Literature DB >> 6272319

Genetic and molecular diversity in nondeletion Hb H disease.

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.   

Abstract

Restriction endonuclease mapping of nondeletion alpha-thalassemia determinants from a variety of racial groups showed no detectable abnormalities within a 40-kilobase region of the zeta-alpha globin gene cluster. By using a zeta-specific probe, we defined three different types of interactions that give rise to Hb H disease, each involving a nondeletion alpha-thalassemia haplotype. mRNA analysis showed further diversity within these groups, indicating that there are at least three nondeletion determinations.

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Year:  1981        PMID： 6272319      PMCID： PMC348878          DOI： 10.1073/pnas.78.9.5833

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN： 0027-8424            Impact factor:   11.205


  18 in total

Review 1.  Hereditary persistence of fetal haemoglobin (HPFH) and delta beta thalassaemia.

Authors:  W G Wood; J B Clegg; D J Weatherall
Journal:  Br J Haematol       Date:  1979-12       Impact factor: 6.998

Review 2.  The alpha-chain-termination mutants and their relation to the alpha-thalassaemias.

Authors:  D J Weatherall; J B Clegg
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  1975-08-07       Impact factor: 6.237

3.  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

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.  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

6.  Molecular basis of hemoglobin-H disease in the Mediterranean population.

Authors:  Y W Kan; A M Dozy; G Stamatoyannopoulos; M G Hadjiminas; Z Zachariades; M Furbetta; A Cao
Journal:  Blood       Date:  1979-12       Impact factor: 22.113

7.  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

8.  Characterization of beta-globin mRNA in the beta0 thalassemias.

Authors:  J M Old; N J Proudfoot; W G Wood; J I Longley; J B Clegg; D J Weatherall
Journal:  Cell       Date:  1978-06       Impact factor: 41.582

9.  A novel alpha-globin gene arrangement in man.

Authors:  D R Higgs; J M Old; L Pressley; J B Clegg; D J Weatherall
Journal:  Nature       Date:  1980-04-17       Impact factor: 49.962

10.  beta 0 thalassemia, a nonsense mutation in man.

Authors:  J C Chang; Y W Kan
Journal:  Proc Natl Acad Sci U S A       Date:  1979-06       Impact factor: 11.205
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  10 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 zero- and beta zero-thalassemia in a Thai family: unusually mild homozygous beta zero-thalassemia without alpha-globin gene deletion.

Authors:  P Yenchitsomanus; K M Summers
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

3.  Inherited haemoglobin variants in a South African population.

Authors:  A R Bird; P Ellis; K Wood; C Mathew; C Karabus
Journal:  J Med Genet       Date:  1987-04       Impact factor: 6.318

Review 4.  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

5.  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

6.  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

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

8.  Phenotype-genotype correlation in haemoglobin H disease in childhood.

Authors:  R Galanello; M Pirastu; M A Melis; E Paglietti; P Moi; A Cao
Journal:  J Med Genet       Date:  1983-12       Impact factor: 6.318

9.  Alpha-globin loci in homozygous beta-thalassemia intermedia.

Authors:  P Triadou; C Lapoumeroulie; R Girot; D Labie
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

10.  The molecular basis of alpha-thalassaemia in Thailand.

Authors:  P Winichagoon; D R Higgs; S E Goodbourn; J B Clegg; D J Weatherall; P Wasi
Journal:  EMBO J       Date:  1984-08       Impact factor: 11.598
  10 in total

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