Kioussis D, Vanin E, deLange T, Flavell R A, Grosveld F G
Nature. 1983;306(5944):662-6. doi: 10.1038/306662a0.
The beta-globin gene present on the deletion locus in a Dutch gamma beta-thalassaemic patient was found to be identical to the normal beta-globin gene with respect to DNA sequence and its transcription in HeLa cells. DNase I sensitivity and methylation experiments show that the affected beta-globin gene is present in an inactive configuration in vivo. This is the result of a translocation of a normally inactive locus next to the beta-globin gene on the affected chromosome, or the deletion of sequences which are normally required for the maintenance of the active state.
在一名荷兰γβ地中海贫血患者的缺失位点上发现的β珠蛋白基因，就DNA序列及其在HeLa细胞中的转录而言，与正常的β珠蛋白基因相同。DNase I敏感性和甲基化实验表明，受影响的β珠蛋白基因在体内以无活性的形式存在。这是由于正常无活性的基因座易位到受影响染色体上β珠蛋白基因旁边，或者缺失了维持活性状态通常所需的序列所致。
