Journal of Negative Results in BioMedicine · 2005 · 31 citations · 26 references
Life SciencesGeneticsMolecular GeneticsGenomicsMedical GeneticsMicrobial GeneticsCopy Number Variant AnalysisCystic FibrosisDisease Susceptibility LociFibrosisGenetic DisordersCftr Gene MutationsCopy Number ChangesCystic Fibrosis GeneticsCystic Fibrosis Lung DiseaseDefensin ExpressionDefensin FamilyLung Disease Progression
Human beta-defensin 2 (DEFB4, also known as DEFB2 or hBD-2) is a salt-sensitive antimicrobial protein that is expressed in lung epithelia. Previous work has shown that it is encoded in a cluster of beta-defensin genes at 8p23.1, which varies in copy number between 2 and 12 in different individuals. We determined the copy number of this locus in 355 patients with cystic fibrosis (CF), and tested for correlation between beta-defensin cluster genomic copy number and lung disease associated with CF. No significant association was found.
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Detection of large-scale variation in the human genome
A. John Iafrate, Lars Feuk, Miguel N. Rivera et al. · Nature Genetics · 2004 · 2.9K citations
Large-Scale Copy Number Polymorphism in the Human Genome
Jonathan Sebat, B. Lakshmi, Jennifer Troge et al. · Science · 2004 · 2.6K citations