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Detection of copy number variation by SNP-allelotyping.

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.

SUBMITTER: Parker B 

PROVIDER: S-EPMC4254366 | biostudies-literature | 2015 Mar

REPOSITORIES: biostudies-literature

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Detection of copy number variation by SNP-allelotyping.

Parker Brett B   Alexander Ryan R   Wu Xingyao X   Feely Shawna S   Shy Michael M   Schnetz-Boutaud Nathalie N   Li Jun J  

Journal of neurogenetics 20140602 1

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 dif  ...[more]

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