地中海贫血2型）。大多数α地中海贫血2型为右向缺失α地中海贫血2型基因型。发现了两种新型的α地中海贫血2型变异，可能是由于α-珠蛋白基因以外区域某处的多态性所致。所有14例Hb Bart's在3.5%至8.5%之间且无其他异常血红蛋白的病例均有两个α-珠蛋白基因缺失（α地中海贫血1型），但有1例无任何α-珠蛋白基因缺失，1例有一个α-珠蛋白基因缺失。3份伴有Hb CoSp的脐血DNA样本无任何α-珠蛋白基因缺失。65份无Hb Bart's或其他异常血红蛋白的脐血DNA样本，除1份有一个α-珠蛋白基因缺失（α地中海贫血2型）外，均无α-珠蛋白基因缺失。在65份DNA样本中，有2份被发现有α-珠蛋白基因位点三倍体。
