Home LiteratureArticle Details
PMID: 2901223 Published · ppublish English Journal Article

A new hypervariable marker for the human alpha-globin gene cluster.

American journal of human genetics ·Vol. 43 ·No. 3 ·1988-09-00 ·Pages 249-56

Jarman AP, Higgs DR

Abstract

We have located a highly polymorphic region of DNA approximately 100 kb upstream of the human alpha-globin genes (the alpha-globin 5' hypervariable region; 5'HVR). The element responsible is a minisatellite sequence comprising a variable copy number tandem repeat array of a G/C-rich 57-bp sequence. This increases the number of minisatellite elements in the vicinity of the alpha-globin genes to five, all of which share a region of sequence identity, thus raising questions concerning the distribution and origins of such tandem repeat sequences. The 5'HVR is highly polymorphic and, together with other hypervariable regions at this locus, provides a valuable genetic marker on the short arm of chromosome 16.

MeSH Terms
Base Sequence Chromosomes, Human, Pair 16 Cloning, Molecular DNA, Satellite Genetics, Population Globins/genetics Humans Molecular Sequence Data Multigene Family Polymorphism, Restriction Fragment Length
Chemicals
DNA, Satellite Globins
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Jarman A P
University of Oxford, John Radcliffe Hospital, Nuffield Department of Clinical Medicine, Headington, England.
Higgs D R
References (26)
26 references, click to expand
  1. Detection of specific sequences among DNA fragments separated by gel electrophoresis.
    J Mol Biol. 1975 Nov 5;98(3):503-17 PMID: 1195397
  2. Unusual features of CpG-rich (HTF) islands in the human alpha globin complex: association with non-functional pseudogenes and presence within the 3' portion of the zeta gene.
    Nucleic Acids Res. 1987 Nov 25;15(22):9215-25 PMID: 2825132
  3. Sequencing end-labeled DNA with base-specific chemical cleavages.
    Methods Enzymol. 1980;65(1):499-560 PMID: 6246368
  4. The highly polymorphic region near the human insulin gene is composed of simple tandemly repeating sequences.
    Nature. 1982 Jan 7;295(5844):31-5 PMID: 7035959
  5. Variation in the sequence and modification state of the human insulin gene flanking regions.
    Nucleic Acids Res. 1982 Apr 10;10(7):2225-40 PMID: 6283472
  6. The structure of the human zeta-globin gene and a closely linked, nearly identical pseudogene.
    Cell. 1982 Dec;31(3 Pt 2):553-63 PMID: 6297773
  7. Complete nucleotide sequences of the T24 human bladder carcinoma oncogene and its normal homologue.
    Nature. 1983 Mar 3;302(5903):33-7 PMID: 6298635
  8. Molecular basis of length polymorphism in the human zeta-globin gene complex.
    Proc Natl Acad Sci U S A. 1983 Aug;80(16):5022-6 PMID: 6308667
  9. Efficient in vitro synthesis of biologically active RNA and RNA hybridization probes from plasmids containing a bacteriophage SP6 promoter.
    Nucleic Acids Res. 1984 Sep 25;12(18):7035-56 PMID: 6091052
  10. Hypervariable 'minisatellite' regions in human DNA.
    Nature. 1985 Mar 7-13;314(6006):67-73 PMID: 3856104
  11. The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency.
    Proc Natl Acad Sci U S A. 1985 May;82(9):2824-8 PMID: 2986139
  12. A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16.
    Nature. 1985 Oct 10-16;317(6037):542-4 PMID: 2995836
  13. Direct cloning of specific genomic DNA sequences in plasmid libraries following fragment enrichment.
    Nucleic Acids Res. 1985 Nov 11;13(21):7569-78 PMID: 2999697
  14. Cloning a selected fragment from a human DNA 'fingerprint': isolation of an extremely polymorphic minisatellite.
    Nucleic Acids Res. 1986 Jun 11;14(11):4605-16 PMID: 2423969
  15. Analysis of the human alpha-globin gene cluster reveals a highly informative genetic locus.
    Proc Natl Acad Sci U S A. 1986 Jul;83(14):5165-9 PMID: 3014536
  16. Mapping genetic elements of Epstein-Barr virus that facilitate extrachromosomal persistence of Epstein-Barr virus-derived plasmids in human cells.
    Mol Cell Biol. 1985 Oct;5(10):2533-42 PMID: 3016506
  17. Molecular analysis of the hotspot of recombination in the murine major histocompatibility complex.
    Science. 1986 Oct 10;234(4773):173-9 PMID: 3018929
  18. Molecular characterisation of a hypervariable region downstream of the human alpha-globin gene cluster.
    EMBO J. 1986 Aug;5(8):1857-63 PMID: 3019666
  19. Gene distribution and nucleotide sequence organization in the human genome.
    Eur J Biochem. 1986 Nov 3;160(3):479-85 PMID: 3780716
  20. A hypervariable region 3' to the human apolipoprotein B gene.
    Nucleic Acids Res. 1986 Nov 25;14(22):9215-6 PMID: 3786150
  21. Variable number of tandem repeat (VNTR) markers for human gene mapping.
    Science. 1987 Mar 27;235(4796):1616-22 PMID: 3029872
  22. The human apolipoprotein C-II gene sequence contains a novel chromosome 19-specific minisatellite in its third intron.
    J Biol Chem. 1987 Apr 5;262(10):4787-93 PMID: 3558370
  23. Recombination at the human alpha-globin gene cluster: sequence features and topological constraints.
    Cell. 1987 May 8;49(3):369-78 PMID: 3032452
  24. A family of short, interspersed repeats is associated with tandemly repetitive DNA in the human genome.
    Proc Natl Acad Sci U S A. 1987 May;84(10):3320-4 PMID: 3554237
  25. Two highly polymorphic minisatellites from the pseudoautosomal region of the human sex chromosomes.
    EMBO J. 1987 Apr;6(4):963-9 PMID: 3595565
  26. Evolution of repeated DNA sequences by unequal crossover.
    Science. 1976 Feb 13;191(4227):528-35 PMID: 1251186
Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1988-09-00
Pages
249-56
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1715380
Subset
IM
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