title: Nucleotide substitution in the 5' flanking region of D1S80 locus.
abstract: We have analyzed a mutation responsible for a Hinf I polymorphism of the D1S80 system by Taq dye deoxy terminator cycle sequencing. A G-T transversion at the 58th nucleotide from the 5' end of the forward primer was identified. This mutation has been firmly established by the restriction enzymes. The type G was digested with Hinf I but not with Tsp 509 I. Conversely, the type T was digested with Tsp 509 I but not with Hinj I. We applied this technique to analyze D1S80 system in German and Japanese populations. In the Japanese population, the type T frequencies were much lower than those in the German population, and the type T was almost exclusively observed in the allele 24.
authors.affiliation: Department of Forensic Medicine, Yamagata University School of Medicine, Japan.
authors.forename: G
authors.initials: G
authors.lastname: Watanabe
authors.forename: K
authors.initials: K
authors.lastname: Umetsu
authors.forename: I
authors.initials: I
authors.lastname: Yuasa
authors.forename: U
authors.initials: U
authors.lastname: Vogt
authors.forename: T
authors.initials: T
authors.lastname: Suzuki
mesh_terms: D001483:Base Sequence; D016172:DNA Fingerprinting / Q000379:methods; D004252:DNA Mutational Analysis / Q000379:methods; D004259:DNA-Directed DNA Polymerase; D015252:Deoxyribonucleases, Type II Site-Specific; D005787:Gene Frequency / Q000235:genetics*; D005858:Germany; D006801:Humans; D007564:Japan; D018598:Minisatellite Repeats / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D015203:Reproducibility of Results; D019914:Taq Polymerase; D013728:Terminator Regions, Genetic
chemical_list: D019914:Taq Polymerase; D004259:DNA-Directed DNA Polymerase; D015252:Deoxyribonucleases, Type II Site-Specific; C032229:GANTC-specific type II deoxyribonucleases