Da Yang , Sheng Xuan Ma , Guo Liang Zhao , Ao Gao , Zhao Kun Xu
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Herein, we used the simulation program of the software GeneVisa to investigate the effects of genetic linkage on 1st-degree, 2nd-degree, and 3rd-degree kinship testing. We used this software to simulate LR<sub>linkage</sub> and LR<sub>ignore</sub> values based on 43 STRs and 134 SNPs in commercial kits by using the allele frequency rate and genetic distance data of the European population. The effects of linkage on LR distribution and LRs of routine cases were investigated by comparing the LR<sub>linkage</sub> values with the LR<sub>ignore</sub> values. Our results revealed that the linkage effect on LR distributions is small, but the effect on LRs of routine cases may be large. Moreover, the results indicated that the discriminatory power of genetic markers for kinship testing can be improved by accounting for linkage.</p></div>","PeriodicalId":49913,"journal":{"name":"Legal Medicine","volume":null,"pages":null},"PeriodicalIF":1.3000,"publicationDate":"2024-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Determining the effects of genetic linkage when using a combination of STR and SNP loci for kinship testing\",\"authors\":\"Da Yang , Sheng Xuan Ma , Guo Liang Zhao , Ao Gao , Zhao Kun Xu\",\"doi\":\"10.1016/j.legalmed.2024.102441\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>The pedigree likelihood ratio (LR) can be used for determining kinship in the forensic kinship testing. LR can be obtained by analyzing the DNA data of Short tandem repeat (STR) and single nucleotide polymorphism (SNP) loci. With the advancement of biotechnology, increasing number of genetic markers have been identified, thereby expanding the pedigree range of kinship testing. Moreover, some of the loci are physically closer to each other and genetic linkage between loci is inevitable. LRs can be calculated by accounting for linkage or ignoring linkage (LR<sub>linkage</sub> and LR<sub>ignore</sub>, respectively). GeneVisa is a software for kinship testing (<span>www.genevisa.net</span><svg><path></path></svg>) and adopts the Lander–Green algorithm to deal with genetic linkage. Herein, we used the simulation program of the software GeneVisa to investigate the effects of genetic linkage on 1st-degree, 2nd-degree, and 3rd-degree kinship testing. We used this software to simulate LR<sub>linkage</sub> and LR<sub>ignore</sub> values based on 43 STRs and 134 SNPs in commercial kits by using the allele frequency rate and genetic distance data of the European population. The effects of linkage on LR distribution and LRs of routine cases were investigated by comparing the LR<sub>linkage</sub> values with the LR<sub>ignore</sub> values. Our results revealed that the linkage effect on LR distributions is small, but the effect on LRs of routine cases may be large. 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引用次数: 0
摘要
血统似然比(LR)可用于确定法医亲属关系测试中的亲属关系。LR 可通过分析短串联重复(STR)和单核苷酸多态性(SNP)位点的 DNA 数据获得。随着生物技术的发展,越来越多的遗传标记被鉴定出来,从而扩大了亲属关系检验的血统范围。此外,一些基因位点之间的物理距离较近,基因位点之间的遗传联系不可避免。LRs 可以通过考虑或忽略联系(分别为 LRlinkage 和 LRignore)来计算。GeneVisa 是一种亲缘关系测试软件(www.genevisa.net),采用 Lander-Green 算法处理遗传连锁。在此,我们使用 GeneVisa 软件的模拟程序来研究遗传连锁对一级、二级和三级亲缘测试的影响。我们利用该软件,通过欧洲人群的等位基因频率和遗传距离数据,模拟了基于商业试剂盒中 43 个 STR 和 134 个 SNP 的 LRlinkage 和 LRignore 值。通过比较 LRlinkage 值和 LRignore 值,研究了连锁对 LR 分布和常规病例 LR 的影响。结果表明,连锁对 LR 分布的影响较小,但对常规病例 LR 的影响可能较大。此外,研究结果表明,遗传标记在亲缘关系检测中的鉴别力可以通过考虑连锁效应而得到提高。
Determining the effects of genetic linkage when using a combination of STR and SNP loci for kinship testing
The pedigree likelihood ratio (LR) can be used for determining kinship in the forensic kinship testing. LR can be obtained by analyzing the DNA data of Short tandem repeat (STR) and single nucleotide polymorphism (SNP) loci. With the advancement of biotechnology, increasing number of genetic markers have been identified, thereby expanding the pedigree range of kinship testing. Moreover, some of the loci are physically closer to each other and genetic linkage between loci is inevitable. LRs can be calculated by accounting for linkage or ignoring linkage (LRlinkage and LRignore, respectively). GeneVisa is a software for kinship testing (www.genevisa.net) and adopts the Lander–Green algorithm to deal with genetic linkage. Herein, we used the simulation program of the software GeneVisa to investigate the effects of genetic linkage on 1st-degree, 2nd-degree, and 3rd-degree kinship testing. We used this software to simulate LRlinkage and LRignore values based on 43 STRs and 134 SNPs in commercial kits by using the allele frequency rate and genetic distance data of the European population. The effects of linkage on LR distribution and LRs of routine cases were investigated by comparing the LRlinkage values with the LRignore values. Our results revealed that the linkage effect on LR distributions is small, but the effect on LRs of routine cases may be large. Moreover, the results indicated that the discriminatory power of genetic markers for kinship testing can be improved by accounting for linkage.
期刊介绍:
Legal Medicine provides an international forum for the publication of original articles, reviews and correspondence on subjects that cover practical and theoretical areas of interest relating to the wide range of legal medicine.
Subjects covered include forensic pathology, toxicology, odontology, anthropology, criminalistics, immunochemistry, hemogenetics and forensic aspects of biological science with emphasis on DNA analysis and molecular biology. Submissions dealing with medicolegal problems such as malpractice, insurance, child abuse or ethics in medical practice are also acceptable.