Direct Demonstration of the hb Suan-Dok Mutation in the Q2-Globin Gene by Restriction Analysis with Sma I

Abstract

Hb Suan-Dok [α2 109 (G16) Leu↣Argβ2] has an α-thalassemia-like effect due to low production and instability of the altered α-globin chain. Since the Hb Suan-Dok mutation (CTG->CGG) creates a new Sma I restriction site, it was possible to diagnose the mutation by restriction analysis. the location in the α2-globin gene was confirmed. the distribution of α-globin gene anomalies and a β-thalassemia gene in the original family, deduced from examinations at the protein level, was verified by DNA analysis.