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PMID: 2984924 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus.

American journal of human genetics ·Vol. 37 ·No. 2 ·1985-03-00 ·Pages 235-49

de Martinville B, Kunkel LM, Bruns G, Morlé F, Koenig M, Mandel JL, Horwich A, Latt SA, Gusella JF, Housman D

Abstract

Panels of somatic cell hybrid lines carrying various structural rearrangements of the human X chromosome short arm were analyzed with 21 X-chromosome-specific cloned DNA fragments. We mapped these molecular markers to five different regions of the short arm of the X chromosome. The results were confirmed by gene-dosage studies of human lymphoblasts with structurally abnormal X chromosomes. The ornithine transcarbamylase gene and four anonymous DNA sequences map within band Xp21, flanking the presumed locus for Duchenne muscular dystrophy.

MeSH Terms
Animals Base Sequence Chromosome Banding Chromosome Mapping Cricetinae Cricetulus DNA/genetics DNA Restriction Enzymes Female Genetic Linkage Genetic Markers Humans Hybrid Cells Male Mice Muscular Dystrophies/genetics Nucleic Acid Hybridization Rats X Chromosome
Chemicals
Genetic Markers DNA DNA Restriction Enzymes
Authors & Affiliations
10 authors, click to expand affiliations / ORCID
de Martinville B
Kunkel L M
Bruns G
Morlé F
Koenig M
Mandel J L
Horwich A
Latt S A
Gusella J F
Housman D
References (36)
36 references, click to expand
  1. Duchenne muscular dystrophy involving translocation of the dmd gene next to ribosomal RNA genes.
    Science. 1984 Jun 29;224(4656):1447-9 PMID: 6729462
  2. A strategy to reveal high-frequency RFLPs along the human X chromosome.
    Am J Hum Genet. 1984 May;36(3):546-64 PMID: 6328976
  3. Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome.
    Hum Genet. 1984;67(1):115-9 PMID: 6745920
  4. Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus.
    Science. 1984 Nov 9;226(4675):698-700 PMID: 6494904
  5. Random X inactivation resulting in mosaic nullisomy of region Xp21.1----p21.3 associated with heterozygosity for ornithine transcarbamylase deficiency and for chronic granulomatous disease.
    Cytogenet Cell Genet. 1984;38(4):298-307 PMID: 6510024
  6. DNA analysis of first-trimester chorionic villous biopsies: test for maternal contamination.
    Am J Hum Genet. 1984 Nov;36(6):1357-68 PMID: 6517057
  7. Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome.
    Am J Hum Genet. 1985 Mar;37(2):250-67 PMID: 4039107
  8. SELECTION OF HYBRIDS FROM MATINGS OF FIBROBLASTS IN VITRO AND THEIR PRESUMED RECOMBINANTS.
    Science. 1964 Aug 14;145(3633):709-10 PMID: 14168277
  9. Intrachromosomal gene mapping in man: assignment of nucleoside phosphorylase to region 14cen leads to 14q21 by interspecific hybridization of cells with a t(X;14) (p22;q21) translocation.
    Somatic Cell Genet. 1976 Jan;2(1):27-40 PMID: 829289
  10. Enzyme electrophoresis on cellulose acetate gel: zymogram patterns in mgh-mouse and man--Chinese hamster somatic cell hybrids.
    Arch Biochem Biophys. 1971 Aug;145(2):470-83 PMID: 4331030
  11. Dimethyl sulfoxide enhances polyethylene glycol-mediated somatic cell fusion.
    Somatic Cell Genet. 1976 May;2(3):263-70 PMID: 1028173
  12. Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I.
    J Mol Biol. 1977 Jun 15;113(1):237-51 PMID: 881736
  13. Simple and rapid fluorimetric method for DNA microassay.
    Anal Biochem. 1977 Nov;83(1):252-7 PMID: 21598
  14. Gene dose effect: intraband mapping of the LDH A locus using cells from four individuals with different interstitial deletions of 11p.
