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. 2005 Dec 7:4:9.
doi: 10.1186/1477-5751-4-9.

Beta-defensin genomic copy number is not a modifier locus for cystic fibrosis

Edward J Hollox  1 , Jane Davies, Uta Griesenbach, Juliana Burgess, Eric W F W Alton, John A L Armour
Affiliations

Beta-defensin genomic copy number is not a modifier locus for cystic fibrosis

Edward J Hollox et al. J Negat Results Biomed. .

Abstract

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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Figures

Figure 1
Figure 1
Beta-defensin diploid copy number distribution in the cohort of 355 cystic fibrosis patients analysed.
Figure 2
Figure 2
Allelic distribution of DEFB4 microsatellite (EPEV-2) alleles in individuals with three and four copies of the beta-defensin gene cluster.
See this image and copyright information in PMC

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