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PMID: 1734714 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Fine mapping of the McLeod locus (XK) to a 150-380-kb region in Xp21.

American journal of human genetics ·Vol. 50 ·No. 2 ·1992-02-00 ·Pages 317-30

Ho MF, Monaco AP, Blonden LA, van Ommen GJ, Affara NA, Ferguson-Smith MA, Lehrach H

Abstract

McLeod syndrome, characterized by acanthocytosis and the absence of a red-blood-cell Kell antigen (Kx), is a multisystem disorder involving a late-onset myopathy, splenomegaly, and neurological defects. The locus for this syndrome has been mapped, by deletion analysis, to a region between the loci for Duchenne muscular dystrophy (DMD) and chronic granulomatous disease (CGD). In this study, we describe a new marker, 3BH/R 0.3 (DXS 709), isolated by cloning the deletion breakpoint of a DMD patient. A long-range restriction map of Xp21, encompassing the gene loci for McLeod and CGD, was constructed, and multiple CpG islands were found clustered in a 700-kb region. Using the new marker, we have limited the McLeod syndrome critical region to 150-380-kb. Within this interval, two CpG-rich islands which may represent candidate sites for the McLeod gene were identified.

Related Genes
CGD DMD XK
MeSH Terms
Blotting, Southern Chromosome Fragility Chromosome Mapping DNA/genetics Dinucleoside Phosphates/genetics,metabolism Electrophoresis, Gel, Pulsed-Field Genetic Linkage Genetic Markers Granulomatous Disease, Chronic/genetics Humans Kell Blood-Group System/genetics Male Muscular Dystrophies/genetics Nucleic Acid Hybridization Restriction Mapping Syndrome X Chromosome
Chemicals
Dinucleoside Phosphates Genetic Markers Kell Blood-Group System cytidylyl-3'-5'-guanosine DNA
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Ho M F
Human Genetics Laboratory, Imperial Cancer Research Fund, Oxford.
Monaco A P
Blonden L A
van Ommen G J
Affara N A
Ferguson-Smith M A
Lehrach H
References (29)
29 references, click to expand
  1. Isolation of genomic DNA.
    Methods Enzymol. 1987;152:180-3 PMID: 3657568
  2. Gene deletion in a patient with chronic granulomatous disease and McLeod syndrome: fine mapping of the Xk gene locus.
    Blood. 1988 Jan;71(1):252-5 PMID: 3334897
  3. Dystrophin expression and genotypic analysis of two cases of benign X linked myopathy (McLeod's syndrome).
    J Med Genet. 1990 Jun;27(6):345-7 PMID: 2193159
  4. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.
    Anal Biochem. 1983 Jul 1;132(1):6-13 PMID: 6312838
  5. Lambda replacement vectors carrying polylinker sequences.
    J Mol Biol. 1983 Nov 15;170(4):827-42 PMID: 6315951
  6. Biochemical studies on McLeod phenotype erythrocytes.
    Vox Sang. 1981 Jan;40(1):17-26 PMID: 7222560
  7. Hereditary acanthocytosis associated with the McLeod phenotype of the Kell blood group system.
    Br J Haematol. 1979 Aug;42(4):575-83 PMID: 476009
  8. Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy.
    Hum Genet. 1987 Mar;75(3):221-7 PMID: 2881877
  9. Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels.
    Nature. 1987 Oct 15-21;329(6140):640-2 PMID: 2889148
  10. Haematological changes associated with the McLeod phenotype of the Kell blood group system.
    Br J Haematol. 1977 Jun;36(2):219-24 PMID: 871435
  11. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals.
    Cell. 1987 Jul 31;50(3):509-17 PMID: 3607877
  12. Localization of the McLeod locus (XK) within Xp21 by deletion analysis.
    Am J Hum Genet. 1988 May;42(5):703-11 PMID: 3358422
  13. A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome.
    Cell. 1986 Nov 21;47(4):499-504 PMID: 2877741
  14. Xp21 DNA microdeletion in a patient with chronic granulomatous disease, retinitis pigmentosa, and McLeod phenotype.
    Hum Genet. 1988 Sep;80(1):85-9 PMID: 3417309
  15. CpG-rich islands and the function of DNA methylation.
    Nature. 1986 May 15-21;321(6067):209-13 PMID: 2423876
  16. Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.
    Am J Hum Genet. 1989 Dec;45(6):835-47 PMID: 2573997
  17. High resolution deletion breakpoint mapping in the DMD gene by whole cosmid hybridization.
    Nucleic Acids Res. 1989 Jul 25;17(14):5611-21 PMID: 2569720
  18. A deletion hot spot in the Duchenne muscular dystrophy gene.
    Genomics. 1988 Feb;2(2):101-8 PMID: 2900805
  19. Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment.
    Nature. 1985 Aug 29-Sep 4;316(6031):842-5 PMID: 2993910
  20. 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
  21. Duchenne muscular dystrophy due to familial Xp21 deletion detectable by DNA analysis and flow cytometry.
    Hum Genet. 1986 Jun;73(2):175-80 PMID: 3721503
  22. A large inverted duplication allows homologous recombination between chromosomes heterozygous for the proximal t complex inversion.
    Cell. 1987 Mar 13;48(5):813-25 PMID: 2880670
  23. Construction and characterization of a genomic library in lambda.
    Methods Enzymol. 1987;152:190-9 PMID: 2958678
  24. Use of restriction enzymes to detect potential gene sequences in mammalian DNA.
    Nature. 1987 May 28-Jun 3;327(6120):336-8 PMID: 2438557
  25. Kell blood group antigens are part of a 93,000-dalton red cell membrane protein.
    J Biol Chem. 1986 Jul 15;261(20):9521-5 PMID: 2424912
  26. Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location.
    Nature. 1986 Jul 3-9;322(6074):32-8 PMID: 2425263
  27. Molecular genetics of chronic granulomatous disease.
    Annu Rev Immunol. 1989;7:277-307 PMID: 2523713
  28. Biochemical studies on McLeod phenotype red cells and isolation of Kx antigen.
    Br J Haematol. 1988 Jan;68(1):131-6 PMID: 3345289
  29. Isolation of cDNA clones using yeast artificial chromosome probes.
    Nucleic Acids Res. 1990 Jul 11;18(13):3913-7 PMID: 2115671
Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1992-02-00
Pages
317-30
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1682457
Subset
IM
External Links
PubMed source PMC Full Text View journal details
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