title: Identification of the nucleotide substitution that generates the fourth polymorphic site in human deoxyribonuclease I (DNase I).
abstract: In addition to the three polymorphic sites responsible for protein polymorphism, a new polymorphic site has been identified in intron 7 of the human deoxyribonuclease I (DNase I) gene. Three phenotypes were observed on single-strand conformational polymorphism analysis of a 266-bp polymerase chain reaction-amplified fragment containing exon 7 and part of intron 7 of the human DNase I gene. DNA sequencing analysis demonstrated that a C-G substitution occurred at position 1978 in intron 7. This substitution was confirmed by restriction fragment length polymorphism analysis, since a new Msp1 site is created by the substitution. Population and family studies showed that the inheritance of the genotypes for DNase I C1978G polymorphism is controlled by two codominant alleles, tentatively designated DNASE1*1978C and *1978G. The gene frequencies in a Japanese population were significantly different from those in a Caucasian (German) population. The C1978G polymorphism is in linkage disequilibrium with the common DNase I protein phenotypes 1, 1-2, and 2.
authors.affiliation: Department of Legal Medicine, Fukui Medical School, Japan.
authors.forename: R
authors.initials: R
authors.lastname: Iida
authors.forename: T
authors.initials: T
authors.lastname: Yasuda
authors.forename: H
authors.initials: H
authors.lastname: Takeshita
authors.forename: E
authors.initials: E
authors.lastname: Tsubota
authors.forename: I
authors.initials: I
authors.lastname: Yuasa
authors.forename: T
authors.initials: T
authors.lastname: Nakajima
authors.forename: K
authors.initials: K
authors.lastname: Kishi
mesh_terms: D001483:Base Sequence; D017931:DNA Primers; D003850:Deoxyribonuclease I / Q000235:genetics*; D005091:Exons; D005838:Genotype; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D017931:DNA Primers; D003850:Deoxyribonuclease I