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Literature DB >> 461203

The structure of the human beta-globin gene in beta-thalassaemia.

R A Flavell, R Bernards, J M Kooter, E de Boer, P F Little, G Annison, R Williamson.

Abstract

Twenty-one cases of beta 0 and beta +-thalassaemia have been analysed by restriction endonuclease mapping. In most cases no deletion in the regions surrounding the beta- and delta-globin genes could be detected. However, in a single Asian case of beta 0-thalassaemia, homozygous clinically, one of the homologous chromosomes contained a beta-globin gene with a deletion of 600 base pairs of DNA and comprising most or all of the 3' end of the structural gene including the EcoRI restriction site within the beta-globin coding sequence.

Entities: Disease Gene Species

Mesh：

Substances：

Year: 1979 PMID： 461203 PMCID： PMC327890 DOI： 10.1093/nar/6.8.2749

Source DB: PubMed Journal: Nucleic Acids Res ISSN： 0305-1048 Impact factor: 16.971

22 in total

1. Transcriptional and post-transcriptional defects in beta0-thalassaemia.

Authors: P Comi; B Giglioni; L Barbarano; S Ottolenghi; R Williamson; M Novakova; G Masera
Journal: Eur J Biochem Date: 1977-10-03

2. Antenatal diagnosis of sickle-cell anaemia by D.N.A. analysis of amniotic-fluid cells.

Authors: Y W Kan; A M Dozy
Journal: Lancet Date: 1978-10-28 Impact factor: 79.321

3. Organization of human delta--and beta-globin genes in cellular DNA and the presence of intragenic inserts.

Authors: J G Mears; F Ramirez; D Leibowitz; A Bank
Journal: Cell Date: 1978-09 Impact factor: 41.582

4. Analysis of the beta-delta-globin gene loci in normal and Hb Lepore DNA: direct determination of gene linkage and intergene distance.

Authors: R A Flavell; J M Kooter; E De Boer; P F Little; R Williamson
Journal: Cell Date: 1978-09 Impact factor: 41.582

5. A physical map of the DNA regions flanking the rabbit beta-globin gene.

Authors: A J Jeffreys; R A Flavell
Journal: Cell Date: 1977-10 Impact factor: 41.582

6. The isolation and characterization of linked delta- and beta-globin genes from a cloned library of human DNA.

Authors: R M Lawn; E F Fritsch; R C Parker; G Blake; T Maniatis
Journal: Cell Date: 1978-12 Impact factor: 41.582

7. Isolation and partial sequence of recombinant plasmids containing human alpha-, beta- and gamma-globin cDNA fragments.

Authors: P Little; P Curtis; C Coutelle; J Van den Berg; R Dalgleish; S Malcolm; M Courtney; D Westaway; R Williamson
Journal: Nature Date: 1978-06-22 Impact factor: 49.962

8. Characterization of beta-globin mRNA in the beta0 thalassemias.

Authors: J M Old; N J Proudfoot; W G Wood; J I Longley; J B Clegg; D J Weatherall
Journal: Cell Date: 1978-06 Impact factor: 41.582

9. Variability in the amount of beta-globin mRNA in beta0 thalassemia.

Authors: E J Benz; B G Forget; D G Hillman; M Cohen-Solal; J Pritchard; C Cavallesco; W Prensky; D Housman
Journal: Cell Date: 1978-06 Impact factor: 41.582

10. Application of endonuclease mapping to the analysis and prenatal diagnosis of thalassemias caused by globin-gene deletion.

Authors: S H Orkin; B P Alter; C Altay; M J Mahoney; H Lazarus; J C Hobbins; D G Nathan
Journal: N Engl J Med Date: 1978-07-27 Impact factor: 91.245

21 in total

1. beta-Thalassemia present in cis to a new beta-chain structural variant, Hb Vicksburg [beta 75 (E19)Leu leads to 0].

Authors: J G Adams; M H Steinberg; M V Newman; W T Morrison; E J Benz; R Iyer
Journal: Proc Natl Acad Sci U S A Date: 1981-01 Impact factor: 11.205

2. Different 3' end points of deletions causing delta beta-thalassemia and hereditary persistence of fetal hemoglobin: implications for the control of gamma-globin gene expression in man.

Authors: D Tuan; E Feingold; M Newman; S M Weissman; B G Forget
Journal: Proc Natl Acad Sci U S A Date: 1983-11 Impact factor: 11.205

The structure of the human beta-globin gene in beta-thalassaemia.

1. Transcriptional and post-transcriptional defects in beta0-thalassaemia.

2. Antenatal diagnosis of sickle-cell anaemia by D.N.A. analysis of amniotic-fluid cells.

3. Organization of human delta--and beta-globin genes in cellular DNA and the presence of intragenic inserts.

4. Analysis of the beta-delta-globin gene loci in normal and Hb Lepore DNA: direct determination of gene linkage and intergene distance.

5. A physical map of the DNA regions flanking the rabbit beta-globin gene.

6. The isolation and characterization of linked delta- and beta-globin genes from a cloned library of human DNA.

7. Isolation and partial sequence of recombinant plasmids containing human alpha-, beta- and gamma-globin cDNA fragments.

8. Characterization of beta-globin mRNA in the beta0 thalassemias.

9. Variability in the amount of beta-globin mRNA in beta0 thalassemia.

10. Application of endonuclease mapping to the analysis and prenatal diagnosis of thalassemias caused by globin-gene deletion.

1. beta-Thalassemia present in cis to a new beta-chain structural variant, Hb Vicksburg [beta 75 (E19)Leu leads to 0].

2. Different 3' end points of deletions causing delta beta-thalassemia and hereditary persistence of fetal hemoglobin: implications for the control of gamma-globin gene expression in man.

3. Structure and expression of a cloned beta o thalassaemic globin gene.

4. Two cloned beta thalassemia genes are associated with amber mutations at codon 39.

5. A new polymorphism in the human beta-globin gene useful in antenatal diagnosis.

6. An intron nucleotide sequence variant in a cloned beta +-thalassaemia globin gene.

7. Cloning and direct examination of a structurally abnormal human beta 0-thalassemia globin gene.

Review 8. The thalassemias: molecular mechanisms of human genetic disease.

9. Abnormal splice in a mutant human beta-globin gene not at the site of a mutation.

Review 10. The molecular basis of disorders of human hemoglobin synthesis.