Literature DB >> 6094337

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

J Horst, E U Griese, E Kleihauer, E Kohne.   

Abstract

Restriction endonuclease mapping of chromosomal DNA has been used to determine whether the alpha-globin gene deletion or non-deletion form of alpha-thalassemia is the underlying molecular defect in individuals of two unrelated German families with alpha-thalassemia syndromes. The obtained DNA pattern in all cases indicated loss of alpha-globin genes resulting in -alpha/alpha alpha, --/alpha alpha, and --/-alpha genotypes in alpha-thalassemia-2, alpha-thalassemia-1, and Hb H individuals respectively. The chromosomes showing loss of one alpha-globin gene in alpha-thalassemia-2 and Hb H disease were characterized by the so-called rightward deletion form exhibiting loss of a 3.7 kb DNA fragment in the alpha-gene cluster.

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Year:  1984        PMID： 6094337     DOI： 10.1007/bf00418398

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


  28 in total

1.  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

2.  A new genetic basis for hemoglobin-H disease.

Authors:  L Pressley; D R Higgs; J B Clegg; R P Perrine; M E Pembrey; D J Weatherall
Journal:  N Engl J Med       Date:  1980-12-11       Impact factor: 91.245

Review 3.  Alpha-thalassemia.

Authors:  D R Higgs; D J Weatherall
Journal:  Curr Top Hematol       Date:  1983

4.  Two different molecular organizations account for the single alpha-globin gene of the alpha-thalassemia-2 genotype.

Authors:  S H Embury; J A Miller; A M Dozy; Y W Kan; V Chan; D Todd
Journal:  J Clin Invest       Date:  1980-12       Impact factor: 14.808

5.  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

6.  Prenatal diagnosis of alpha-thalassemia. Clinical application of molecular hybridization.

Authors:  Y W Kan; M S Golbus; A M Dozy
Journal:  N Engl J Med       Date:  1976-11-18       Impact factor: 91.245

7.  Abnormal RNA splicing causes one form of alpha thalassemia.

Authors:  B K Felber; S H Orkin; D H Hamer
Journal:  Cell       Date:  1982-07       Impact factor: 41.582

8.  Hemoglobin H disease and multiple congenital anomalies in a child of northern European origin.

Authors:  B Hjelle; S Charache; J A Phillips
Journal:  Am J Hematol       Date:  1982-12       Impact factor: 10.047

9.  Hemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence?

Authors:  D J Weatherall; D R Higgs; C Bunch; J M Old; D M Hunt; L Pressley; J B Clegg; N C Bethlenfalvay; S Sjolin; R D Koler; E Magenis; J L Francis; D Bebbington
Journal:  N Engl J Med       Date:  1981-09-10       Impact factor: 91.245

10.  Differentiation of the mRNA transcripts originating from the alpha 1- and alpha 2-globin loci in normals and alpha-thalassemics.

Authors:  S A Liebhaber; Y W Kan
Journal:  J Clin Invest       Date:  1981-08       Impact factor: 14.808
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  1 in total

1.  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
  1 in total

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