A TaqI polymorphism in the human erythroid β spectrin gene

Human erythroid spectrin consists of an αβ heterodimer. Abnormalities of spectrin are a common cause of hereditary haemolytic anaemias such as hereditary elliptocytosis (HE) and hereditary spherocytosis (HS). To identify the spectrin gene mutation one needs initially to establish which of the spectrin subunits is defective. For this purpose, the β spectrin restriction fragment length polymorphism (RFLP) we describe here will be useful in linkage analysis. The elucidation of an Ala→Gly β spectrin gene mutation in a family with HE, highlights the importance of this TaqI polymorphism in establishing linkage.