Literature DB >> 468997

Deletion of the A gamma-globin gene in G gamma-delta beta-thalassemia.

S H Orkin, B P Alter, C Altay.   

Abstract

In an individual homozygous for G gamma-delta beta-thalassemia, a physical alteration in gamma-globin gene organization was detected by restriction enzyme mapping. The data indicated that the absence of A gamma-globin chains resulted from extension of the DNA deletion from the delta beta-globin gene region into the gamma-globin gene region rather than a functional disturbance of gamma-gene expression.

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Year:  1979        PMID： 468997      PMCID： PMC372193          DOI： 10.1172/JCI109535

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


  19 in total

Review 1.  Regulation of hemoglobin synthesis during the development of the red cell. (Second of three parts).

Authors:  A W Nienhuis; E J Benz
Journal:  N Engl J Med       Date:  1977-12-22       Impact factor: 91.245

2.  Restriction endonuclease mapping of the human gamma globin gene loci.

Authors:  D Tuan; P A Biro; J K deRiel; H Lazarus; B G Forget
Journal:  Nucleic Acids Res       Date:  1979-06-11       Impact factor: 16.971

3.  The duplicated human alpha globin genes lie close together in cellular DNA.

Authors:  S H Orkin
Journal:  Proc Natl Acad Sci U S A       Date:  1978-12       Impact factor: 11.205

4.  Structure of the human fetal globin gene locus.

Authors:  P F Little; R A Flavell; J M Kooter; G Annison; R Williamson
Journal:  Nature       Date:  1979-03-15       Impact factor: 49.962

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 molecular basis of alpha-thalassemias: frequent occurrence of dysfunctional alpha loci among non-Asians with Hb H disease.

Authors:  S H Orkin; J Old; H Lazarus; C Altay; A Gurgey; D J Weatherall; D G Nathan
Journal:  Cell       Date:  1979-05       Impact factor: 41.582

7.  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

8.  Delta-beta-thalassemia is due to a gene deletion.

Authors:  S Ottolenghi; P Comi; B Giglioni; P Tolstoshev; W G Lanyon; G J Mitchell; R Williamson; G Russo; S Musumeci; G Schillro; G A Tsistrakis; S Charache; W G Wood; J B Clegg; D J Weatherall
Journal:  Cell       Date:  1976-09       Impact factor: 41.582

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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  11 in total

1.  A Chinese G gamma + (A gamma delta beta)zero thalassemia deletion: comparison to other deletions in the human beta-globin gene cluster and sequence analysis of the breakpoints.

Authors:  D L Mager; P S Henthorn; O Smithies
Journal:  Nucleic Acids Res       Date:  1985-09-25       Impact factor: 16.971

2.  Heterogeneity of DNA deletion in gamma delta beta-thalassemia.

Authors:  S H Orkin; S C Goff; D G Nathan
Journal:  J Clin Invest       Date:  1981-03       Impact factor: 14.808

3.  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

Review 4.  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

5.  Restriction mapping of a new deletion responsible for G gamma (delta beta)o thalassemia.

Authors:  R W Jones; J M Old; R J Trent; J B Clegg; D J Weatherall
Journal:  Nucleic Acids Res       Date:  1981-12-21       Impact factor: 16.971

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

Authors:  S H Orkin; R Kolodner; A Michelson; R Husson
Journal:  Proc Natl Acad Sci U S A       Date:  1980-06       Impact factor: 11.205

Review 7.  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

8.  Genome-wide analysis of copy number variants in age-related macular degeneration.

Authors:  Kacie J Meyer; Lea K Davis; Emily I Schindler; John S Beck; Danielle S Rudd; A Jason Grundstad; Todd E Scheetz; Terry A Braun; John H Fingert; Wallace L Alward; Young H Kwon; James C Folk; Stephen R Russell; Thomas H Wassink; Edwin M Stone; Val C Sheffield
Journal:  Hum Genet       Date:  2010-10-28       Impact factor: 4.132

Review 9.  The molecular basis of disorders of human hemoglobin synthesis.

Authors:  F Ramirez; J G Mears; A Bank
Journal:  Mol Cell Biochem       Date:  1980-08-16       Impact factor: 3.396

10.  Molecular characterization of a novel form of (A gamma delta beta)zero-thalassemia deletion with a 3' breakpoint close to those of HPFH-3 and HPFH-4: insights for a common regulatory mechanism.

Authors:  N P Anagnou; T Papayannopoulou; A W Nienhuis; G Stamatoyannopoulos
Journal:  Nucleic Acids Res       Date:  1988-07-11       Impact factor: 16.971
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