title: The molecular basis for genetic polymorphism of human deoxyribonuclease I: identification of the nucleotide substitution that generates the fourth allele.
abstract: In addition to the three alleles commonly responsible for the protein polymorphism of human deoxyribonuclease I, a mutation encoded by a fourth allele, DNASE1*4, was detected by isoelectric focusing. All 8 exons covering the entire open reading frame of the human DNase I gene were amplified by the polymerase chain reaction and subjected to direct sequencing. Only one nucleotide substitution, a C-to-G transition (CAG-->GAG), in the codon for amino acid 9 of the mature enzyme was found. This substitution resulted in the replacement of Gln with Glu (Q9E).
authors.affiliation: Department of Legal Medicine, Fukui Medical School, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Yasuda
authors.forename: D
authors.initials: D
authors.lastname: Nadano
authors.forename: H
authors.initials: H
authors.lastname: Takeshita
authors.forename: E
authors.initials: E
authors.lastname: Tenjo
authors.forename: K
authors.initials: K
authors.lastname: Sawazaki
authors.forename: M
authors.initials: M
authors.lastname: Ootani
authors.forename: K
authors.initials: K
authors.lastname: Kishi
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D004252:DNA Mutational Analysis; D017931:DNA Primers; D003850:Deoxyribonuclease I / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D017386:Sequence Homology, Amino Acid
chemical_list: D017931:DNA Primers; D003850:Deoxyribonuclease I