title: A TaqI polymorphism in the human erythroid beta spectrin gene.
abstract: Human erythroid spectrin consists of an alpha beta 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 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, highlights the importance of this TaqI polymorphism in establishing linkage.
authors.affiliation: Department of Haematology, School of Pathology, University of the Witwatersrand, South Africa.
authors.forename: L
authors.initials: L
authors.lastname: Beeton
authors.forename: J T
authors.initials: JT
authors.lastname: Prchal
authors.forename: T L
authors.initials: TL
authors.lastname: Coetzer
mesh_terms: D000409:Alanine / Q000235:genetics; D004252:DNA Mutational Analysis; D015252:Deoxyribonucleases, Type II Site-Specific; D004612:Elliptocytosis, Hereditary / Q000235:genetics*; D005796:Genes; D005998:Glycine / Q000235:genetics; D006801:Humans; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D013049:Spectrin / Q000737:chemistry / Q000235:genetics*
chemical_list: D013049:Spectrin; D015252:Deoxyribonucleases, Type II Site-Specific; C027046:TCGA-specific type II deoxyribonucleases; D000409:Alanine; D005998:Glycine