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PMID: 2883112 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

X-linked immunodeficiency with hyperimmunoglobulinemia M appears to be linked to the DXS42 restriction fragment length polymorphism locus.

Human genetics ·Vol. 76 ·No. 1 ·1987-05-00 ·Pages 96-9

Mensink EJ, Thompson A, Sandkuyl LA, Kraakman ME, Schot JD, Espanol T, Schuurman RK

Abstract

The gene involved in X-linked immunodeficiency with hyperimmunoglobulinemia M (XHM) was localized by the use of nine restriction fragment length polymorphic (RFLP) markers covering the entire X chromosome. Multipoint linkage analysis of RFLP data obtained in a three generation XHM pedigree indicates the Xq24-q27 area around the DXS42 RFLP locus as the most likely localization of the XHM locus.

MeSH Terms
Female Genetic Linkage Genetic Markers Hypergammaglobulinemia/genetics Immunoglobulin M Immunologic Deficiency Syndromes/genetics Lod Score Male Pedigree Polymorphism, Genetic Polymorphism, Restriction Fragment Length X Chromosome
Chemicals
Genetic Markers Immunoglobulin M
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Mensink E J
Thompson A
Sandkuyl L A
Kraakman M E
Schot J D
Espanol T
Schuurman R K
References (17)
17 references, click to expand
  1. The site of synthesis of the 19S gamma-globulins in dysgammaglobulinemia.
    J Exp Med. 1962 Jun 1;115:1141-8 PMID: 13882451
  2. Genetic heterogeneity in X-linked agammaglobulinemia complicates carrier detection and prenatal diagnosis.
    Clin Genet. 1987 Feb;31(2):91-6 PMID: 2881637
  3. Expression of the gene defect in X-linked agammaglobulinemia.
    N Engl J Med. 1986 Aug 28;315(9):564-7 PMID: 3488506
  4. A strategy to reveal high-frequency RFLPs along the human X chromosome.
    Am J Hum Genet. 1984 May;36(3):546-64 PMID: 6328976
  5. Strategies for multilocus linkage analysis in humans.
    Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443-6 PMID: 6587361
  6. The gamma globulins. 3. The antibody deficiency syndromes.
    N Engl J Med. 1966 Sep 29;275(13):709-15 contd PMID: 5331313
  7. The genetic linkage map of the human X chromosome.
    Science. 1985 Nov 15;230(4727):753-8 PMID: 4059909
  8. Dysgammaglobulinemic antibody deficiency syndrome.
    J Pediatr. 1967 Jan;70(1):16-27 PMID: 6016801
  9. 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
  10. Heterogeneity in the map distance between X-linked agammaglobulinemia and a map of nine RFLP loci.
    Hum Genet. 1986 Nov;74(3):280-3 PMID: 2877937
  11. Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment-length polymorphism.
    J Clin Invest. 1986 Feb;77(2):649-52 PMID: 3003164
  12. 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
  13. Hyper IgM immunodeficiency. A primary dysfunction of B lymphocyte isotype switching.
    J Clin Invest. 1983 Nov;72(5):1650-7 PMID: 6605368
  14. Hyper immunoglobulin M immunodeficiency. (Dysgammaglobulinemia). Presence of immunoglobulin M-secreting plasmacytoid cells in peripheral blood and failure of immunoglobulin M-immunoglobulin G switch in B-cell differentiation.
    J Clin Invest. 1979 Aug;64(2):385-91 PMID: 313404
  15. Mapping of a gene for X-linked agammaglobulinemia and evidence for genetic heterogeneity.
    Hum Genet. 1986 Aug;73(4):327-32 PMID: 3502688
  16. Evidence for a defect in "switch" T cells in patients with immunodeficiency and hyperimmunoglobulinemia M.
    N Engl J Med. 1986 Feb 13;314(7):409-13 PMID: 3080678
  17. Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy.
    Hum Genet. 1985;70(2):148-56 PMID: 2989153
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
Published
1987-05-00
Pages
96-9
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
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