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

J Negat Results Biomed. 2005 Dec 7:4:9. doi: 10.1186/1477-5751-4-9.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Cohort Studies
  • Cystic Fibrosis / genetics*
  • DNA Probes / genetics
  • Diploidy
  • Gene Dosage / genetics*
  • Genome, Human / genetics*
  • Humans
  • beta-Defensins / genetics*

Substances

  • DNA Probes
  • beta-Defensins

Associated data

  • OMIM/219700
  • OMIM/602421