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.
Institute of Human Genetics, Medical School Hannover, Germany.
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Dörk
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Stuhrmann
D000483:Alleles; D001782:Blood Donors; D001798:Blood Proteins / Q000096:biosynthesis / Q000235:genetics*; D003001:Cloning, Molecular; D003550:Cystic Fibrosis / Q000378:metabolism; D017931:DNA Primers; D023082:Defensins; D005787:Gene Frequency; D005858:Germany; D006801:Humans; D007438:Introns; D008168:Lung / Q000378:metabolism; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011994:Recombinant Proteins / Q000096:biosynthesis; D023083:beta-Defensins
D001798:Blood Proteins; C406407:DEFB1 protein, human; D017931:DNA Primers; D023082:Defensins; D011994:Recombinant Proteins; D023083:beta-Defensins