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Human Genetics

, Volume 77, Issue 2, pp 172–174 | Cite as

Close linkage of random DNA fragments from Xq 21.3–22 to X-linked agammaglobulinaemia (XLA)

  • S. Malcolm
  • G. de Saint Basile
  • B. Arveiler
  • Y. L. Lau
  • P. Szabo
  • A. Fischer
  • C. Griscelli
  • M. Debre
  • J. L. Mandel
  • R. E. Callard
  • M. E. Robertson
  • J. A. Goodship
  • M. E. Pembrey
  • R. J. Levinsky
Original Investigations

Summary

Linkage analysis of 15 families affected by X-linked agammaglobulinaemia (XLA) showed close linkage with three probes located towards the centre of the long arm of the X chromosome. No cross-overs were found using pXG12 (DXS94) lod 6.6 or S21 (DXS17) lod 4.4. One cross-over was found with 19.2 (DXS3). This confirms and extends a previous linkage study (Kwan et al. 1986) which demonstrated linkage with S21 and 19.2. Of the families 14 were informative for either pXG12 or S21 and these probes should thus be of great diagnostic value. No evidence of heterogeneity was found in the XLA families but several cross-overs within this region were detected in a family with the X-linked hyper-IgM syndrome confirming this disease as a separate clinical entity.

Keywords

Internal Medicine Metabolic Disease Linkage Analysis Clinical Entity Close Linkage 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag 1987

Authors and Affiliations

  • S. Malcolm
    • 1
    • 2
  • G. de Saint Basile
    • 3
  • B. Arveiler
    • 4
  • Y. L. Lau
    • 1
    • 2
  • P. Szabo
    • 6
  • A. Fischer
    • 3
  • C. Griscelli
    • 3
  • M. Debre
    • 3
  • J. L. Mandel
    • 4
    • 5
  • R. E. Callard
    • 1
    • 2
  • M. E. Robertson
    • 1
    • 2
  • J. A. Goodship
    • 1
    • 2
  • M. E. Pembrey
    • 1
    • 2
  • R. J. Levinsky
    • 1
    • 2
  1. 1.Department of GeneticsInstitute of Child HealthLondonUK
  2. 2.Department of ImmunologyInstitute of Child HealthLondonUK
  3. 3.INSERM U 132Hôpital Necker-Enfants-MaladesParis Cedex 15France
  4. 4.INSERM U184Faculté de MédecineStrasbourgFrance
  5. 5.Laboratoire de Génétique Moléculaire des Eucaryotes du CNRSFaculté de MédecineStrasbourgFrance
  6. 6.Cornell Medical CentreNew YorkUSA

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