Human Genetics

, Volume 96, Issue 3, pp 361–363 | Cite as

Two further cases of mutation R1947X in the NF1 gene: screening for a relatively common recurrent mutation

  • Conxi Lázaro
  • Helena Kruyer
  • Antonia Gaona
  • Xavier Estivill
Short Communication
Received:
Revised:

Abstract

We present two further cases of mutation R1947X in the neurofibromatosis type 1 gene. To date, a total of nine cases of mutation R1947X have been reported giving a frequency of about 2% and confirming the recurrence of this mutation. R1947X occurs within a CpG dinucleotide and supports the hypothesis that the mutation rate for this dinucleotide is higher than that of other dinucleotides. As routine analysis for R1947X is advisable, we have developed an allele-specific oligonucleotide hybridization assay for the efficient screening of a large number of samples.

Keywords

Internal Medicine Metabolic Disease Mutation Rate Dinucleotide Neurofibromatosis 
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 1995

Authors and Affiliations

  • Conxi Lázaro
    • 1
    • 2
  • Helena Kruyer
    • 2
  • Antonia Gaona
    • 2
  • Xavier Estivill
    • 1
    • 2
  1. 1.Genetic Service, Hospital Clínic i ProvincialBarcelonaSpain
  2. 2.Molecular Genetics DepartmentCancer Research Institute, Hospital Duran i ReynalsBarcelonaSpain

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