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Frequencies of D19S433 silent alleles in a Japanese population of 1501 individuals and their effect on likelihood ratios calculated in kinship tests
Institution:1. Department of Law, Institute of Legal Medicine (AgEstimation Project), University of Macerata, Macerata, Italy;2. Postgraduate Program in Dentistry, Federal University of Paraíba, Campus I, João Pessoa, PB 58051900, Brazil;3. Department of Radiological Sciences, Ospedali Riuniti, Marche Polytechnic University, Ancona, Italy;4. School of Law, Legal Medicine, University of Camerino, Camerino, Italy;5. Department of Forensic Medicine, IM Sechenov First Moscow State Medical University, Moscow, Russian Federation;6. AgEstimation Project, Department of Forensic Medicine, University of Molise, Italy;1. School of Forensic Medicine, Kunming Medical University, Kunming, Yunnan Province, People’s Republic of China;2. Judicial Expertise Center of Kunming Medical University, Kunming, Yunnan Province, People’s Republic of China;1. DNA Fingerprinting Unit, State Forensic Science Laboratory, Department of Home (Police), Govt. of MP, Sagar 470001, India;2. DNA Division, State Forensic Science Laboratory, Rajasthan, Jaipur 302016, India;3. Institute of Forensic Science and Criminology, Bundelkhand University, Jhansi 284128, UP, India;1. Identification Center, National Research Institute of Police Science, 6-3-1 Kashiwanoha, Kashiwa, Chiba 277-0882, Japan;2. Fourth Biology Section, National Research Institute of Police Science, 6-3-1 Kashiwanoha, Kashiwa, Chiba 277-0882, Japan;3. Fifth Biology Section, National Research Institute of Police Science, 6–3-1 Kashiwanoha, Kashiwa, Chiba 277-0882, Japan;4. First Department of Forensic Science, National Research Institute of Police Science, 6-3-1 Kashiwanoha, Kashiwa, Chiba 277-0882, Japan;1. Department of Forensic Dental Science, Unit of Social Medicine, Nagasaki University Graduate School of Biomedical Sciences, 1-12-4 Sakamoto, Nagasaki 852-8523, Japan;2. Department of Forensic Pathology and Science, Unit of Social Medicine, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki University, 1-12-4 Sakamoto, Nagasaki 852-8523, Japan;3. Atomic Bomb Disease Institute, Nagasaki University, 1-12-4 Sakamoto, Nagasaki 852-8523, Japan
Abstract:Although silent alleles in D19S433 typing using the GlobalFiler PCR Amplification Kit have been reported, the exact frequency of the D19S433 silent alleles in population data of 1501 Japanese individuals, which are widely used for the assessment of Japanese STR typing results, is unclear. In this study, we examined the exact D19S433 silent allele frequency in this population data. We newly observed the G32A variant causing silent alleles at D19S433 in five samples. Combining them with data including 30 samples with the variant reported previously, we determined that the total frequency of the silent alleles (i.e. the frequency of the G32A variant) in the 1501 Japanese samples was 0.0117 (35/3002). Using the D19S433 allele frequency data, we evaluated the effect of presence/absence information for the D19S433 silent allele on kinship tests. Likelihood ratios (LRs) were calculated for both simulated parent–child and full sibling cases, revealing that the LR may change by approximately 10?2 to 103 fold when the presence/absence of the D19S433 silent allele is revealed in a kinship test. Therefore, if a sufficiently large or small LR is obtained, there is little need to determine the presence/absence of the D19S433 silent allele in Japanese kinship tests using GlobalFiler. This study will be beneficial for the assessment of Japanese human identification and kinship test results using GlobalFiler.
Keywords:GlobalFiler  D19S433  Silent allele  Japanese population  Kinship test  Likelihood ratio
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