Document Detail


A genome-wide analysis of loss of heterozygosity and chromosomal copy number variation in Proteus syndrome using high-density SNP microarrays.
MedLine Citation:
PMID:  20555334     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Excessive cell proliferation and genetic changes such as loss of an allele (loss of heterozygosity (LOH)) or amplifications or deletions of parts of chromosomes (copy number variations (CNV)) are common findings in cancers. It is unknown whether these changes are also present in patients with overgrowth syndromes, although the presence of small-scale CNVs (such as duplication of 11p15 in Beckwith-Wiedemann syndrome), excessive cell proliferation and an increased frequency of tumors have all been reported in these patients. We present results of a genome-wide scan for LOH and CNV in Proteus syndrome (PS), a severely disfiguring overgrowth syndrome. We investigated CNV and LOH in DNA derived from affected and normal tissue samples from six PS patients using Affymetrix GeneChip Mapping 250 K Nsp high-density single-nucleotide polymorphism microarrays. Analysis revealed that LOH and CNVs were not common in PS. We attempted to validate selected CNVs detected by microarray analysis using quantitative genomic PCR, but the observed changes were not confirmed. These results suggest that large-scale genome-wide CNVs and LOH as seen in cancer syndromes are not characteristic findings in PS, although we cannot rule out the possibility that newer arrays with a higher number of probes could uncover smaller CNVs not detected in this study.
Authors:
Ahmet Yilmaz; Nancy Hamel; Charles E Schwartz; Richard S Houlston; John I Harper; William D Foulkes
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-06-17
Journal Detail:
Title:  Journal of human genetics     Volume:  55     ISSN:  1435-232X     ISO Abbreviation:  J. Hum. Genet.     Publication Date:  2010 Sep 
Date Detail:
Created Date:  2010-09-24     Completed Date:  2011-02-02     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9808008     Medline TA:  J Hum Genet     Country:  Japan    
Other Details:
Languages:  eng     Pagination:  627-30     Citation Subset:  IM    
Affiliation:
Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
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MeSH Terms
Descriptor/Qualifier:
Chromosomes / genetics*
Chromosomes, Human, Pair 11
DNA / genetics
Female
Gene Dosage*
Genome-Wide Association Study*
Humans
Karyotyping
Loss of Heterozygosity*
Male
Oligonucleotide Array Sequence Analysis
Polymerase Chain Reaction
Polymorphism, Single Nucleotide*
Proteus Syndrome / genetics*
Chemical
Reg. No./Substance:
9007-49-2/DNA

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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