Literature DB >> 6273907

A common mutant EcoRI restriction endonuclease site in the 5' flanking portion of the human alpha-globin gene.

E Beutler, W Kuhl, C Johnson.   

Abstract

A mutant EcoRI endonuclease restriction site has been identified in 3 of 37 Black subjects and in 2 sibs of one of these persons. This mutation was not encountered in 13 Whites. It is located approximately 6 kilobases "inside" the normal site in the 5' flanking sequence of the alpha-globin chain complex. The shortened alpha-globin gene-bearing segment produced in the EcoRI digest produces a restriction map similar to that observed for the common alpha-globin gene deletion observed in the Black population. However, the restriction map with BamHI is normal, confirming that all four alpha loci are present.

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Year:  1981        PMID: 6273907      PMCID: PMC349193          DOI: 10.1073/pnas.78.11.7056

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN: 0027-8424            Impact factor:   11.205


  10 in total

1.  Gel electrophoresis of restriction fragments.

Authors:  E Southern
Journal:  Methods Enzymol       Date:  1979       Impact factor: 1.600

2.  alpha-Globin gene organisation in blacks precludes the severe form of alpha-thalassaemia.

Authors:  A M Dozy; Y W Kan; S H Embury; W C Mentzer; W C Wang; B Lubin; J R Davis; H M Koenig
Journal:  Nature       Date:  1979-08-16       Impact factor: 49.962

3.  Organization of the alpha-globin genes in the Chinese alpha-thalassemia syndromes.

Authors:  S H Embury; R V Lebo; A M Dozy; Y W Kan
Journal:  J Clin Invest       Date:  1979-06       Impact factor: 14.808

4.  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

5.  Triplicated alpha-globin loci in humans.

Authors:  M Goossens; A M Dozy; S H Embury; Z Zachariades; M G Hadjiminas; G Stamatoyannopoulos; Y W Kan
Journal:  Proc Natl Acad Sci U S A       Date:  1980-01       Impact factor: 11.205

6.  Two different molecular organizations account for the single alpha-globin gene of the alpha-thalassemia-2 genotype.

Authors:  S H Embury; J A Miller; A M Dozy; Y W Kan; V Chan; D Todd
Journal:  J Clin Invest       Date:  1980-12       Impact factor: 14.808

7.  A simplified method for studies of haemoglobin biosynthesis.

Authors:  C Tegos; E Beutler
Journal:  Clin Lab Haematol       Date:  1980

8.  Evolution of the hemoglobin S and C genes in world populations.

Authors:  Y W Kan; A M Dozy
Journal:  Science       Date:  1980-07-18       Impact factor: 47.728

9.  Polymorphism of DNA sequence in the beta-globin gene region. Application to prenatal diagnosis of beta 0 thalassemia in Sardinia.

Authors:  Y W Kan; K Y Lee; M Furbetta; A Angius; A Cao
Journal:  N Engl J Med       Date:  1980-01-24       Impact factor: 91.245

10.  A novel alpha-globin gene arrangement in man.

Authors:  D R Higgs; J M Old; L Pressley; J B Clegg; D J Weatherall
Journal:  Nature       Date:  1980-04-17       Impact factor: 49.962

  10 in total
  7 in total

1.  Detection of a restriction site polymorphism within the human alpha-globin gene complex.

Authors:  G Assum; E U Griese; J Horst
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

2.  Optimizing selection of restriction enzymes in the search for DNA variants.

Authors:  E M Wijsman
Journal:  Nucleic Acids Res       Date:  1984-12-11       Impact factor: 16.971

Review 3.  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 4.  DNA restriction fragment length polymorphisms and heterozygosity in the human genome.

Authors:  D N Cooper; J Schmidtke
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

5.  Association of two DNA polymorphisms in the alpha-globin gene cluster: implications for genetic analysis.

Authors:  J S Wainscoat; D R Higgs; E Kanavakis; A Cao; D Georgiou; J B Clegg; D J Weatherall
Journal:  Am J Hum Genet       Date:  1983-11       Impact factor: 11.025

6.  Utility and efficiency of linked marker genes for genetic counseling. III. Proportion of informative families under linkage disequilibrium.

Authors:  A Chakravarti
Journal:  Am J Hum Genet       Date:  1983-07       Impact factor: 11.025

7.  Detection of a new hybrid alpha 2 globin gene among American blacks.

Authors:  Y C Gu; T Nakatsuji; T H Huisman
Journal:  Hum Genet       Date:  1988-05       Impact factor: 4.132

  7 in total

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