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

Detection of copy number variation by SNP-allelotyping

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

Houston Methodist

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

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.

Original language	English (US)
Pages (from-to)	4-7
Number of pages	4
Journal	Journal of Neurogenetics
Volume	29
Issue number	1
DOIs	https://doi.org/10.3109/01677063.2014.923884
State	Published - Mar 1 2015

Keywords

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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10.3109/01677063.2014.923884

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title = "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.",

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AU - Parker, Brett

AU - Alexander, Ryan

AU - Wu, Xingyao

AU - Feely, Shawna

AU - Shy, Michael

AU - Schnetz-Boutaud, Nathalie

AU - Li, Jun

PY - 2015/3/1

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AB - 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.

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Detection of copy number variation by SNP-allelotyping

Abstract

Keywords

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