Literature DB >> 6255436

Characterisation of a new alpha thalassemia 1 defect due to a partial deletion of the alpha globin gene complex.

L Pressley, D R Higgs, B Aldridge, A Metaxatou-Mavromati, J B Clegg, D J Weatherall.   

Abstract

A new deletion causing alpha thalassemia has been characterised in a Greek family. Detailed mapping of the alpha gene complex shows that the deletion extends for 5.2 kb and removes the whole of the alpha 2 gene and the 5' end of the alpha 1 gene. The affected chromosome, therefore produces no normal alpha chains and results in a phenotype of alpha thalassemia 1.

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Year:  1980        PMID： 6255436      PMCID： PMC324266          DOI： 10.1093/nar/8.21.4889

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN： 0305-1048            Impact factor:   16.971


  13 in total

1.  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

2.  Identification of a nondeletion defect in alpha-thalassemia.

Authors:  Y W Kan; A M Dozy; R Trecartin; D Todd
Journal:  N Engl J Med       Date:  1977-11-17       Impact factor: 91.245

Review 3.  Recent developments in the molecular genetics of human hemoglobin.

Authors:  D J Weatherall; J B Clegg
Journal:  Cell       Date:  1979-03       Impact factor: 41.582

4.  Organization of the alpha-globin genes in the Chinese alpha-thalassemia syndromes.

Authors:  S H Embury; R V Lebo; A M Dozy; Y W Kan
Journal:  J Clin Invest       Date:  1979-06       Impact factor: 14.808

5.  Haemoglobin-H disease due to a unique haemoglobin variant with an elongated alpha-chain.

Authors:  P F Milner; J B Clegg; D J Weatherall
Journal:  Lancet       Date:  1971-04-10       Impact factor: 79.321

6.  The duplicated human alpha globin genes lie close together in cellular DNA.

Authors:  S H Orkin
Journal:  Proc Natl Acad Sci U S A       Date:  1978-12       Impact factor: 11.205

7.  Isolation of high-molecular-weight DNA from mammalian cells.

Authors:  M Gross-Bellard; P Oudet; P Chambon
Journal:  Eur J Biochem       Date:  1973-07-02

8.  alpha thalassemia in black populations.

Authors:  D R Higgs; L Pressley; J B Clegg; D J Weatherall; G R Serjeant
Journal:  Johns Hopkins Med J       Date:  1980-06

9.  The molecular basis of alpha-thalassemias: frequent occurrence of dysfunctional alpha loci among non-Asians with Hb H disease.

Authors:  S H Orkin; J Old; H Lazarus; C Altay; A Gurgey; D J Weatherall; D G Nathan
Journal:  Cell       Date:  1979-05       Impact factor: 41.582

10.  Nucleotide sequence of the rightward operator of phage lambda.

Authors:  T Maniatis; A Jeffrey; D G Kleid
Journal:  Proc Natl Acad Sci U S A       Date:  1975-03       Impact factor: 11.205
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  15 in total

1.  Prenatal diagnosis of alpha-thalassemia by polymerase chain reaction and dual restriction enzyme analysis.

Authors:  R V Lebo; R K Saiki; K Swanson; M A Montano; H A Erlich; M S Golbus
Journal:  Hum Genet       Date:  1990-08       Impact factor: 4.132

2.  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

3.  A large deletion encompassing the entire alpha-like globin gene cluster in a family of northern European extraction.

Authors:  P Fortina; K Delgrosso; E Rappaport; M Poncz; S K Ballas; E Schwartz; S Surrey
Journal:  Nucleic Acids Res       Date:  1988-12-09       Impact factor: 16.971

Review 4.  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

5.  Genetic and molecular diversity in nondeletion Hb H disease.

Authors:  D R Higgs; L Pressley; B Aldridge; J B Clegg; D J Weatherall; A Cao; M G Hadjiminas; C Kattamis; A Metaxatou-Mavromati; E A Rachmilewitz; T Sophocleous
Journal:  Proc Natl Acad Sci U S A       Date:  1981-09       Impact factor: 11.205

Review 6.  The thalassemias: molecular mechanisms of human genetic disease.

Authors:  R A Spritz; B G Forget
Journal:  Am J Hum Genet       Date:  1983-05       Impact factor: 11.025

7.  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

8.  Human alpha-globin gene expression is silenced by terminal truncation of chromosome 16p beginning immediately 3' of the zeta-globin gene.

Authors:  L Romao; F Cash; I Weiss; S Liebhaber; M Pirastu; R Galanello; A Loi; E Paglietti; P Ioannou; A Cao
Journal:  Hum Genet       Date:  1992-05       Impact factor: 4.132

9.  An initiation codon mutation (AUG----GUG) of the human alpha 1-globin gene. Structural characterization and evidence for a mild thalassemic phenotype.

Authors:  P Moi; F E Cash; S A Liebhaber; A Cao; M Pirastu
Journal:  J Clin Invest       Date:  1987-11       Impact factor: 14.808

10.  Alpha-globin gene deletion causes alpha-thalassemia syndromes in two German families.

Authors:  J Horst; E U Griese; E Kleihauer; E Kohne
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132
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