δβ-Thalassemia is due to a gene deletion
δβ-Thalassemia is due to a gene deletion
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δβ-地中海贫血是由于基因缺失造成的
DOI：
10.1016/0092-8674(76)90053-2
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发表时间：
1976
期刊：
影响因子：
64.5
通讯作者：
D. J. Weatherall
中科院分区：
文献类型：
--
作者：
S. Ottolenghi;P. Comi;B. Giglioni;P. Tolstoshev;W. Lanyon;G. J. Mitchell;Robert Williamson;Giulia Russo;Salvatore Musumeci;Gino Schilirò;G. Tsistrakis;S. Charache;W. G. Wood;J. B. Clegg;D. J. Weatherall
DNA是从三名西西里岛人和一名希腊SD-地中海贫血纯合子的外周血液或培养的皮肤成纤维细胞中提取的。用cDNAP探针进行珠蛋白基因分析，结果表明S/3-地中海贫血是由8-珠蛋白基因缺失引起的。用培养的皮肤成纤维细胞制备的DNA也得到了类似的结果，该DNA来自于遗传性胎儿血红蛋白(HPFH)的黑人形式纯合子个体。在这两种情况下，缺失都避免了指向血红蛋白F的y链的GY和*y基因座，但尚不可能证明导致S/3-地中海贫血的缺失的大小与导致HPFH的缺失有何不同。这些实验提供了进一步的直接证据，证明y-8-p基因簇关键区域的缺失会导致成年后持续的y链合成。
DNA has been prepared from peripheral blood or cultured skin fibroblasts obtained from three Sicilian and one Greek SD-thalassemia homozygotes. Globin-gene analysis was carried out using a cDNAp probe, and the results indicate that S/3-thalassemia has arisen from a deletion of the, 8-globin genes. A similar result was obtained using DNA prepared from cultured skin fibroblasts from an individual homozygous for the Negro form of hereditary persistence of fetal hemoglobin(HPFH). In both cases, the deletion has spared the Gy and* y loci directing the y chains of hemoglobin F, but it has not been possible to demonstrate any difference between the size of the deletion involved in the production of S/3-thalassemia and that which gave rise to HPFH. These experiments provide further direct evidence that deletions of critical areas of the y-8-p gene cluster result in persistent y chain synthesis in adult life.