Human Genetics

, Volume 84, Issue 1, pp 19–21 | Cite as

Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia

  • S. Guioli
  • B. Arveiler
  • B. Bardoni
  • L. D. Notarangelo
  • P. Panina
  • M. Duse
  • A. Ugazio
  • I. Oberlé
  • G. de Saint Basile
  • J. L. Mandel
  • G. Camerino
Original Investigations

Summary

Segregation analysis was performed in three families affected in X-linked agammaglobulinemia (XLA) with five polymorphic DNA probes linked to the disease locus. In agreement with previous studies, no recombination was observed with either pXG12 (DXS94) or S21 (DXS17). Segregation analysis was also performed with a marker, p212 (DXS178), which has been shown to be closely linked to pXG12 in normal families. No cross-over with XLA was observed in these three families and in five additional families previously analyzed with DXS17 and DXS94 (z = 5.92 at θ = 0). These data provide evidence against genetic heterogeneity in XLA and indicate the value of probe p212 for carrier detection and prenatal diagnosis of XLA. We were able to estimate the carrier status of six females (out of six) in the three previously unreported families.

Keywords

Internal Medicine Metabolic Disease Prenatal Diagnosis Disease Locus Genetic Heterogeneity 
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 1989

Authors and Affiliations

  • S. Guioli
    • 1
  • B. Arveiler
    • 2
  • B. Bardoni
    • 1
  • L. D. Notarangelo
    • 3
  • P. Panina
    • 3
  • M. Duse
    • 3
  • A. Ugazio
    • 3
  • I. Oberlé
    • 2
  • G. de Saint Basile
    • 4
  • J. L. Mandel
    • 2
  • G. Camerino
    • 1
  1. 1.Biologia Generale e Genetica MedicaPaviaItaly
  2. 2.Faculté de MedicineINSERM U184 and LGME CNRSStrasbourgFrance
  3. 3.Clinica Pediatrica and Istituto di Chimica, Via ValsabbinaUniversità di BresciaBresciaItaly
  4. 4.INSERM U132, Hôpital Necker-Enfants-MaladesParis Cedex 15France

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