{"title":"在Y-STR参考数据库中发现微量供体及其父系亲属的概率","authors":"Tóra Oluffa Stenberg Olsen , Niels Morling , Poul Svante Eriksen , Marie-Louise Kampmann , Helle Smidt Mogensen , Mikkel Meyer Andersen","doi":"10.1016/j.fsigen.2025.103320","DOIUrl":null,"url":null,"abstract":"<div><div>Forensic investigative genetic genealogy using Y-chromosome short tandem repeat (Y-STR) DNA profiles can give investigative leads in criminal cases by searching for the Y-STR trace profile or similar but not identical Y-STR profiles in relevant Y-STR databases. We conducted a simulation study with Yfiler<span><math><msup><mrow></mrow><mrow><mtext>TM</mtext></mrow></msup></math></span> Plus and PowerPlex® Y23 Y-STR profiles to estimate the probabilities of finding matches and near-matches in Y-STR databases. The success rate of finding the trace profile donors or their close relatives was quantified. We used the malan R software package to simulate the populations based on the Wright-Fisher model with the YHRD Y-STR mutation rates where uncertainties were incorporated in a Bayesian manner, a variance in reproductive success of 0.2, and a constant size for 100 generations followed by a 2% growth for 150 generations. Y-STR databases were generated by randomly drawing Y-STR profiles from a Yfiler<span><math><msup><mrow></mrow><mrow><mtext>TM</mtext></mrow></msup></math></span> Plus and PowerPlex® Y23 Y-STR population data set, respectively.</div><div>In a population of <span><math><mrow><mn>500</mn><mo>,</mo><mn>066</mn></mrow></math></span> individuals, a database size of 0.5% of the population resulted in a Y-STR database match probability of ca. 6% and 10% for Yfiler<span><math><msup><mrow></mrow><mrow><mtext>TM</mtext></mrow></msup></math></span> Plus and PowerPlex® Y23, respectively. Increasing the database size to 5% of the population resulted in a Y-STR match probability of ca. 41% and 54% for Yfiler<span><math><msup><mrow></mrow><mrow><mtext>TM</mtext></mrow></msup></math></span> Plus and PowerPlex® Y23, respectively. When a Y-STR match was found in the database, the probability of one of the individuals with the matching profiles being related within five meioses to the trace donor was ca. 64% and 56% for Yfiler<span><math><msup><mrow></mrow><mrow><mtext>TM</mtext></mrow></msup></math></span> Plus and PowerPlex® Y23, respectively, including the cases where the Y-STR profile originated from the donor. In this case, the closest relative in the database was found among the matching individuals with a probability of ca. 91%.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"80 ","pages":"Article 103320"},"PeriodicalIF":3.2000,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Probabilities of finding trace profile donors and their paternal relatives in Y-STR reference databases\",\"authors\":\"Tóra Oluffa Stenberg Olsen , Niels Morling , Poul Svante Eriksen , Marie-Louise Kampmann , Helle Smidt Mogensen , Mikkel Meyer Andersen\",\"doi\":\"10.1016/j.fsigen.2025.103320\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>Forensic investigative genetic genealogy using Y-chromosome short tandem repeat (Y-STR) DNA profiles can give investigative leads in criminal cases by searching for the Y-STR trace profile or similar but not identical Y-STR profiles in relevant Y-STR databases. We conducted a simulation study with Yfiler<span><math><msup><mrow></mrow><mrow><mtext>TM</mtext></mrow></msup></math></span> Plus and PowerPlex® Y23 Y-STR profiles to estimate the probabilities of finding matches and near-matches in Y-STR databases. The success rate of finding the trace profile donors or their close relatives was quantified. We used the malan R software package to simulate the populations based on the Wright-Fisher model with the YHRD Y-STR mutation rates where uncertainties were incorporated in a Bayesian manner, a variance in reproductive success of 0.2, and a constant size for 100 generations followed by a 2% growth for 150 generations. Y-STR databases were generated by randomly drawing Y-STR profiles from a Yfiler<span><math><msup><mrow></mrow><mrow><mtext>TM</mtext></mrow></msup></math></span> Plus and PowerPlex® Y23 Y-STR population data set, respectively.</div><div>In a population of <span><math><mrow><mn>500</mn><mo>,</mo><mn>066</mn></mrow></math></span> individuals, a database size of 0.5% of the population resulted in a Y-STR database match probability of ca. 6% and 10% for Yfiler<span><math><msup><mrow></mrow><mrow><mtext>TM</mtext></mrow></msup></math></span> Plus and PowerPlex® Y23, respectively. Increasing the database size to 5% of the population resulted in a Y-STR match probability of ca. 41% and 54% for Yfiler<span><math><msup><mrow></mrow><mrow><mtext>TM</mtext></mrow></msup></math></span> Plus and PowerPlex® Y23, respectively. When a Y-STR match was found in the database, the probability of one of the individuals with the matching profiles being related within five meioses to the trace donor was ca. 64% and 56% for Yfiler<span><math><msup><mrow></mrow><mrow><mtext>TM</mtext></mrow></msup></math></span> Plus and PowerPlex® Y23, respectively, including the cases where the Y-STR profile originated from the donor. In this case, the closest relative in the database was found among the matching individuals with a probability of ca. 91%.