Document Detail

Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populations.
MedLine Citation:
PMID:  15820309     Owner:  NLM     Status:  MEDLINE    
Human beta defensins contribute to the first line of defense against infection of the lung. Polymorphisms in these genes are therefore potential modifiers of the severity of lung disease in cystic fibrosis. Polymorphisms were sought in the human beta-defensin genes DEFB1, DEFB4, DEFB103A, and DEFB104 in healthy individuals and cystic fibrosis (CF) patients living in various European countries. DEFB1, DEFB4, and DEFB104 were very polymorphic, but DEFB103A was not. Within Europe, differences between control populations were found for some of the frequent polymorphisms in DEFB1, with significant differences between South-Italian and Czech populations. Moreover, frequent polymorphisms located in DEFB4 and DEFB104 were not in Hardy Weinberg equilibrium in all populations studied, while those in DEFB1 were in Hardy Weinberg equilibrium. Sequencing of a monochromosomal chromosome 8 mouse-human hybrid cell line revealed signals for multiple alleles for some loci in DEFB4 and DEFB104, but not for DEFB1. This indicated that more than one DEFB4 and DEFB104 gene was present on this chromosome 8, in agreement with recent findings that DEFB4 and DEFB104 are part of a repeat region. Individual DEFB4 and DEFB104 PCR amplification products of various samples were cloned and sequenced. The results showed that one DNA sample could contain more than two haplotypes, indicating that the various repeats on one chromosome were not identical. Given the higher complexity found in the genomic organization of the DEFB4 and DEFB104 genes, association studies with CF lung disease severity were performed only for frequent polymorphisms located in DEFB1. No association with the age of first infection by Pseudomonas aeruginosa or with the FEV1 percentage at the age of 11-13 years could be found.
Anne Vankeerberghen; Olga Scudiero; Kris De Boeck; Milan Macek; Pier Franco Pignatti; Noémi Van Hul; Hilde Nuytten; Francesco Salvatore; Giuseppe Castaldo; Daniela Zemkova; Vera Vavrova; Jean-Jacques Cassiman; Harry Cuppens
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Genomics     Volume:  85     ISSN:  0888-7543     ISO Abbreviation:  Genomics     Publication Date:  2005 May 
Date Detail:
Created Date:  2005-04-11     Completed Date:  2005-08-11     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8800135     Medline TA:  Genomics     Country:  United States    
Other Details:
Languages:  eng     Pagination:  574-81     Citation Subset:  IM    
Department of Human Genetics, KULeuven, Herestraat 49, O&N6, 3000 Louvain, Belgium.
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MeSH Terms
Analysis of Variance
Base Sequence
Cell Line
Chromosomes, Human, Pair 8 / genetics*
Cystic Fibrosis / genetics*
Genetics, Population*
Haplotypes / genetics
Molecular Sequence Data
Polymorphism, Genetic*
Sequence Analysis, DNA
beta-Defensins / genetics*
Reg. No./Substance:

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

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