    Cytogenet Cell Genet. 1977;19(4):197-207 PMID: 598250
  15. Quantitative analysis of high-resolution trypsin-giemsa bands on human prometaphase chromosomes.
    Hum Genet. 1978 Dec 18;45(2):137-65 PMID: 738718
  16. Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm.
    J Med Genet. 1979 Oct;16(5):389-92 PMID: 513085
  17. Localization of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation.
    Proc Natl Acad Sci U S A. 1980 May;77(5):2810-3 PMID: 6930669
  18. An (X;11) translocation in a girl with Duchenne muscular dystrophy. Repository identification No. GM1695.
    Cytogenet Cell Genet. 1980;27(4):268 PMID: 7438786
  19. Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21.
    Am J Hum Genet. 1981 Jul;33(4):513-8 PMID: 7258185
  20. Cloning of a representative genomic library of the human X chromosome after sorting by flow cytometry.
    Nature. 1981 Oct 1;293(5831):374-6 PMID: 6456416
  21. High-resolution ideograms of trypsin-Giemsa banded human chromosomes.
    Cytogenet Cell Genet. 1981;31(1):24-32 PMID: 7297127
  22. Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus.
    J Med Genet. 1981 Dec;18(6):442-7 PMID: 7334502
  23. Regional localization on the human X of DNA segments cloned from flow sorted chromosomes.
    Nucleic Acids Res. 1982 Mar 11;10(5):1557-78 PMID: 6461845
  24. Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy.
    Nature. 1982 Nov 4;300(5887):69-71 PMID: 6982420
  25. Single-copy sequence hybridizes to polymorphic and homologous loci on human X and Y chromosomes.
    Proc Natl Acad Sci U S A. 1982 Sep;79(17):5352-6 PMID: 6291041
  26. Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome.
    Nucleic Acids Res. 1983 Apr 25;11(8):2303-12 PMID: 6304647
  27. Linkage relationships between Retinoschisis, Xg, and a cloned DNA sequence from the distal short arm of the X chromosome.
    Hum Genet. 1983;64(2):143-5 PMID: 6885047
  28. The use of linked DNA polymorphisms for genotype prediction in families with Duchenne muscular dystrophy.
    J Med Genet. 1983 Aug;20(4):252-4 PMID: 6684693
  29. Activation of human alpha 1-antitrypsin gene in rat hepatoma x human fetal liver cell hybrids depends on presence of human chromosome 14.
    Somatic Cell Genet. 1983 Sep;9(5):567-92 PMID: 6604949
  30. Identification and isolation of transcribed human X chromosome DNA sequences.
    Nucleic Acids Res. 1983 Nov 25;11(22):7961-79 PMID: 6689068
  31. Report of the Committee on the Genetic Constitution of the X and Y Chromosomes.
    Cytogenet Cell Genet. 1984;37(1-4):176-204 PMID: 6360558
  32. Further evidence for Xp21 location of Duchenne muscular dystrophy (DMD) locus: X;9 translocation in a female with DMD.
    J Med Genet. 1983 Dec;20(6):461-3 PMID: 6655672
  33. Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention.
    Hum Genet. 1984;66(1):17-40 PMID: 6365739
  34. Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28.
    Nature. 1984 May 17-23;309(5965):253-5 PMID: 6325945
  35. Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms.
    Proc Natl Acad Sci U S A. 1984 May;81(9):2836-9 PMID: 6326147
  36. Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase.
    Science. 1984 Jun 8;224(4653):1068-74 PMID: 6372096
Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1985-03-00
Pages
235-49
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1684559
Subset
IM
Grants
NIGMS NIH HHS · GM-26105 · United States
NIGMS NIH HHS · GM-32156 · United States
NICHD NIH HHS · HD04807 · United States
External Links
PubMed source PMC Full Text View journal details
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