POLYMORPHISMS OF THE HUMAN BETA-DEFENSIN-1 GENE

Defensins are antimicrobial peptides that play an important role in in nate immunity. The authors have searched for intragenic polymorphisms of the recently cloned human beta-defensin-1 gene (HBD-1) whose gene p roduct is expressed in the lung and whose function seems to be comprom ised in cystic fibrosis. Four frequent restriction fragment length pol ymorphisms in the HBD-1 cDNA sequence are described here, three of the m 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 po lymorphism had a relative frequency of 0.13 in a cohort of 103 random German blood donors. Phe variants described in this report should be u seful as single nucleotide polymorphisms in linkage and association st udies of respiratory and other diseases. (C) 1998 Academic Press.