Literature DB >> 6298094

Polymorphism of the Hinf I restriction site located 1 Kb 5' to the human beta-globin gene.

G Kohen, N Philippe, J Godet.   

Abstract

Mapping of the DNA from 14 Mediterranean subjects indicates a genetic variation in an Hinf I recognition site located 1 kilobase 5' to the beta-globin gene. This Hinf I site was found associated with eight beta-thalassemic genes and 11 normal beta genes, and hence is not specifically linked to beta-thalassemia.

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Year:  1982        PMID： 6298094     DOI： 10.1007/bf00282298

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


  18 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.  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

3.  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

4.  A new nonsense mutation as the molecular basis for beta thalassaemia.

Authors:  J Gorski; M Fiori; B Mach
Journal:  J Mol Biol       Date:  1982-01-25       Impact factor: 5.469

5.  Mapping the alpha-globin genes in an Algerian HbH patient and his family.

Authors:  E Whitelaw; J Pagnier; G Verdier; T Henni; J Godet; R Williamson
Journal:  Blood       Date:  1980-03       Impact factor: 22.113

6.  Association of the sickle hemoglobin mutation with the variant 13 Kb Hpa I DNA fragment in the Algerian population.

Authors:  T Henni; L Morle; N Alloisio
Journal:  Biomedicine       Date:  1981-07

7.  Complete nucleotide sequence of the human delta-globin gene.

Authors:  R A Spritz; J K DeRiel; B G Forget; S M Weissman
Journal:  Cell       Date:  1980-10       Impact factor: 41.582

8.  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

9.  The DNA sequence of the 5' flanking region of the human beta-globin gene: evolutionary conservation and polymorphic differences.

Authors:  N Moschonas; E de Boer; R A Flavell
Journal:  Nucleic Acids Res       Date:  1982-03-25       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.  Molecular and population genetic analysis of allelic sequence diversity at the human beta-globin locus.

Authors:  S M Fullerton; R M Harding; A J Boyce; J B Clegg
Journal:  Proc Natl Acad Sci U S A       Date:  1994-03-01       Impact factor: 11.205

Review 2.  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

3.  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
  3 in total

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