Literature DB >> 2425337

A silent deletion in the beta-globin gene cluster.

V E Tate, A V Hill, D K Bowden, J R Sadler, D J Weatherall, J B Clegg.   

Abstract

A survey of the gamma-globin gene region of over 1000 normal individuals revealed a novel 2.5 kb deletion which removes the 5' end of the A gamma-globin gene. Unusually, this deletion in the beta-globin gene cluster is not associated with increased fetal haemoglobin production. Sequence analysis of the deletion endpoints revealed no significant homology at the breakpoint and failed to support a role for a proposed recombination hotspot in IVS-2 in the generation of this illegitimate recombination event. The existence of small "silent" deletions in the beta-globin gene cluster emphasizes the importance of deletion size in altering expression of the fetal globin genes.

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Substances：

Year:  1986        PMID： 2425337      PMCID： PMC311488          DOI： 10.1093/nar/14.12.4743

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


  23 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

2.  Evolutionary relationships of human populations from an analysis of nuclear DNA polymorphisms.

Authors:  J S Wainscoat; A V Hill; A L Boyce; J Flint; M Hernandez; S L Thein; J M Old; J R Lynch; A G Falusi; D J Weatherall
Journal:  Nature       Date:  1986 Feb 6-12       Impact factor: 49.962

3.  The present status of the heterogeneity of fetal hemoglobin in beta-thalassemia: an attempt to unify some observations in thalassemia and related conditions.

Authors:  T H Huisman; W A Schroeder; G D Efremov; H Duma; B Mladenovski; C B Hyman; E A Rachmilewitz; N Bouver; A Miller; A Brodie; J R Shelton; J B Shelton; G Apell
Journal:  Ann N Y Acad Sci       Date:  1974       Impact factor: 5.691

4.  A novel rearrangement of the human beta-like globin gene cluster.

Authors:  R J Trent; D K Bowden; J M Old; J S Wainscoat; J B Clegg; D J Weatherall
Journal:  Nucleic Acids Res       Date:  1981-12-21       Impact factor: 16.971

5.  Gamma thalassemia resulting from the deletion of a gamma-globin gene.

Authors:  P K Sukumaran; T Nakatsuji; M B Gardiner; A L Reese; J G Gilman; T H Huisman
Journal:  Nucleic Acids Res       Date:  1983-07-11       Impact factor: 16.971

6.  A history of the human fetal globin gene duplication.

Authors:  S H Shen; J L Slightom; O Smithies
Journal:  Cell       Date:  1981-10       Impact factor: 41.582

7.  Duplication followed by deletion accounts for the structure of an Indian deletion beta (0)-thalassemia gene.

Authors:  R A Spritz; S H Orkin
Journal:  Nucleic Acids Res       Date:  1982-12-20       Impact factor: 16.971

8.  Physical mapping of the globin gene deletion in (delta beta (0)) -thalassaemia.

Authors:  R Bernards; J M Kooter; R A Flavell
Journal:  Gene       Date:  1979-07       Impact factor: 3.688

9.  Human fetal G gamma- and A gamma-globin genes: complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes.

Authors:  J L Slightom; A E Blechl; O Smithies
Journal:  Cell       Date:  1980-10       Impact factor: 41.582

10.  The deletion in a type of delta 0-beta 0-thalassaemia begins in an inverted AluI repeat.

Authors:  S Ottolenghi; B Giglioni
Journal:  Nature       Date:  1982-12-23       Impact factor: 49.962
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