Henthorn P S, Smithies O, Nakatsuji T, Felice A E, Gardiner M B, Reese A L, Huisman T H
Br J Haematol. 1985 Feb;59(2):343-56. doi: 10.1111/j.1365-2141.1985.tb02999.x.
DNA from members of 10 Black families with conditions considered to be G gamma (delta beta)0-thalassaemia or G gamma (delta beta)0-HPFH were studied by using restriction enzyme analysis. One or more affected members from each family were shown to have the same deletion of 34 kbp of DNA in the human beta-globin gene cluster. A clone spanning the deletion was isolated from the DNA of one such person and studied in detail. The deletion removed part of the A gamma and all of the psi beta, delta and beta-globin genes and is different from the four previously identified deletions which caused a condition presently known as (A gamma delta beta)0-thalassaemia.
运用限制性内切酶分析法，对10个患有被认为是Gγ（δβ）0-地中海贫血或Gγ（δβ）0-HPFH病症的黑人家庭的成员进行了DNA研究。结果显示，每个家庭中一个或多个患病成员在人类β-珠蛋白基因簇中存在相同的34kbp DNA缺失。从其中一位患者的DNA中分离出了一个跨越该缺失区域的克隆，并进行了详细研究。该缺失区域移除了部分Aγ基因以及所有的ψβ、δ和β-珠蛋白基因，且与先前鉴定出的四种导致目前被称为（Aγδβ）0-地中海贫血病症的缺失不同。
