Polymorphisms of the human beta-defensin-1 gene.

Defensins are antimicrobial peptides that play an important role in innate immunity. The authors have searched for intragenic polymorphisms of the recently cloned human beta-defensin-1 gene (HBD-1) whose gene product is expressed in the lung and whose function seems to be compromised in cystic fibrosis. Four frequent restriction fragment length polymorphisms in the HBD-1 cDNA sequence are described here, three of them being located in the 5'-UTR and one in the 3'-UTR. The minor alleles of the three polymorphisms of the 5'-UTR had allele frequencies of 0.39, 0.34 and 0.27, respectively, and the minor allele of the 3'-UTR polymorphism had a relative frequency of 0.13 in a cohort of 103 random German blood donors. The variants described in this report should be useful as single nucleotide polymorphisms in linkage and association studies of respiratory and other diseases.