{"title":"D21S11位点三等位基因峰的遗传研究","authors":"Yukinobu Kutsuwada","doi":"10.3408/jafst.785","DOIUrl":null,"url":null,"abstract":"Tri-allelic peaks are rarely detected from single-source DNA in the case of testing with commercial STR kits, while homozygous or heterozygous peaks are fre-quently observed at each locus. Tri-allelic patterns can possibly occur in healthy peo-ple, and the peak balance of various tri-alleles from diŠerent origins can cause some problems that discern from artifact peaks aŠecting the result of STR typing, or di‹culties in the evaluation of kinship. In this study, diŠerent samples from a volunteer with D21S11 tri-alleles ( alleles 26, 29, and 30 ) were tested using routine STR analysis methods. The peak balances of the tri-allele varied signiˆcantly between samples, therefore a type 1 tri-allelic pattern caused by somatic mutation in the early stages of diŠerentiation was possible because the sum of the lower two peak heights was roughly equal to the highest peak height in every case. Direct sequence analysis of the individual's family members revealed that the tri-allelic pattern was not inherited from the mother, nor was it passed down to the daughter. In addition, a mutated form of one of the tri-alleles and its mutated repeat unit and numbers were identiˆed. When tri-allelic peaks are suspected, it is essential to analyze not only intra-locus peak balance but also the whole electropherogram proˆle. This means that STR typ-ing is necessary considering the fact that pull-up peaks or stutter peaks could resem-ble tri-allelic peaks.","PeriodicalId":14709,"journal":{"name":"Japanese Journal of Forensic Science and Technology","volume":"240 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Genetic research to evaluate tri-allelic peaks on D21S11 locus\",\"authors\":\"Yukinobu Kutsuwada\",\"doi\":\"10.3408/jafst.785\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Tri-allelic peaks are rarely detected from single-source DNA in the case of testing with commercial STR kits, while homozygous or heterozygous peaks are fre-quently observed at each locus. Tri-allelic patterns can possibly occur in healthy peo-ple, and the peak balance of various tri-alleles from diŠerent origins can cause some problems that discern from artifact peaks aŠecting the result of STR typing, or di‹culties in the evaluation of kinship. In this study, diŠerent samples from a volunteer with D21S11 tri-alleles ( alleles 26, 29, and 30 ) were tested using routine STR analysis methods. The peak balances of the tri-allele varied signiˆcantly between samples, therefore a type 1 tri-allelic pattern caused by somatic mutation in the early stages of diŠerentiation was possible because the sum of the lower two peak heights was roughly equal to the highest peak height in every case. Direct sequence analysis of the individual's family members revealed that the tri-allelic pattern was not inherited from the mother, nor was it passed down to the daughter. In addition, a mutated form of one of the tri-alleles and its mutated repeat unit and numbers were identiˆed. When tri-allelic peaks are suspected, it is essential to analyze not only intra-locus peak balance but also the whole electropherogram proˆle. This means that STR typ-ing is necessary considering the fact that pull-up peaks or stutter peaks could resem-ble tri-allelic peaks.\",\"PeriodicalId\":14709,\"journal\":{\"name\":\"Japanese Journal of Forensic Science and Technology\",\"volume\":\"240 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2020-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Japanese Journal of Forensic Science and Technology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.3408/jafst.785\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Japanese Journal of Forensic Science and Technology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3408/jafst.785","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Genetic research to evaluate tri-allelic peaks on D21S11 locus
Tri-allelic peaks are rarely detected from single-source DNA in the case of testing with commercial STR kits, while homozygous or heterozygous peaks are fre-quently observed at each locus. Tri-allelic patterns can possibly occur in healthy peo-ple, and the peak balance of various tri-alleles from diŠerent origins can cause some problems that discern from artifact peaks aŠecting the result of STR typing, or di‹culties in the evaluation of kinship. In this study, diŠerent samples from a volunteer with D21S11 tri-alleles ( alleles 26, 29, and 30 ) were tested using routine STR analysis methods. The peak balances of the tri-allele varied signiˆcantly between samples, therefore a type 1 tri-allelic pattern caused by somatic mutation in the early stages of diŠerentiation was possible because the sum of the lower two peak heights was roughly equal to the highest peak height in every case. Direct sequence analysis of the individual's family members revealed that the tri-allelic pattern was not inherited from the mother, nor was it passed down to the daughter. In addition, a mutated form of one of the tri-alleles and its mutated repeat unit and numbers were identiˆed. When tri-allelic peaks are suspected, it is essential to analyze not only intra-locus peak balance but also the whole electropherogram proˆle. This means that STR typ-ing is necessary considering the fact that pull-up peaks or stutter peaks could resem-ble tri-allelic peaks.