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( A γδβ)° thalassaemia: similarity of phenotype in four different molecular defects, including one newly described
Author(s) -
Trent R. J.,
Jones R. W.,
Clegg J. B.,
Weatherall D. J.,
Davidson R.,
Wood W. G.
Publication year - 1984
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1984.tb02897.x
Subject(s) - phenotype , genetics , gene , biology , similarity (geometry) , hemoglobinopathy , microbiology and biotechnology , hemolytic anemia , artificial intelligence , computer science , immunology , image (mathematics)
S ummary. Globin gene mapping of DNA from families with ( A γδβ)° thalassaemia has revealed a previously unreported gene deletion responsible for this condition. The deletion removes the A γ, δ and β genes and while its 5’ end is in a similar position to that described in a previous deletion of this type, the 3’ ends of the two deletions are quite different. In addition we have observed further examples of two other previously described deletions which result in this disorder. Phenotypic comparisons of families with ( A γδβ)° thalassaemia, in which the molecular basis has been defined, show a remarkable similarity among the four different deletion defects, with important implications with regard to the mechanism by which deletions allow the continued expression of γ genes.