Home LiteratureArticle Details
PMID: 6928643 Published · ppublish English Journal Article Research Support, U.S. Gov't, P.H.S.

Triplicated alpha-globin loci in humans.

Proceedings of the National Academy of Sciences of the United States of America ·Vol. 77 ·No. 1 ·1980-01-00 ·Pages 518-21

Goossens M, Dozy AM, Embury SH, Zachariades Z, Hadjiminas MG, Stamatoyannopoulos G, Kan YW

Abstract

We have identified 12 individuals who are heterozygous for a chromosome with three alpha-globin genes. We determined the presence of the third alpha-globin locus by restriction endonuclease digestion and hybridization with alpha-globin cDNA probes. The three alpha-globin loci resided in an elongated fragment on digestion with EcoRI, BamHI, and Xba I, and the third locus was present in an additional 3.7-kilobase fragment on digestion with Hpa I, Sac I, and Bgl II. The locations of the restriction sites are compatible with a nonhomologous crossover mechanism producing the triple alpha loci. The frequency of the triple alpha loci was 0.0036 in American blacks and less than 0.004 in Sardinians, but was higher in Greek Crypriots (0.05). Individuals with five alpha-globin genes (alpha alpha/alpha alpha alpha) apparently showed no clinical or hematologic abnormalities.

MeSH Terms
Blacks Cyprus/ethnology Gene Frequency Genes Genetic Linkage Globins/genetics Hemoglobin A/biosynthesis Humans Recombination, Genetic
Chemicals
Globins Hemoglobin A
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Goossens M
Dozy A M
Embury S H
Zachariades Z
Hadjiminas M G
Stamatoyannopoulos G
Kan Y W
References (22)
22 references, click to expand
  1. Globin chain synthesis in the alpha thalassemia syndromes.
    J Clin Invest. 1969 Nov;47(11):2512-22 PMID: 5775343
  2. The fusion of two peptide chains in hemoglobin Lepore and its interpretation as a genetic deletion.
    Proc Natl Acad Sci U S A. 1962 Nov 15;48:1880-6 PMID: 13968954
  3. Observations on haemoglobin P (Congo type).
    Biochem J. 1970 Oct;119(5):43P PMID: 5492814
  4. Haemoglobin Miyada, a beta-delta fusion peptide (anti-Lepore) type discovered in a Japanese family.
    Nat New Biol. 1971 Sep 15;234(50):218-20 PMID: 5288810
  5. Duplication of haemoglobin genes.
    Biochimie. 1972;54(5):639-48 PMID: 4654161
  6. Haemoglobin P-Nilotic containing a - chain.
    Nat New Biol. 1973 Mar 28;242(117):107-10 PMID: 4513408
  7. The severe form of alpha thalassaemia is caused by a haemoglobin gene deletion.
    Nature. 1974 Oct 4;251(5474):389-92 PMID: 4138824
  8. Genetic lesion in homozygous alpha thalassaemia (hydrops fetalis).
    Nature. 1974 Oct 4;251(5474):392-3 PMID: 4424635
  9. Deletion of alpha-globin genes in haemoglobin-H disease demonstrates multiple alpha-globin structural loci.
    Nature. 1975 May 15;255(5505):255-6 PMID: 1170497
  10. Localization of the human alpha-globin structural gene to chromosome 16 in somatic cell hybrids by molecular hybridization assay.
    Cell. 1977 Sep;12(1):205-18 PMID: 561664
  11. Identification of a nondeletion defect in alpha-thalassemia.
    N Engl J Med. 1977 Nov 17;297(20):1081-4 PMID: 909565
  12. Antibody diversity.
    Science. 1978 Oct 6;202(4363):11-7 PMID: 99815
  13. Organization of human delta--and beta-globin genes in cellular DNA and the presence of intragenic inserts.
    Cell. 1978 Sep;15(1):15-23 PMID: 699038
  14. 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
  15. Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation.
    Proc Natl Acad Sci U S A. 1978 Nov;75(11):5631-5 PMID: 281713
  16. The isolation and characterization of linked delta- and beta-globin genes from a cloned library of human DNA.
    Cell. 1978 Dec;15(4):1157-74 PMID: 728996
  17. The duplicated human alpha globin genes lie close together in cellular DNA.
    Proc Natl Acad Sci U S A. 1978 Dec;75(12):5950-4 PMID: 282616
  18. Sequence of the 3'-noncoding and adjacent coding regions of human gamma-globin mRNA.
    Nucleic Acids Res. 1978 Dec;5(12):4625-30 PMID: 318163
  19. Organization of the alpha-globin genes in the Chinese alpha-thalassemia syndromes.
    J Clin Invest. 1979 Jun;63(6):1307-10 PMID: 447845
  20. alpha-Globin gene organisation in blacks precludes the severe form of alpha-thalassaemia.
    Nature. 1979 Aug 16;280(5723):605-7 PMID: 460443
  21. Alpha-thalassaemia in Cyprus.
    J Med Genet. 1979 Oct;16(5):363-5 PMID: 513081
  22. Different types of alpha-thalassaemia and significance of haemoglobin Bart's in neonates.
    Lancet. 1970 Jul 11;1(7663):78-80 PMID: 4193365
Article Info
Journal
Proceedings of the National Academy of Sciences of the United States of America
Abbr.
Proc Natl Acad Sci U S A
ISSN
0027-8424
DOI
10.1073/pnas.77.1.518
Published
1980-01-00
Pages
518-21
Language
English
Region
United States
NLM ID
7505876
PMCID
PMC348303
Subset
IM
External Links
PubMed source DOI: 10.1073/pnas.77.1.518 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: [email protected]

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