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The beta-globin gene in Sardinian delta beta 0-thalassemia carries a C--T nonsense mutation at codon 39.

1984; Springer Nature; Volume: 3; Issue: 4 Linguagem: Inglês

10.1002/j.1460-2075.1984.tb01885.x

1460-2075

S. Di Guida, Barbára Giglioni, Paola Comi, Sergio Ottolenghi, Clara Camaschella, Giuseppe Saglio,

Neonatal Health and Biochemistry

Research Article1 April 1984free access The beta-globin gene in Sardinian delta beta 0-thalassemia carries a C–-T nonsense mutation at codon 39. S. Guida S. Guida Search for more papers by this author B. Giglioni B. Giglioni Search for more papers by this author P. Comi P. Comi Search for more papers by this author S. Ottolenghi S. Ottolenghi Search for more papers by this author C. Camaschella C. Camaschella Search for more papers by this author G. Saglio G. Saglio Search for more papers by this author S. Guida S. Guida Search for more papers by this author B. Giglioni B. Giglioni Search for more papers by this author P. Comi P. Comi Search for more papers by this author S. Ottolenghi S. Ottolenghi Search for more papers by this author C. Camaschella C. Camaschella Search for more papers by this author G. Saglio G. Saglio Search for more papers by this author Author Information S. Guida, B. Giglioni, P. Comi, S. Ottolenghi, C. Camaschella and G. Saglio The EMBO Journal (1984)3:785-787https://doi.org/10.1002/j.1460-2075.1984.tb01885.x PDFDownload PDF of article text and main figures. ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinked InMendeleyWechatReddit Figures & Info 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. Previous ArticleNext Article Volume 3Issue 41 April 1984In this issue RelatedDetailsLoading ...