Translational Research
Volume 156, Issue 5 , Pages 309-314 , November 2010

Protocol proposal for Friedreich ataxia molecular diagnosis using fluorescent and triplet repeat primed polymerase chain reaction

  • Mar Xunclà

      Affiliations

    • Biochemistry and Molecular Genetics Service, Hospital Clínic, Barcelona, Spain
    • Fundació Clínic per a la Recerca Biomèdica, Barcelona, Spain
    • ,
  • Laia Rodríguez-Revenga

      Affiliations

    • Biochemistry and Molecular Genetics Service, Hospital Clínic, Barcelona, Spain
    • CIBER de Enfermedades Raras, Barcelona, Spain
    • ,
  • Irene Madrigal

      Affiliations

    • Biochemistry and Molecular Genetics Service, Hospital Clínic, Barcelona, Spain
    • CIBER de Enfermedades Raras, Barcelona, Spain
    • ,
  • Dolores Jiménez

      Affiliations

    • Biochemistry and Molecular Genetics Service, Hospital Clínic, Barcelona, Spain
    • ,
  • Montserrat Milà

      Affiliations

    • Biochemistry and Molecular Genetics Service, Hospital Clínic, Barcelona, Spain
    • CIBER de Enfermedades Raras, Barcelona, Spain
    • Institut d’Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain
    • ,
  • Cèlia Badenas

      Affiliations

    • Biochemistry and Molecular Genetics Service, Hospital Clínic, Barcelona, Spain
    • CIBER de Enfermedades Raras, Barcelona, Spain
    • Institut d’Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain
    • Corresponding Author InformationReprint requests: Cèlia Badenas, Biochemistry and Molecular Genetics Service, Villarroel 170, Hospital Clínic 08036 Barcelona, Spain

Received 6 May 2010 ,Revised 27 July 2010 ,Accepted 3 August 2010.

References 

  1. Delatycki MB, Williamson R, Forrest SM. Friedreich ataxia: an overview. J Med Genet. 2000;37:1–8
  2. Schulz JB, Boesch S, Burk K, et al. Diagnosis and treatment of Friedreich ataxia: a European perspective. Nat Rev Neurol. 2009;5:222–234
  3. Campuzano V, Montermini L, Molto MD, et al. Friedreich’s ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 1996;271:1423–1427
  4. Poirier J, Ohshima K, Pandolfo M. Heteroduplexes may confuse the interpretation of PCR-based molecular tests for the Friedreich ataxia GAA triplet repeat. Hum Mutat. 1999;13:328–330
  5. Ciotti P, Di Maria E, Bellone E, Ajmar F, Mandich P. Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia. J Mol Diagn. 2004;6:285–289
  6. Warner JP, Barron LH, Goudie D, et al. A general method for the detection of large CAG repeat expansions by fluorescent PCR. J Med Genet. 1996;33:1022–1026
  7. Cagnoli C, Michielotto C, Matsuura T, et al. Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay. J Mol Diagn. 2004;6:96–100
  8. Lamba LD, Ciotti P, Giribaldi G, et al. Friedreich’s ataxia: a new mutation in two compound heterozygous siblings with unusual clinical onset. Eur Neurol. 2009;61:240–243
  9. Santos R, Lefevre S, Sliwa D, Seguin A, Camadro JM, Lesuisse E. Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities. Antioxid Redox Signal. 2010;13:651–690

 Supported by the CIBER de Enfermedades Raras.

PII: S1931-5244(10)00161-1

doi: 10.1016/j.trsl.2010.08.001

Translational Research
Volume 156, Issue 5 , Pages 309-314 , November 2010

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