Literature DB >> 2982725

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

G Assum, E U Griese, J Horst.   

Abstract

A mutant Rsa I restriction endonuclease site of high frequency has been identified in individuals of German, Greek, Italian, and Turkish origin. The mutation was found within the alpha-globin gene complex and is located 0.7 kb 5' to the alpha 2-globin gene. In individuals of central European origin 34 out of 58 chromosomes exhibited the alpha-gene linkage to the presence of the polymorphic site, and thus a preliminary estimate of the gene frequency for this allele would be 0.59. DNA analysis data of individuals derived from Mediterranean populations indicate a distribution of this polymorphic marker in similar frequencies.

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Year:  1985        PMID： 2982725     DOI： 10.1007/bf00293285

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.  Mapping the alpha-globin genes in Hb J Mexico carriers.

Authors:  G Trabuchet; F Morle; G Verdier; J Godet; M Benabadji; V M Nigon
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

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.  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

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.  Molecular evolution of the human adult alpha-globin-like gene region: insertion and deletion of Alu family repeats and non-Alu DNA sequences.

Authors:  J F Hess; M Fox; C Schmid; C K Shen
Journal:  Proc Natl Acad Sci U S A       Date:  1983-10       Impact factor: 11.205

7.  Analysis of the Hb M Milwaukee mutation at the DNA level.

Authors:  J Horst; R Schäfer; E Kleihauer; E Kohne
Journal:  Br J Haematol       Date:  1983-08       Impact factor: 6.998

8.  The 3' untranslated regions of the duplicated human alpha-globin genes are unexpectedly divergent.

Authors:  A M Michelson; S H Orkin
Journal:  Cell       Date:  1980-11       Impact factor: 41.582

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

Authors:  E Beutler; W Kuhl; C Johnson
Journal:  Proc Natl Acad Sci U S A       Date:  1981-11       Impact factor: 11.205
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  7 in total

1.  Alpha-thalassemia haplotypes in the Algerian population.

Authors:  T Henni; F Morlé; B Lopez; P Colonna; J Godet
Journal:  Hum Genet       Date:  1987-03       Impact factor: 4.132

2.  Hemoglobin M Iwate is caused by a C----T transition in codon 87 of the human alpha 1-globin gene.

Authors:  J Horst; G Assum; E U Griese; A Eigel; W Hampl; E Kohne
Journal:  Hum Genet       Date:  1987-01       Impact factor: 4.132

3.  Allele loss on chromosome 16 associated with progression of human hepatocellular carcinoma.

Authors:  H Tsuda; W D Zhang; Y Shimosato; J Yokota; M Terada; T Sugimura; T Miyamura; S Hirohashi
Journal:  Proc Natl Acad Sci U S A       Date:  1990-09       Impact factor: 11.205

4.  Alpha thalassaemia: a potential source of error in DNA linkage studies for adult polycystic kidney disease.

Authors:  R J Trent; R C Wallace
Journal:  J Med Genet       Date:  1989-01       Impact factor: 6.318

5.  Alpha alpha alpha alpha anti-3.7 type II: a new alpha-globin gene rearrangement suggesting that the alpha-globin gene duplication could be caused by intrachromosomal recombination.

Authors:  M De Angioletti; G Lacerra; C Castaldo; R Cutolo; C de Bonis; G Buonanno; C Carestia
Journal:  Hum Genet       Date:  1992-04       Impact factor: 4.132

6.  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.  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
  7 in total

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