title: The fifth allele of the human deoxyribonuclease I (DNase I) polymorphism.
abstract: The fifth allele, DNASE1*5, of human deoxyribonuclease I (DNase I) has been discovered. Polymerase chain reaction fragments containing exon 5 of the DNase I gene were screened for DNA polymorphism using single-strand conformation polymorphism (SSCP) analysis. DNAs from 114 unrelated Japanese and 81 German individuals were tested and a new variant was detected. By DNA sequencing analysis, this variant was found to be caused by a heterozygous G-A transition at nucleotide position 1227 that results in a Val to Met substitution at amino acid position 92 of the mature enzyme. The nucleotide substitution was also confirmed by mismatched polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) analysis. Genotyping of the variant could be carried out by three independent reactions based on PCR amplification, and phenotyping by isoelectric focusing followed by immunostaining. The results supported the presence of the fifth codominant allele, DNASE1*5, which generates a new isozyme.
authors.affiliation: Department of Forensic Medicine, Fukui Medical University, Japan.
authors.forename: R
authors.initials: R
authors.lastname: Iida
authors.forename: T
authors.initials: T
authors.lastname: Yasuda
authors.forename: M
authors.initials: M
authors.lastname: Aoyama
authors.forename: E
authors.initials: E
authors.lastname: Tsubota
authors.forename: M
authors.initials: M
authors.lastname: Kobayashi
authors.forename: I
authors.initials: I
authors.lastname: Yuasa
authors.forename: T
authors.initials: T
authors.lastname: Matsuki
authors.forename: K
authors.initials: K
authors.lastname: Kishi
mesh_terms: D000483:Alleles; D003850:Deoxyribonuclease I / Q000235:genetics*; D005091:Exons; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D007525:Isoelectric Focusing; D007527:Isoenzymes / Q000235:genetics*; D009154:Mutation; D009690:Nucleic Acid Conformation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA
chemical_list: D007527:Isoenzymes; D003850:Deoxyribonuclease I