Open AccessMolecular basis for dominantly inherited inclusion body beta-thalassemia.
Author(s) -
Swee Lay Thein,
C Hesketh,
Paul Taylor,
I. J. Temperley,
Robert Hutchinson,
John Old,
W. G. Wood,
J. B. Clegg,
David Weatherall
Publication year - 1990
Publication title -
proceedings of the national academy of sciences of the united states of america
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.011
H-Index - 771
eISSN - 1091-6490
pISSN - 0027-8424
DOI - 10.1073/pnas.87.10.3924
Subject(s) - genetics , globin , biology , beta thalassemia , exon , beta (programming language) , heme , thalassemia , mutation , phenotype , gene , translation (biology) , biochemistry , enzyme , messenger rna , computer science , programming language
Analysis of the molecular basis of dominantly inherited beta-thalassemia in four families has revealed different mutations involving exon 3 of the beta-globin gene. It is suggested that the phenotypic difference between this condition and the more common recessive forms of beta-thalassemia lies mainly in the length and stability of the abnormal translation products that are synthesized and, in particular, whether they are capable of binding heme and producing aggregations that are relatively resistant to proteolytic degradation.