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The polyadenylation site mutation in the alpha-globin gene cluster

Authors :
Thein, SL
Wallace, RB
Pressley, L
Clegg, JB
Weatherall, DJ
Higgs, DR
Source :
Blood; February 1988, Vol. 71 Issue: 2 p313-319, 7p
Publication Year :
1988

Abstract

In a previous study, we described a form of nondeletion alpha- thalassemia (alpha T Saudi alpha) found in subjects of Saudi Arabian origin. In the current study, using synthetic oligoprobe hybridization and restriction enzyme analysis, we have demonstrated that the molecular basis of alpha T Saudi alpha is due solely to a single base mutation (AATAAA----AATAAG) in the polyadenylation signal of the alpha 2 gene and that the frameshift mutation in codon 14 of the linked alpha 1 gene is the result of a cloning artefact. The alpha 2 polyadenylation signal mutation occurs in other Middle Eastern and the Mediterranean populations and is responsible for the clinical phenotype of Hb H disease in some Saudi Arabian individuals with five alpha genes (alpha T Saudi alpha/(alpha alpha alpha)T Saudi). Evidence suggests that the (alpha alpha alpha)T Saudi haplotype has arisen as a result of a recombination between two misaligned chromosomes bearing the alpha T Saudi alpha defect.

Details

Language :
English
ISSN :
00064971 and 15280020
Volume :
71
Issue :
2
Database :
Supplemental Index
Journal :
Blood
Publication Type :
Periodical
Accession number :
ejs52895926
Full Text :
https://doi.org/10.1182/blood.V71.2.313.313