Document Detail


A TaqI polymorphism in the human erythroid beta spectrin gene.
MedLine Citation:
PMID:  7868137     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
L Beeton; J T Prchal; T L Coetzer
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human genetics     Volume:  95     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  1995 Mar 
Date Detail:
Created Date:  1995-03-24     Completed Date:  1995-03-24     Revised Date:  2008-08-29    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  365-6     Citation Subset:  IM    
Affiliation:
Department of Haematology, School of Pathology, University of the Witwatersrand, South Africa.
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MeSH Terms
Descriptor/Qualifier:
Alanine / genetics
DNA Mutational Analysis
Deoxyribonucleases, Type II Site-Specific
Elliptocytosis, Hereditary / genetics*
Genes
Glycine / genetics
Humans
Point Mutation
Polymorphism, Restriction Fragment Length
Spectrin / chemistry,  genetics*
Chemical
Reg. No./Substance:
12634-43-4/Spectrin; 56-40-6/Glycine; 56-41-7/Alanine; EC 3.1.21.4/Deoxyribonucleases, Type II Site-Specific; EC 3.1.21.4/TCGA-specific type II deoxyribonucleases

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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