Detection of copy number variation by SNP-allelotyping

Brett Parker, Ryan Alexander, Xingyao Wu, Shawna Feely, Michael Shy, Nathalie Schnetz-Boutaud, Jun Li

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by an abnormal copy number variation (CNV) with a trisomy of chromosome 17p12. The increase of the DNA-segment copy number is expected to alter the allele frequency of single nucleotide polymorphism (SNP) within the duplicated region. We tested whether SNP allele frequency determined by a Sequenom MassArray can be used to detect the CMT1A mutation. Our results revealed distinct patterns of SNP allele frequency distribution, which reliably differentiated CMT1A patients from controls. This finding suggests that this technique may serve as an alternative approach to identifying CNV in certain diseases, including CMT1A.

Original languageEnglish (US)
Pages (from-to)4-7
Number of pages4
JournalJournal of Neurogenetics
Issue number1
StatePublished - Mar 1 2015


  • Charcot-Marie-Tooth disease type-1A
  • Copy number variation
  • Peripheral myelin protein-22
  • Single nucleotide polymorphism

ASJC Scopus subject areas

  • Genetics
  • Cellular and Molecular Neuroscience


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