Driscoll M C, Baird M, Bank A, Rachmilewitz E A
J Clin Invest. 1981 Oct;68(4):915-9. doi: 10.1172/jci110346.
A new polymorphism in the beta-globin is described, using the restriction enzyme Asu I. A radioactive probe specifically representing the large intervening sequence (IVS 2) of the beta-globin gene has been used to detect this polymorphism. Normally, a 0.8-kilobase fragment containing beta-IVS 2 is generated by Asu I; however, a 1.0-kilobase fragment is seen in association with 18% of beta A-genes, and 38% of beta-thalassemia genes in an Israeli population studied. By contrast, the Asu I polymorphism has rarely been seen in blacks examined to date. An additional Asu I change is seen the the delta-globin gene with a delta-IVS probe. The beta-Asu I polymorphism is shown to be useful in the antenatal diagnosis of beta-thalassemia.
利用限制性内切酶阿苏I（Asu I），描述了β-珠蛋白中的一种新的多态性。一种特异性代表β-珠蛋白基因大间隔序列（IVS 2）的放射性探针已被用于检测这种多态性。正常情况下，阿苏I会产生一个包含β-IVS 2的0.8千碱基片段；然而，在一个以色列人群中研究发现，18%的βA基因和38%的β地中海贫血基因会出现一个1.0千碱基片段。相比之下，迄今为止在接受检测的黑人中很少见到阿苏I多态性。使用δ-IVS探针在δ-珠蛋白基因中还发现了另一种阿苏I变化。β-阿苏I多态性被证明在β地中海贫血的产前诊断中有用。
