Sancar G B, Cedeno M M, Rieder R F
Johns Hopkins Med J. 1980 Jun;146(6):264-9.
Both Eco RI and Eco RI x Bam HI restriction endonuclease digests of DNA from black Americans with alpha thalassemia yielded an alpha-specific fragment 4 kb shorter than in normals. In Hb H disease, only the shorter fragment was noted, while in "silent carriers" (alpha-thal 2 trait), both the normal and shorter fragments were detected. One subject with single gene deletions on both homologous chromosomes (alpha-thal 1 phe. A non-deletional form of alpha thalassemia also was discovered.
对患有α地中海贫血的美国黑人的DNA进行Eco RI和Eco RI x Bam HI限制性内切酶消化，结果显示，其产生的α特异性片段比正常人的短4 kb。在血红蛋白H病中，仅观察到较短的片段，而在“静止型携带者”（α地中海贫血2特征）中，同时检测到正常片段和较短片段。一名在两条同源染色体上均存在单基因缺失的受试者（α地中海贫血1型）。还发现了一种非缺失型的α地中海贫血。
