Detection of Copy Number Variation by SNP-Allelotyping

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

doi:10.3109/01677063.2014.923884

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Detection of Copy Number Variation by SNP-Allelotyping

Journal article

Peer reviewed

Detection of Copy Number Variation by SNP-Allelotyping

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

Journal of neurogenetics, Vol.29(1), pp.4-7

01/02/2015

DOI: 10.3109/01677063.2014.923884

PMCID: PMC4254366

PMID: 24830919

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http://doi.org/10.3109/01677063.2014.923884View

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Abstract

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.

peripheral myelin protein-22

Charcot-Marie-Tooth disease type-1A

copy number variation

single nucleotide polymorphism

Details

Title: Subtitle: Detection of Copy Number Variation by SNP-Allelotyping
Creators: Brett Parker - Department of Neurology, Vanderbilt University School of Medicine
Ryan Alexander - Department of Neurology, Vanderbilt University School of Medicine
Xingyao Wu - Department of Neurology, University of Iowa
Shawna Feely - Department of Neurology, University of Iowa
Michael Shy - Department of Neurology, University of Iowa
Nathalie Schnetz-Boutaud - Center for Human Genetics Research and Vanderbilt Brain Institute, Vanderbilt University School of Medicine
Jun Li - Center for Human Genetics Research and Vanderbilt Brain Institute, Vanderbilt University School of Medicine
Resource Type: Journal article
Publication Details: Journal of neurogenetics, Vol.29(1), pp.4-7
DOI: 10.3109/01677063.2014.923884
PMID: 24830919
PMCID: PMC4254366
NLM abbreviation: J Neurogenet
ISSN: 0167-7063
eISSN: 1563-5260
Publisher: Taylor & Francis
Language: English
Date published: 01/02/2015
Academic Unit: Neurology; Molecular Physiology and Biophysics; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
Record Identifier: 9984020771102771

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