Literature DB >> 2998970

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

R Oehme, E Kohne, J Horst.   

Abstract

DNA haplotype constellations of the beta-globin gene cluster have been analyzed in German families with hemoglobinopathies (Hb Freiburg, Hb Köln, Hb Presbyterian) and beta-thalassemias. The polymorphic patterns obtained were compared to those found in families from Greece, Italy, and Turkey affected by beta-thalassemia syndromes. With the combined analysis of seven restriction site polymorphisms a DNA-diagnostic prediction for additional offspring could be made with an overall frequency of 75% in the four ethnic groups.

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Year:  1985        PMID： 2998970     DOI： 10.1007/bf00284577

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  13 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.  Molecular cloning of human epsilon-globin gene.

Authors:  N J Proudfoot; F E Baralle
Journal:  Proc Natl Acad Sci U S A       Date:  1979-11       Impact factor: 11.205

3.  Molecular cloning and characterization of the human beta-like globin gene cluster.

Authors:  E F Fritsch; R M Lawn; T Maniatis
Journal:  Cell       Date:  1980-04       Impact factor: 41.582

Review 4.  The mutation and polymorphism of the human beta-globin gene and its surrounding DNA.

Authors:  S H Orkin; H H Kazazian
Journal:  Annu Rev Genet       Date:  1984       Impact factor: 16.830

Review 5.  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

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

Authors:  J Horst; R Oehme; E Kleihauer; E Kohne
Journal:  Blut       Date:  1984-04

8.  Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa.

Authors:  J Pagnier; J G Mears; O Dunda-Belkhodja; K E Schaefer-Rego; C Beldjord; R L Nagel; D Labie
Journal:  Proc Natl Acad Sci U S A       Date:  1984-03       Impact factor: 11.205

9.  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

10.  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
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  8 in total

1.  Beta-globin gene cluster haplotypes in Yanomama Indians from the Amazon region of Brazil.

Authors:  J F Guerreiro; M S Figueiredo; S E Santos; M A Zago
Journal:  Hum Genet       Date:  1992-08       Impact factor: 4.132

2.  Molecular basis of beta-thalassemia in Turkey: detection of rare mutations by direct sequencing.

Authors:  C Aulehla-Scholz; S Basaran; L Agaoglu; A Arcasoy; W Holzgreve; P Miny; F Ridolfi; J Horst
Journal:  Hum Genet       Date:  1990-01       Impact factor: 4.132

3.  Mediterranean types of beta-thalassemia in the German population.

Authors:  M Laig; M Pape; J Hundrieser; G Flatz
Journal:  Hum Genet       Date:  1990-06       Impact factor: 4.132

4.  The molecular basis of beta thalassaemia in Bulgaria.

Authors:  L Kalaydjieva; A Eigel; J Horst
Journal:  J Med Genet       Date:  1989-10       Impact factor: 6.318

5.  Direct mutation analysis of beta-thalassemia genes in families of various ethnic origins residing in Germany.

Authors:  J Schnee; A Eigel; J Horst
Journal:  Blut       Date:  1989-09

6.  Mutation analysis of beta-thalassemia genes in a German family reveals a rare transversion in the first intron.

Authors:  A Eigel; J Schnee; R Oehme; J Horst
Journal:  Hum Genet       Date:  1989-03       Impact factor: 4.132

7.  Haemoglobin Freiburg: direct detection by synthetic oligonucleotide probes.

Authors:  J Horst; R Oehme; J T Epplen; E Kohne
Journal:  Hum Genet       Date:  1988-06       Impact factor: 4.132

8.  Beta-thalassemia genes in French-Canadians: haplotype and mutation analysis of Portneuf chromosomes.

Authors:  F Kaplan; G Kokotsis; M DeBraekeleer; K Morgan; C R Scriver
Journal:  Am J Hum Genet       Date:  1990-01       Impact factor: 11.025
  8 in total

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