el-Hazmi M A, Bahakim H M, Warsy A S
College of Medicine & King Kahlid University Hospital, Riyadh, Saudi Arabia.
Acta Haematol. 1992;88(2-3):61-6. doi: 10.1159/000204653.
Significant DNA polymorphisms have been reported in the beta-globin gene cluster of epsilon-G gamma-A gamma-psi beta-delta-beta-gene region, in normal (Hb AA) individuals and in patients with sickle cell anaemia (SCA). Investigations of the extent of the DNA polymorphisms in the beta A- and beta S-globin gene cluster using Hind III, Hinc II, Ava II, Xmn I, and Hpa I, revealed several associations with mild SCA. The correlation of the presence (+) or absence (-) of the restriction endonuclease site to clinical severity in patients homozygous for beta S-gene showed that the mild form of SCA was associated mainly (> 90%) with the Xmn I polymorphic site 5' to G gamma, and to a lesser extent with Hinc II polymorphic site 5' to epsilon and in the psi beta-gene, with Hind III polymorphic site in G gamma and Hpa I polymorphic site 3' to the beta-globin gene, while in the severe form of SCA these polymorphic sites were absent in most patients. The polymorphism in the beta-globin gene cluster was significantly related to the expression of the beta S-gene and clinical severity of SCA.
在正常（Hb AA）个体和镰状细胞贫血（SCA）患者的ε-Gγ-Aγ-ψβ-δ-β基因区域的β-珠蛋白基因簇中，已报道了显著的DNA多态性。使用Hind III、Hinc II、Ava II、Xmn I和Hpa I对βA-和βS-珠蛋白基因簇中DNA多态性程度的研究，揭示了与轻度SCA的几种关联。βS基因纯合患者中限制性内切酶位点的存在（+）或缺失（-）与临床严重程度的相关性表明，轻度SCA主要（>90%）与Gγ 5'端的Xmn I多态性位点相关，在较小程度上与ε 5'端的Hinc II多态性位点以及ψβ基因中的该位点相关，与Gγ中的Hind III多态性位点以及β-珠蛋白基因3'端的Hpa I多态性位点相关，而在重度SCA患者中，这些多态性位点在大多数患者中不存在。β-珠蛋白基因簇中的多态性与βS基因的表达和SCA的临床严重程度显著相关。
