A TAQI POLYMORPHISM IN THE HUMAN ERYTHROID BETA-SPECTRIN GENE

Human erythroid spectrin consists of an alpha beta heterodimer. Abnorm alities of spectrin are a common cause of hereditary haemolytic anaemi as such as hereditary elliptocytosis (HE) and hereditary spherocytosis (HS). To identify the spectrin gene mutation one needs initially to e stablish which of the spectrin subunits is defective. For this purpose , the beta spectrin restriction fragment length polymorphism (RFLP) we describe here will be useful in linkage analysis. The elucidation of an Ala-->Gly beta spectrin gene mutation in a family with HE, highligh ts the importance of this TaqI polymorphism in establishing linkage.