Horst J, Griese E U, Kleihauer E, Kohne E
Hum Genet. 1984;68(3):260-3. doi: 10.1007/BF00418398.
Restriction endonuclease mapping of chromosomal DNA has been used to determine whether the alpha-globin gene deletion or non-deletion form of alpha-thalassemia is the underlying molecular defect in individuals of two unrelated German families with alpha-thalassemia syndromes. The obtained DNA pattern in all cases indicated loss of alpha-globin genes resulting in -alpha/alpha alpha, --/alpha alpha, and --/-alpha genotypes in alpha-thalassemia-2, alpha-thalassemia-1, and Hb H individuals respectively. The chromosomes showing loss of one alpha-globin gene in alpha-thalassemia-2 and Hb H disease were characterized by the so-called rightward deletion form exhibiting loss of a 3.7 kb DNA fragment in the alpha-gene cluster.
染色体DNA的限制性内切酶图谱分析已被用于确定α地中海贫血的α珠蛋白基因缺失或非缺失形式是否是两个患有α地中海贫血综合征的不相关德国家庭个体的潜在分子缺陷。在所有病例中获得的DNA图谱表明α珠蛋白基因缺失，分别导致α地中海贫血2型、α地中海贫血1型和Hb H个体出现-α/αα、--/αα和--/-α基因型。在α地中海贫血2型和Hb H病中显示一个α珠蛋白基因缺失的染色体的特征是所谓的向右缺失形式，即在α基因簇中缺失一个3.7 kb的DNA片段。
