Literature DB >> 6317540

Four new haplotypes observed in Algerian beta-thalassemia patients.

C Beldjord, C Lapouméroulie, M L Baird, R Girot, L Adjrad, G Lenoir, M Benabadji, D Labie.   

Abstract

beta-Thalassemia, a heterogeneous group of human anemias affecting the expression of beta-globin, is caused by a number of molecular defects. Restriction endonuclease mapping of ethnic populations has revealed many polymorphisms within and around the beta-like globin genes, combinations of which are assigned as haplotypes. Several haplotypes appear to be strongly linked with the molecular defects causing thalassemia in Greek and Italian patients (Orkin et al. 1982). We describe here haplotypes from 40 Algerian beta-thalassemic patients and eight normals determined by restriction endonuclease mapping at seven polymorphic sites. Four haplotypes previously unreported were observed in these thalassemic patients; this argues the existence in this population of undescribed beta-thalassemia alleles. The knowledge of the haplotypes in thalassemic families could be used for prenatal diagnosis of homozygote forms.

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Year:  1983        PMID: 6317540     DOI: 10.1007/bf00286665

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


  14 in total

1.  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

2.  Two cloned beta thalassemia genes are associated with amber mutations at codon 39.

Authors:  R Pergolizzi; R A Spritz; S Spence; M Goossens; Y W Kan; A Bank
Journal:  Nucleic Acids Res       Date:  1981-12-21       Impact factor: 16.971

3.  A new polymorphism in the human beta-globin gene useful in antenatal diagnosis.

Authors:  M C Driscoll; M Baird; A Bank; E A Rachmilewitz
Journal:  J Clin Invest       Date:  1981-10       Impact factor: 14.808

4.  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

5.  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

6.  Prenatal diagnosis of beta-thalassemia. Detection of a single nucleotide mutation in DNA.

Authors:  M Pirastu; Y W Kan; A Cao; B J Conner; R L Teplitz; R B Wallace
Journal:  N Engl J Med       Date:  1983-08-04       Impact factor: 91.245

7.  An improved method for the characterization of human haemoglobin mutants: identification of alpha-2-beta-2-95GLU, haemoglobin N (Baltimore).

Authors:  J B Clegg; M A Naughton; D J Weatherall
Journal:  Nature       Date:  1965-08-28       Impact factor: 49.962

8.  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

9.  A nucleotide change at a splice junction in the human beta-globin gene is associated with beta 0-thalassemia.

Authors:  M Baird; C Driscoll; H Schreiner; G V Sciarratta; G Sansone; G Niazi; F Ramirez; A Bank
Journal:  Proc Natl Acad Sci U S A       Date:  1981-07       Impact factor: 11.205

10.  Base substitution in an intervening sequence of a beta+-thalassemic human globin gene.

Authors:  R A Spritz; P Jagadeeswaran; P V Choudary; P A Biro; J T Elder; J K deRiel; J L Manley; M L Gefter; B G Forget; S M Weissman
Journal:  Proc Natl Acad Sci U S A       Date:  1981-04       Impact factor: 11.205

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  7 in total

1.  Common haplotype dependency of high G gamma-globin gene expression and high Hb F levels in beta-thalassemia and sickle cell anemia patients.

Authors:  D Labie; J Pagnier; C Lapoumeroulie; F Rouabhi; O Dunda-Belkhodja; P Chardin; C Beldjord; H Wajcman; M E Fabry; R L Nagel
Journal:  Proc Natl Acad Sci U S A       Date:  1985-04       Impact factor: 11.205

2.  Nucleotide variations in the 3' A gamma enhancer region are linked to beta-gene cluster haplotypes and are unrelated to fetal hemoglobin expression.

Authors:  A Ragusa; M Lombardo; E Bouhassira; C Beldjord; T Lombardo; R L Nagel; D Labie; R Krishnamoorthy
Journal:  Am J Hum Genet       Date:  1989-07       Impact factor: 11.025

3.  DNA haplotype distribution in Algerian beta thalassaemia patients. An extended evaluation by family studies and representative molecular characterization.

Authors:  F Rouabhi; C Lapouméroulie; S Amselem; R Krishnamoorthy; L Adjrad; R Girot; P Chardin; M Benabdji; D Labie; C Beldjord
Journal:  Hum Genet       Date:  1988-08       Impact factor: 4.132

4.  Heterogeneity of haplotypes among patients with severe Cooley disease in Eastern Sicily.

Authors:  M Lombardo; A Ragusa; G Sortino; E Cacciola; T Lombardo; D Labie
Journal:  Hum Genet       Date:  1986-02       Impact factor: 4.132

5.  The peculiar spectrum of beta-thalassemia genes in Tunisia.

Authors:  J Chibani; M Vidaud; P Duquesnoy; J L Bergé-Lefranc; M Pirastu; F Ellouze; J Rosa; M Goossens
Journal:  Hum Genet       Date:  1988-02       Impact factor: 4.132

6.  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

7.  A novel beta thalassemia gene with a single base mutation in the conserved polypyrimidine sequence at the 3' end of IVS 2.

Authors:  C Beldjord; C Lapoumeroulie; J Pagnier; M Benabadji; R Krishnamoorthy; D Labie; A Bank
Journal:  Nucleic Acids Res       Date:  1988-06-10       Impact factor: 16.971

  7 in total

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