Detection of copy number variation by SNP-allelotyping.
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.
Department of Neurology, Vanderbilt University School of Medicine , Nashville, TN , USA.
Brett
B
Parker
Ryan
R
Alexander
Xingyao
X
Wu
Shawna
S
Feely
Michael
M
Shy
Nathalie
N
Schnetz-Boutaud
Jun
J
Li
D000690:Amyotrophic Lateral Sclerosis; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D056915:DNA Copy Number Variations / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization / Q000379:methods
C109561:CDRT1 protein, human; D011506:Proteins
Charcot-Marie-Tooth disease type-1A; copy number variation; peripheral myelin protein-22; single nucleotide polymorphism