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Article

Detection of copy number variation by SNP-allelotyping.

Journal of neurogenetics - 1 Mar 2015

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

Abstract excerpt

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...

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Share to Amyotrophic Lateral Sclerosis
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 17

Share to DNA Copy Number Variations

Share to Gene Frequency

Share to Polymorphism, Single Nucleotide

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Share to Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization

Source

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Identifiers

PMID: 24830919
DOI: 10.3109/01677063.2014.923884
PMCID: PMC4254366

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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