Kulozik A E, Thein S L, Kar B C, Wainscoat J S, Serjeant G R, Weatherall D J
Nuffield Dept. Med., John Radcliffe Hospital, Oxford, England.
Prog Clin Biol Res. 1987;251:427-39.
A haplotype of restriction fragment length polymorphisms in the beta S globin gene cluster was determined in six different African and Asian ethnic groups with sickle cell disease. The geographical distribution of a particular haplotype, designated Asian beta S haplotype, coincides with the occurrence of raised Hb F levels in sickle cell disease. Detailed hematologic and genetic studies of a large geographically isolated group of Orissan Indian patients with sickle cell disease and a mixed Asian Indian group with homozygous beta thalassemia provided evidence that the determinant responsible for raised Hb F levels is linked to the beta globin gene cluster. The possible nature of this determinant is discussed.
在六个患有镰状细胞病的不同非洲和亚洲种族群体中，确定了βS珠蛋白基因簇中限制性片段长度多态性的单倍型。一种特定的单倍型，即亚洲βS单倍型的地理分布，与镰状细胞病中Hb F水平升高的情况相吻合。对一大群地理上隔离的奥里萨邦印度镰状细胞病患者以及患有纯合β地中海贫血的混合亚洲印度人群体进行的详细血液学和遗传学研究表明，导致Hb F水平升高的决定因素与β珠蛋白基因簇相关。本文讨论了该决定因素可能的性质。
