Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): Low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Americans
Article Abstract:
The C4 gene copy-number variation (CNV) was investigated in 1241 European Americans, including patients with systemic lupus erythematosus (SLE), their first degree relatives by defining genotyping and phenotyping techniques. The results show that gene copy number of gene CNV provides data for an important immune defense protein in health and disease suggesting that low copy number is a risk factor for and high copy number is a protective factor against susceptibility to human SLE.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
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A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon
Article Abstract:
Genomewide DNA copy number profiling is used and tested by array-based comparative genomic hybridization and quantitative polymerase-chain-reaction analysis of the human beta-defensin 2 (HBD-2) gene to test the hypothesis that deficient defensin expression may underlie the chronic inflammation of Crohn disease (CD). It is concluded that a lower HBD-2 gene copy number in the beta-defensin locus predisposes to colonic CD, most likely through diminished beta-defensin expression.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2006
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Highly sensitive method for genomewide detection of allelic composition in nonpaired, primary tumor specimens by use of Affymetrix single-nucleotide-polymorphism genotyping microarrays
Article Abstract:
A simple but highly sensitive method is described for genomewide detection of allelic composition, based on the Affymetrix single-nucleotide-polymorphism genotyping microarray platform, without dependence on the availability of constitutive DNA. The new algorithm, allele-specific copy-number analysis using anonymous references (AsCNR), might improve the ability to dissect the complexity of cancer genomes and also help in understanding the genetic basis of human cancers.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
User Contributions:
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