Genetic Analysis of the Fragile X-Mental Retardation Syndrome with Polymorphic DNA Markers

  • I. Oberlé
  • G. Camerino
  • B. Arveiler
  • J. Boue
  • M. G. Mattéi
  • J. F. Mattéi
  • J. L. Mandel
Chapter
Part of the Topics in the Neurosciences book series (TNSC, volume 3)

Abstract

We have performed a linkage analysis in 16 families between the Fra X locus and two polymorphic DNA markers that correspond to the anonimous probe Stl4 and to the coapulation factor IX gene. Our results indicate that the order of loci is centromer-FIX-Fra X-Stl4-Xqter, with estimate of the recombination fraction for the linkage FIX-Fra X of 0.12 and Fra X-Stl4 of 0.10. Used in conjunction with cytogenetic analyses, the segregation studies with both probes should improve the genetic counseling for the Fra X syndrome and should be useful for the formal genetic analysis of this unique disease.

Keywords

Genetic Counseling Fragile Site Recombination Fraction Carrier Detection Fetal Blood Sampling 
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

© Martinus Nijhoff Publishing 1986

Authors and Affiliations

  • I. Oberlé
    • 1
  • G. Camerino
    • 2
  • B. Arveiler
    • 1
  • J. Boue
    • 3
  • M. G. Mattéi
    • 4
  • J. F. Mattéi
    • 4
  • J. L. Mandel
    • 1
  1. 1.Laboratoire de Génétique Moléculaire des Eucaryotes du CNRS et Unité 184 de l’INSERMFaculté de MédecineStrasbourgFrance
  2. 2.Dipartimento di Genetica e MicrobiologiaUniversitá di PaviaItaly
  3. 3.Unité 732 de l’INSERMChâteau de LongchampParisFrance
  4. 4.Unité 242 de l’INSERMHôpital de la TimoneMarseilleFrance

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