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D19S433 Primer Binding Site Mutation and the Frequency in Japanese of the Silent Allele It Causes

NCJ Number
224716
Journal
Journal of Forensic Sciences Volume: 53 Issue: 5 Dated: September 2008 Pages: 1068-1073
Author(s)
Natsuko Mizuno D.V.M.; Tetsushi Kitayama M.Sc.; Koji Fujii Ph.D.; Hiroaki Nakahara D.V.M.; Kanako Yoshida Ph.D.; Kazumasa Sekiguchi Ph.D.; Naoto Yonezawa Ph.D.; Minoru Nakano Ph.D.; Kenraro Kasai Ph.D.
Date Published
September 2008
Length
6 pages
Annotation
Since the primer in the Identifiler kit failed to amplify an allele at the D19S433 locus, producing a silent (“null”) allele, this article reports on the cause of the D19S433 silent allele and its frequency in samples in two distant regions of Japan, followed by a description of the authors’ method for detecting the silent allele and a discussion of the impact of the D19S433 silent allele on human identification and parentage analysis.
Abstract
The cause of the silent allele at D19S433 was identified as a G to A point mutation at the reverse primer binding site of the reverse primer in the Identifiler kit. Using the authors’ method for detecting the silent allele at the D19S433 locus, the frequencies of its presence in 176 people from Shizuoka (Honshu) and 156 people from Okinawa was 0.0114 and 0.0128, respectively. Thus, it is anticipated that an “apparent opposite homozygosity” inconsistency at D19S433 between a child and his/her biological parents will be observed about once every 50-60 parentage tests, producing false evidence of nonparentage. Alternative primers were designed by the authors in order to amplify the D19S433 locus alleles, and they successfully detected the silent allele. The descriptions of materials and methods address DNA samples, direct sequencing, amplification for single tandem repeat (STR) analysis, electrophoresis and typing, and data analysis. A table shows the sequences of primers designed for direct sequencing and STR typing with information on primers in the Identifiler kit. 4 tables, 3 figures, and 28 references