Literature DB >> 447845

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

S H Embury, R V Lebo, A M Dozy, Y W Kan.   

Abstract

The alpha-thalassemia syndromes are a group of inherited anemias, the clinical severity of which has been shown to increase with the number of alpha-globin structural genes deleted. Employing restriction endonuclease gene mapping, we defined the organization of the alpha-globin genes in cellular DNA from Chinese subjects with various alpha-thalassemia syndromes. The four alpha-globin genes of normals are at two loci located on a 23.0-kilobase pair (kb) Eco RI fragment. In deletion type hemoglobin-H disease the 5' alpha-globin locus is deleted and the single 3' alpha-globin locus is found on a 19.0-kb Eco RI fragment. In alpha-thalassemia-2 there are two alpha-globin genes on a 23.0-kb Eco RI fragment and one on a 19.0-kb fragment. In alpha-thalassemia-1 and the nondeletion type of hemoglobin-H disease the two alpha-globin genes are at two loci on one chromosome and none reside on the other chromosome.

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Year:  1979        PMID： 447845      PMCID： PMC372080          DOI： 10.1172/JCI109426

Source DB:  PubMed          Journal:  J Clin Invest        ISSN： 0021-9738            Impact factor:   14.808


  14 in total

1.  HAEMOGLOBIN H DISEASE IN THAILAND: A GENETICAL STUDY.

Authors:  P WASI; S NA-NAKORN; A SUINGDUMRONG
Journal:  Nature       Date:  1964-11-28       Impact factor: 49.962

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

3.  The severe form of alpha thalassaemia is caused by a haemoglobin gene deletion.

Authors:  S Ottolenghi; W G Lanyon; J Paul; R Williamson; D J Weatherall; J B Clegg; J Pritchard; S Pootrakul; W H Boon
Journal:  Nature       Date:  1974-10-04       Impact factor: 49.962

4.  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

5.  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

6.  A method for the recovery of DNA from agarose gels.

Authors:  H F Tabak; R A Flavell
Journal:  Nucleic Acids Res       Date:  1978-07       Impact factor: 16.971

7.  Selective restriction endonuclease cleavage of human globin genes.

Authors:  S H Orkin
Journal:  J Biol Chem       Date:  1978-01-10       Impact factor: 5.157

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.  Construction and characterization of new cloning vehicles. I. Ampicillin-resistant derivatives of the plasmid pMB9.

Authors:  F Bolivar; R L Rodriguez; M C Betlach; H W Boyer
Journal:  Gene       Date:  1977       Impact factor: 3.688

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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  51 in total

1.  PCR-based analysis of alpha-thalassemia in Southern Taiwan.

Authors:  Tyen-Po Chen; Ta-Chih Liu; Chao-Sung Chang; Jang-Gowth Chang; Hui-Jen Tsai; Sheng-Fung Lin
Journal:  Int J Hematol       Date:  2002-04       Impact factor: 2.490

2.  Linkage analysis of Norrie disease with X-chromosomal ornithine aminotransferase.

Authors:  J B Bateman
Journal:  Trans Am Ophthalmol Soc       Date:  1992

3.  A monoclonal antibody-linked immunoassay for hemoglobin H disease.

Authors:  M Shyamala; C R Kiefer; H Moscoso; F A Garver
Journal:  Ann Hematol       Date:  1992-07       Impact factor: 3.673

4.  Leftward deletion alpha-thalassaemia in the Saudi Arabian population.

Authors:  M A el-Hazmi
Journal:  Hum Genet       Date:  1986-11       Impact factor: 4.132

5.  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

6.  Extremely high frequencies of alpha-globin gene deletion in Madang and on Kar Kar Island, Papua New Guinea.

Authors:  P T Yenchitsomanus; K M Summers; K K Bhatia; J Cattani; P G Board
Journal:  Am J Hum Genet       Date:  1985-07       Impact factor: 11.025

7.  Translational profiles of alpha 1-, alpha 2-, and beta-globin messenger ribonucleic acids in human reticulocytes.

Authors:  S H Shakin; S A Liebhaber
Journal:  J Clin Invest       Date:  1986-10       Impact factor: 14.808

8.  Compensatory increase in alpha 1-globin gene expression in individuals heterozygous for the alpha-thalassemia-2 deletion.

Authors:  S A Liebhaber; F E Cash; D M Main
Journal:  J Clin Invest       Date:  1985-09       Impact factor: 14.808

9.  Deletions in the alpha-globin gene complex in alpha-thalassemic mice.

Authors:  J B Whitney; J Martinell; R A Popp; L B Russell; W F Anderson
Journal:  Proc Natl Acad Sci U S A       Date:  1981-12       Impact factor: 11.205

10.  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
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