</div></div>\",\"PeriodicalId\":50435,\"journal\":{\"name\":\"Forensic Science International-Genetics\",\"volume\":\"80 \",\"pages\":\"Article 103320\"},\"PeriodicalIF\":3.2000,\"publicationDate\":\"2025-07-21\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Forensic Science International-Genetics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1872497325001000\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Forensic Science International-Genetics","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1872497325001000","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Probabilities of finding trace profile donors and their paternal relatives in Y-STR reference databases
Forensic investigative genetic genealogy using Y-chromosome short tandem repeat (Y-STR) DNA profiles can give investigative leads in criminal cases by searching for the Y-STR trace profile or similar but not identical Y-STR profiles in relevant Y-STR databases. We conducted a simulation study with Yfiler Plus and PowerPlex® Y23 Y-STR profiles to estimate the probabilities of finding matches and near-matches in Y-STR databases. The success rate of finding the trace profile donors or their close relatives was quantified. We used the malan R software package to simulate the populations based on the Wright-Fisher model with the YHRD Y-STR mutation rates where uncertainties were incorporated in a Bayesian manner, a variance in reproductive success of 0.2, and a constant size for 100 generations followed by a 2% growth for 150 generations. Y-STR databases were generated by randomly drawing Y-STR profiles from a Yfiler Plus and PowerPlex® Y23 Y-STR population data set, respectively.
In a population of individuals, a database size of 0.5% of the population resulted in a Y-STR database match probability of ca. 6% and 10% for Yfiler Plus and PowerPlex® Y23, respectively. Increasing the database size to 5% of the population resulted in a Y-STR match probability of ca. 41% and 54% for Yfiler Plus and PowerPlex® Y23, respectively. When a Y-STR match was found in the database, the probability of one of the individuals with the matching profiles being related within five meioses to the trace donor was ca. 64% and 56% for Yfiler Plus and PowerPlex® Y23, respectively, including the cases where the Y-STR profile originated from the donor. In this case, the closest relative in the database was found among the matching individuals with a probability of ca. 91%.
期刊介绍:
Forensic Science International: Genetics is the premier journal in the field of Forensic Genetics. This branch of Forensic Science can be defined as the application of genetics to human and non-human material (in the sense of a science with the purpose of studying inherited characteristics for the analysis of inter- and intra-specific variations in populations) for the resolution of legal conflicts.
The scope of the journal includes:
Forensic applications of human polymorphism.
Testing of paternity and other family relationships, immigration cases, typing of biological stains and tissues from criminal casework, identification of human remains by DNA testing methodologies.
Description of human polymorphisms of forensic interest, with special interest in DNA polymorphisms.
Autosomal DNA polymorphisms, mini- and microsatellites (or short tandem repeats, STRs), single nucleotide polymorphisms (SNPs), X and Y chromosome polymorphisms, mtDNA polymorphisms, and any other type of DNA variation with potential forensic applications.
Non-human DNA polymorphisms for crime scene investigation.
Population genetics of human polymorphisms of forensic interest.
Population data, especially from DNA polymorphisms of interest for the solution of forensic problems.
DNA typing methodologies and strategies.
Biostatistical methods in forensic genetics.
Evaluation of DNA evidence in forensic problems (such as paternity or immigration cases, criminal casework, identification), classical and new statistical approaches.
Standards in forensic genetics.
Recommendations of regulatory bodies concerning methods, markers, interpretation or strategies or proposals for procedural or technical standards.
Quality control.
Quality control and quality assurance strategies, proficiency testing for DNA typing methodologies.
Criminal DNA databases.
Technical, legal and statistical issues.
General ethical and legal issues related to forensic genetics.