Home LiteratureArticle Details
PMID: 6278449 Published · ppublish English Comparative Study Journal Article

Restriction mapping of a new deletion responsible for G gamma (delta beta)o thalassemia.

Nucleic acids research ·Vol. 9 ·No. 24 ·1981-12-21 ·Pages 6813-25

Jones RW, Old JM, Trent RJ, Clegg JB, Weatherall DJ

Abstract

DNA from individuals heterozygous for (G)gamma(deltabeta)(o) thalassaemia has been studied by restriction endonuclease analysis. The results reveal a new molecular defect associated with this condition. A total of three defects is now responsible for the one single phenotype, thereby emphasising the complex relationship between genotype and phenotype among the disorders of beta-like globin synthesis in man.

MeSH Terms
Chromosome Deletion Chromosome Mapping DNA Restriction Enzymes Gene Expression Regulation Genotype Globins/genetics Humans Phenotype Thalassemia/genetics
Chemicals
Globins DNA Restriction Enzymes
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Jones R W
Old J M
Trent R J
Clegg J B
Weatherall D J
References (27)
27 references, click to expand
  1. Delta-beta-thalassaemia in a Chinese family.
    Br J Haematol. 1972 Oct;23(4):393-402 PMID: 5084805
  2. Isolation of high-molecular-weight DNA from mammalian cells.
    Eur J Biochem. 1973 Jul 2;36(1):32-8 PMID: 4200179
  3. The present status of the heterogeneity of fetal hemoglobin in beta-thalassemia: an attempt to unify some observations in thalassemia and related conditions.
    Ann N Y Acad Sci. 1974;232(0):107-24 PMID: 4528800
  4. Nucleotide sequence of the rightward operator of phage lambda.
    Proc Natl Acad Sci U S A. 1975 Mar;72(3):1184-8 PMID: 1055375
  5. Detection of specific sequences among DNA fragments separated by gel electrophoresis.
    J Mol Biol. 1975 Nov 5;98(3):503-17 PMID: 1195397
  6. A direct estimate of the number of human gamma-globin genes.
    Cell. 1976 May;8(1):13-8 PMID: 954089
  7. Enhanced autoradiographic detection of 32P and 125I using intensifying screens and hypersensitized film.
    FEBS Lett. 1977 Oct 15;82(2):314-6 PMID: 913604
  8. Insertion of synthetic copies of human globin genes into bacterial plasmids.
    Nucleic Acids Res. 1978 Feb;5(2):563-81 PMID: 345245
  9. Changes in restricted human cellular DNA fragments containing globin gene sequences in thalassemias and related disorders.
    Proc Natl Acad Sci U S A. 1978 Mar;75(3):1222-6 PMID: 274714
  10. Analysis of the beta-delta-globin gene loci in normal and Hb Lepore DNA: direct determination of gene linkage and intergene distance.
    Cell. 1978 Sep;15(1):25-41 PMID: 699045
  11. Structure of the human fetal globin gene locus.
    Nature. 1979 Mar 15;278(5701):227-31 PMID: 423971
  12. Globin gene deletion in HPFH, delta (o) beta (o) thalassaemia and Hb Lepore disease.
    Nature. 1979 Apr 12;278(5705):654-7 PMID: 450068
  13. Characterisation of deletions which affect the expression of fetal globin genes in man.
    Nature. 1979 Jun 14;279(5714):598-603 PMID: 450109
  14. Partial deletion of beta-globin gene DNA in certain patients with beta 0-thalassemia.
    Proc Natl Acad Sci U S A. 1979 May;76(5):2400-4 PMID: 287080
  15. Deletion of the A gamma-globin gene in G gamma-delta beta-thalassemia.
    J Clin Invest. 1979 Sep;64(3):866-9 PMID: 468997
  16. Physical mapping of the globin gene deletion in (delta beta (0)) -thalassaemia.
    Gene. 1979 Jul;6(3):265-80 PMID: 478302
  17. Efficient transfer of large DNA fragments from agarose gels to diazobenzyloxymethyl-paper and rapid hybridization by using dextran sulfate.
    Proc Natl Acad Sci U S A. 1979 Aug;76(8):3683-7 PMID: 291033
  18. RNA polymerase III transcriptional units are interspersed among human non-alpha-globin genes.
    Proc Natl Acad Sci U S A. 1979 Oct;76(10):5095-9 PMID: 388428
  19. Cellular regulation of hemoglobin switching: evidence for inverse relationship between fetal hemoglobin synthesis and degree of maturity of human erythroid cells.
    Proc Natl Acad Sci U S A. 1979 Dec;76(12):6420-4 PMID: 293729
  20. A comparison of the homozygous states for G gamma and G gamma A gamma delta beta thalassaemia.
    Br J Haematol. 1979 Dec;43(4):537-48 PMID: 93489
  21. gamma-beta-Thalassaemia studies showing that deletion of the gamma- and delta-genes influences beta-globin gene expression in man.
    Nature. 1980 Feb 14;283(5748):637-42 PMID: 6153459
  22. Globin chain synthesis in single erythroid bursts from cord blood: studies on gamma leads to beta and G gamma leads to A gamma switches.
    Proc Natl Acad Sci U S A. 1980 Jan;77(1):362-5 PMID: 6153796
  23. Heterogeneity in the molecular basis of hereditary persistence of fetal haemoglobin.
    Nature. 1980 May 29;285(5763):335-7 PMID: 6154897
  24. Molecular cloning and characterization of the human beta-like globin gene cluster.
    Cell. 1980 Apr;19(4):959-72 PMID: 6155216
  25. Physical mapping of the globin gene deletion in hereditary persistence of foetal haemoglobin (HPFH).
    Nucleic Acids Res. 1980 Apr 11;8(7):1521-34 PMID: 6159595
  26. Clinical and hematological evaluation of two delta 0 beta 0-thalassemia homozygotes.
    Hemoglobin. 1981;5(2):153-64 PMID: 6163753
  27. Major rearrangement in the human beta-globin gene cluster.
    Nature. 1981 May 7;291(5810):39-44 PMID: 7231523
Article Info
Journal
Nucleic acids research
Abbr.
Nucleic Acids Res
ISSN
0305-1048
DOI
10.1093/nar/9.24.6813
Published
1981-12-21
Pages
6813-25
Language
English
Region
England
NLM ID
0411011
PMCID
PMC327644
Subset
IM
External Links
PubMed source DOI: 10.1093/nar/9.24.6813 PMC Full Text View journal details
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: product@genelibs.com

Copyright © 2026.Genelibs Jinan Honghui Biotechnology Co., Ltd. 鲁ICP备20007159号-2