Literature DB >> 6162860

Heterogeneity of DNA deletion in gamma delta beta-thalassemia.

S H Orkin, S C Goff, D G Nathan.   

Abstract

By restriction endonuclease mapping, gene cloning, and DNA sequencing we have determined the region of DNA that is deleted in a family with gamma delta beta-thalassemia. The deletion removes the linked epsilon, gamma-, and delta-globin structural genes and terminates within the coding portion of the beta-globin gene. Since the extent of DNA deletion in this family differs from that reported in another family, we conclude that gamma delta beta-thalassemia is heterogeneous at the molecular level.

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Year:  1981        PMID: 6162860      PMCID: PMC370639          DOI: 10.1172/jci110105

Source DB:  PubMed          Journal:  J Clin Invest        ISSN: 0021-9738            Impact factor:   14.808


  22 in total

1.  A new method for sequencing DNA.

Authors:  A M Maxam; W Gilbert
Journal:  Proc Natl Acad Sci U S A       Date:  1977-02       Impact factor: 11.205

2.  Screening lambdagt recombinant clones by hybridization to single plaques in situ.

Authors:  W D Benton; R W Davis
Journal:  Science       Date:  1977-04-08       Impact factor: 47.728

3.  Globin gene deletion in HPFH, delta (o) beta (o) thalassaemia and Hb Lepore disease.

Authors:  S Ottolenghi; B Giglioni; P Comi; A M Gianni; E Polli; C T Acquaye; J H Oldham; G Masera
Journal:  Nature       Date:  1979-04-12       Impact factor: 49.962

4.  Gamma-beta thalassemia: a cause of hemolytic disease of the newborn.

Authors:  Y W Kan; B G Forget; D G Nathan
Journal:  N Engl J Med       Date:  1972-01-20       Impact factor: 91.245

5.  Charon phages: safer derivatives of bacteriophage lambda for DNA cloning.

Authors:  F R Blattner; B G Williams; A E Blechl; K Denniston-Thompson; H E Faber; L Furlong; D J Grunwald; D O Kiefer; D D Moore; J W Schumm; E L Sheldon; O Smithies
Journal:  Science       Date:  1977-04-08       Impact factor: 47.728

6.  Cloning human fetal gamma globin and mouse alpha-type globin DNA: preparation and screening of shotgun collections.

Authors:  F R Blattner; A E Blechl; K Denniston-Thompson; H E Faber; J E Richards; J L Slightom; P W Tucker; O Smithies
Journal:  Science       Date:  1978-12-22       Impact factor: 47.728

7.  Partial deletion of beta-globin gene DNA in certain patients with beta 0-thalassemia.

Authors:  S H Orkin; J M Old; D J Weatherall; D G Nathan
Journal:  Proc Natl Acad Sci U S A       Date:  1979-05       Impact factor: 11.205

8.  Characterisation of deletions which affect the expression of fetal globin genes in man.

Authors:  E F Fritsch; R M Lawn; T Maniatis
Journal:  Nature       Date:  1979-06-14       Impact factor: 49.962

9.  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

10.  Changes in restricted human cellular DNA fragments containing globin gene sequences in thalassemias and related disorders.

Authors:  J G Mears; F Ramirez; D Leibowitz; F Nakamura; A Bloom; F Konotey-Ahulu; A Bank
Journal:  Proc Natl Acad Sci U S A       Date:  1978-03       Impact factor: 11.205

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  10 in total

Review 1.  Developmental genetics of the human haemoglobins.

Authors:  W G Wood; D J Weatherall
Journal:  Biochem J       Date:  1983-10-01       Impact factor: 3.857

Review 2.  DNA polymorphism and molecular pathology of the human globin gene clusters.

Authors:  S E Antonarakis; H H Kazazian; S H Orkin
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

Review 3.  The thalassemias: molecular mechanisms of human genetic disease.

Authors:  R A Spritz; B G Forget
Journal:  Am J Hum Genet       Date:  1983-05       Impact factor: 11.025

Review 4.  Erythrocyte disorders in the perinatal period.

Authors:  Laurie A Steiner; Patrick G Gallagher
Journal:  Semin Perinatol       Date:  2007-08       Impact factor: 3.300

5.  Analysis of an inversion within the human beta globin gene cluster.

Authors:  M W Jennings; R W Jones; W G Wood; D J Weatherall
Journal:  Nucleic Acids Res       Date:  1985-04-25       Impact factor: 16.971

6.  A distant gene deletion affects beta-globin gene function in an atypical gamma delta beta-thalassemia.

Authors:  P Curtin; M Pirastu; Y W Kan; J A Gobert-Jones; A D Stephens; H Lehmann
Journal:  J Clin Invest       Date:  1985-10       Impact factor: 14.808

Review 7.  Thalassemic hemoglobinopathies.

Authors:  M H Steinberg; J G Adams
Journal:  Am J Pathol       Date:  1983-12       Impact factor: 4.307

8.  Hemolytic disease of the newborn caused by a new deletion of the entire beta-globin cluster.

Authors:  M Pirastu; Y W Kan; C C Lin; R M Baine; C T Holbrook
Journal:  J Clin Invest       Date:  1983-08       Impact factor: 14.808

9.  beta zero thalassemia in Sardinia is caused by a nonsense mutation.

Authors:  R F Trecartin; S A Liebhaber; J C Chang; K Y Lee; Y W Kan; M Furbetta; A Angius; A Cao
Journal:  J Clin Invest       Date:  1981-10       Impact factor: 14.808

10.  Gamma delta beta-thalassemia due to a de novo mutation deleting the 5' beta-globin gene activation-region hypersensitive sites.

Authors:  M C Driscoll; C S Dobkin; B P Alter
Journal:  Proc Natl Acad Sci U S A       Date:  1989-10       Impact factor: 11.205

  10 in total

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