Literature DB >> 6324932

Hemoglobin Köln: analysis of linkage relationships between the mutant gene and polymorphic restriction sites in the beta-globin gene cluster.

J Horst, R Oehme, E Kleihauer, E Kohne.   

Abstract

Nuclear DNA has been analyzed by means of restriction endonuclease mapping procedure to identify chromosomes that carry mutant Hb Köln beta-globin genes in a family with individuals heterozygous for this disease. Inherited DNA polymorphisms within the beta-globin gene cluster yielded a direct linkage of the Hb Köln mutation to haplotype constellations that are diagnostic for further offspring.

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Year:  1984        PMID： 6324932     DOI： 10.1007/bf00319812

Source DB:  PubMed          Journal:  Blut        ISSN： 0006-5242


  21 in total

1.  Detection of specific sequences among DNA fragments separated by gel electrophoresis.

Authors:  E M Southern
Journal:  J Mol Biol       Date:  1975-11-05       Impact factor: 5.469

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

Authors:  R A Flavell; R Bernards; J M Kooter; E de Boer; P F Little; G Annison; R Williamson
Journal:  Nucleic Acids Res       Date:  1979-06-25       Impact factor: 16.971

3.  Studies of hemoglobin denaturation and Heinz body formation in the unstable hemoglobins.

Authors:  C C Winterbourn; R W Carrell
Journal:  J Clin Invest       Date:  1974-09       Impact factor: 14.808

4.  A sensitive new prenatal test for sickle-cell anemia.

Authors:  J C Chang; Y W Kan
Journal:  N Engl J Med       Date:  1982-07-01       Impact factor: 91.245

5.  Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster.

Authors:  S E Antonarakis; C D Boehm; P J Giardina; H H Kazazian
Journal:  Proc Natl Acad Sci U S A       Date:  1982-01       Impact factor: 11.205

6.  Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.

Authors:  S H Orkin; H H Kazazian; S E Antonarakis; S C Goff; C D Boehm; J P Sexton; P G Waber; P J Giardina
Journal:  Nature       Date:  1982-04-15       Impact factor: 49.962

7.  Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation.

Authors:  Y W Kan; A M Dozy
Journal:  Proc Natl Acad Sci U S A       Date:  1978-11       Impact factor: 11.205

8.  Haemoglobin Köln (beta-98 valine--methionine): an unstable protein causing inclusion-body anaemia.

Authors:  R W Carrell; H Lehmann; H E Hutchison
Journal:  Nature       Date:  1966-05-28       Impact factor: 49.962

9.  Insertion of synthetic copies of human globin genes into bacterial plasmids.

Authors:  J T Wilson; L B Wilson; J K deRiel; L Villa-komaroff; A Efstratiadis; B G Forget; S M Weissman
Journal:  Nucleic Acids Res       Date:  1978-02       Impact factor: 16.971

10.  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
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  3 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.  DNA-polymorphic patterns linked to the beta-globin genes in German families affected with hemoglobinopathies and thalassemias: a comparison to other ethnic groups.

Authors:  R Oehme; E Kohne; J Horst
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

3.  Heterogeneity of the alpha-globin gene defects in German alpha-thalassemia affected families.

Authors:  E U Griese; E Kohne; J Horst
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132
  3 in total

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