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The beta‐globin gene in Sardinian delta beta 0‐thalassemia carries a C–‐T nonsense mutation at codon 39.
Author(s) -
Guida S.,
Giglioni B.,
Comi P.,
Ottolenghi S.,
Camaschella C.,
Saglio G.
Publication year - 1984
Publication title -
the embo journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 7.484
H-Index - 392
eISSN - 1460-2075
pISSN - 0261-4189
DOI - 10.1002/j.1460-2075.1984.tb01885.x
Subject(s) - nonsense , biology , genetics , gene , nonsense mutation , beta (programming language) , globin , mutation , nonsense mediated decay , missense mutation , rna , computer science , programming language , rna splicing
Sardinian delta beta 0‐thalassemia is an inherited syndrome characterized by the inactivity of the beta‐globin gene and the persistent activity of the fetal gamma‐globin genes, particularly the A gamma‐globin gene. Previous mapping studies with restriction enzymes failed to show any abnormality in the non‐alpha globin gene cluster. We have now examined the possibility that this syndrome might result from a single rather than two different defects. Restriction enzyme polymorphisms linked to the delta beta 0‐thalassemic non‐alpha globin fragments were defined providing the basis for cloning the delta beta 0‐thalassemic beta‐globin gene from the DNA of a heterozygous patient. This gene appears to carry a C–‐T single mutation causing the appearance of a stop codon at amino acid position 39 of the beta‐globin gene. This mutation was previously reported in beta 0‐thalassemic patients, in linkage with different haplotypes. We conclude that Sardinian delta beta 0‐thalassemia is the result of two separate mutations, the former one (unknown) responsible for persistent expression of gamma‐globin genes, the latter for beta 0‐thalassemia.