Ji Eun Lee , Sang Un Park , Moon Hyun So , Hwan Young Lee
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Therefore, the DNA methylation profiles of semen samples from 56 healthy Korean males were generated using Illumina’s </span>Infinium MethylationEPIC BeadChip Array. Among the ten identified age-associated CpG markers located in the Y-chromosome, nine were used to construct age prediction models. The identified markers were further investigated in the MPS analysis of 147 semen samples, and the multiplex assay was validated with the reliability, reproducibility and sensitivity tests. Several age prediction models were constructed using the MPS data with the multiple </span>linear regression<span>, stepwise linear regression, ridge linear regression, lasso regression<span>, elastic net linear regression and support vector machine analyses, and all showed MAEs of 5 to 7 years in the test set samples. Six single-source female samples were also subjected to MPS analysis but showed very low coverage that could not affect the analysis of the mixed samples. Therefore, the age prediction models of the present study are expected to provide useful investigative leads, especially in mixed male and female samples from sexual assault cases.</span></span></p></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":null,"pages":null},"PeriodicalIF":3.2000,"publicationDate":"2024-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Age prediction using DNA methylation of Y-chromosomal CpGs in semen samples\",\"authors\":\"Ji Eun Lee , Sang Un Park , Moon Hyun So , Hwan Young Lee\",\"doi\":\"10.1016/j.fsigen.2024.103007\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p><span><span>In cases of sexual assault, the evidence often exists as a mixture of female and male body fluids, and in many cases, contains a higher proportion of female body fluids than males. 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Several age prediction models were constructed using the MPS data with the multiple </span>linear regression<span>, stepwise linear regression, ridge linear regression, lasso regression<span>, elastic net linear regression and support vector machine analyses, and all showed MAEs of 5 to 7 years in the test set samples. Six single-source female samples were also subjected to MPS analysis but showed very low coverage that could not affect the analysis of the mixed samples. 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引用次数: 0
摘要
在性侵犯案件中,证据往往是女性体液和男性体液的混合物,而且在许多情况下,女性体液的比例高于男性体液。在这种情况下,Y-STR 而不是常染色体 STR 可以提供有用的信息。如果已知疑犯中没有匹配者,或两个或两个以上疑犯存在匹配者,如来自同一父系的两个疑犯,则很难确定真正的疑犯。不过,利用 Y 染色体 CpGs 的 DNA 甲基化进行年龄预测,有助于缩小搜索未知嫌疑人的范围,并区分年龄较大和较小的嫌疑人。因此,我们使用 Illumina 的 Infinium MethylationEPIC BeadChip 阵列生成了 56 名健康韩国男性精液样本的 DNA 甲基化图谱。在确定的位于 Y 染色体的 10 个年龄相关 CpG 标记中,有 9 个被用于构建年龄预测模型。在对 147 份精液样本进行 MPS 分析时,对所确定的标记进行了进一步研究,并通过可靠性、再现性和灵敏度测试对多重分析进行了验证。通过多元线性回归、逐步线性回归、脊线性回归、拉索回归、弹性网线性回归和支持向量机分析,利用 MPS 数据构建了多个年龄预测模型,所有模型在测试集样本中的 MAE 均为 5 至 7 年。六个单一来源的雌性样本也进行了 MPS 分析,但覆盖率很低,无法影响混合样本的分析。因此,本研究的年龄预测模型有望提供有用的调查线索,特别是在性侵犯案件的男女混合样本中。
Age prediction using DNA methylation of Y-chromosomal CpGs in semen samples
In cases of sexual assault, the evidence often exists as a mixture of female and male body fluids, and in many cases, contains a higher proportion of female body fluids than males. In these cases, Y-STR, rather than autosomal STRs, can provide useful information. It becomes very difficult to identify the true suspect if there is no match among known suspects or if a match exists for two or more suspects, e.g. two suspects from the same paternal lineage. However, age prediction using the DNA methylation of Y-chromosomal CpGs can help narrow the search for unknown suspects and discriminate between older and younger suspects. Therefore, the DNA methylation profiles of semen samples from 56 healthy Korean males were generated using Illumina’s Infinium MethylationEPIC BeadChip Array. Among the ten identified age-associated CpG markers located in the Y-chromosome, nine were used to construct age prediction models. The identified markers were further investigated in the MPS analysis of 147 semen samples, and the multiplex assay was validated with the reliability, reproducibility and sensitivity tests. Several age prediction models were constructed using the MPS data with the multiple linear regression, stepwise linear regression, ridge linear regression, lasso regression, elastic net linear regression and support vector machine analyses, and all showed MAEs of 5 to 7 years in the test set samples. Six single-source female samples were also subjected to MPS analysis but showed very low coverage that could not affect the analysis of the mixed samples. Therefore, the age prediction models of the present study are expected to provide useful investigative leads, especially in mixed male and female samples from sexual assault cases.
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.