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

S. Guida, B. Giglioni, P. Comi, S. Ottolenghi, C. Camaschella, G. Saglio

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)785-787
Number of pages3
JournalEMBO Journal
Volume3
Issue number4
Publication statusPublished - Apr 1984

Fingerprint

beta-Globins
Nonsense Codon
Codon
Genes
gamma-Globins
Globins
Mutation
Fetal Movement
Terminator Codon
beta-Thalassemia
Enzymes
Multigene Family
Delta-Beta Thalassemia
Cloning
Haplotypes
Polymorphism
Organism Cloning
Amino Acids
DNA
Defects

ASJC Scopus subject areas

  • Cell Biology
  • Genetics

Cite this

Guida, S., Giglioni, B., Comi, P., Ottolenghi, S., Camaschella, C., & Saglio, G. (1984). The beta-globin gene in Sardinian delta beta 0-thalassemia carries a C----T nonsense mutation at codon 39. EMBO Journal, 3(4), 785-787.

The beta-globin gene in Sardinian delta beta 0-thalassemia carries a C----T nonsense mutation at codon 39. / Guida, S.; Giglioni, B.; Comi, P.; Ottolenghi, S.; Camaschella, C.; Saglio, G.

In: EMBO Journal, Vol. 3, No. 4, 04.1984, p. 785-787.

Research output: Contribution to journalArticle

Guida, S, Giglioni, B, Comi, P, Ottolenghi, S, Camaschella, C & Saglio, G 1984, 'The beta-globin gene in Sardinian delta beta 0-thalassemia carries a C----T nonsense mutation at codon 39.', EMBO Journal, vol. 3, no. 4, pp. 785-787.
Guida, S. ; Giglioni, B. ; Comi, P. ; Ottolenghi, S. ; Camaschella, C. ; Saglio, G. / The beta-globin gene in Sardinian delta beta 0-thalassemia carries a C----T nonsense mutation at codon 39. In: EMBO Journal. 1984 ; Vol. 3, No. 4. pp. 785-787.
@article{ae3e433252934da99732c64baa78f930,
title = "The beta-globin gene in Sardinian delta beta 0-thalassemia carries a C----T nonsense mutation at codon 39.",
abstract = "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.",
author = "S. Guida and B. Giglioni and P. Comi and S. Ottolenghi and C. Camaschella and G. Saglio",
year = "1984",
month = "4",
language = "English",
volume = "3",
pages = "785--787",
journal = "EMBO Journal",
issn = "0261-4189",
publisher = "Nature Publishing Group",
number = "4",

}

TY - JOUR

T1 - The beta-globin gene in Sardinian delta beta 0-thalassemia carries a C----T nonsense mutation at codon 39.

AU - Guida, S.

AU - Giglioni, B.

AU - Comi, P.

AU - Ottolenghi, S.

AU - Camaschella, C.

AU - Saglio, G.

PY - 1984/4

Y1 - 1984/4

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0021414793&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0021414793&partnerID=8YFLogxK

M3 - Article

C2 - 6327288

AN - SCOPUS:0021414793

VL - 3

SP - 785

EP - 787

JO - EMBO Journal

JF - EMBO Journal

SN - 0261-4189

IS - 4

ER -