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Human Genetics

, Volume 94, Issue 6, pp 653–657 | Cite as

Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene

  • Eva Nelis
  • Vincent Timmerman
  • Peter De Jonghe
  • Antoon Vandenberghe
  • Danielle Pham-Dinh
  • André Dautigny
  • Jean-Jacques Martin
  • Christine Van Broeckhoven
Original Investigation

Abstract

Charcot-Marie-Tooth type (CMT1) disease or hereditary motor and sensory neuropathy type I (HMSNI) is an autosomal dominant peripheral neuropathy. In most CMT1 families, the disease cosegregates with a 1.5-Mb duplication on chromosome 17p11.2 (CMT1A). A few patients have been found with mutations in the peripheral myelin protein 22 (PMP-22) gene located in the CMT1A region. In other families mutations have been identified in the major peripheral myelin protein po gene localized on chromosome Iq21-q23 (CMT1B). We performed a rapid mutation screening of the PMP-22 and P0 genes in non-duplicated CMT1 patients by single-strand conformation polymorphism analysis followed by direct polymerase chain reaction sequencing of genomic DNA. Six new single base changes in the P0 gene were observed: two missense mutations in, respectively, exons 2 and 3, two nonsense mutations in exon 4, and two silent mutations or polymorphisms in, respectively, exons 3 and 6.

Keywords

SSCP Analysis Single Base Change Hereditary Motor Family Mutation Myelin Gene 
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 1994

Authors and Affiliations

  • Eva Nelis
    • 1
  • Vincent Timmerman
    • 1
  • Peter De Jonghe
    • 1
  • Antoon Vandenberghe
    • 2
  • Danielle Pham-Dinh
    • 3
  • André Dautigny
    • 3
  • Jean-Jacques Martin
    • 4
  • Christine Van Broeckhoven
    • 1
  1. 1.Department of BiochemistryLaboratory of Neurogenetics, Born Bunge Foundation (BBS), University of Antwerp (UIA)AntwerpenBelgium
  2. 2.Laboratoire de Neurogénétique, Hôpital de l'Antiquaille and Faculté de Pharmacie, Université Claude BernardLyonFrance
  3. 3.Equipe ATIPE, CNRS Unithé 1488, Institut des Neurosciences, Université de ParisParisFrance
  4. 4.Laboratory of Neuropathology, Born Bunge Foundation (BBS) and Department of MedicineUniversity of Antwerp (UIA)AntwerpenBelgium

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