DNA identification of monozygotic twins

IF 3.2 2区医学 Q2 GENETICS & HEREDITY

Forensic Science International-Genetics Pub Date : 2023-12-13 DOI:10.1016/j.fsigen.2023.102998

Hsiao-Lin Hwa , Chun-Yen Lin , Yu-Jen Yu , Adrian Linacre , James Chun-I. Lee

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引用次数: 0

Abstract

This study details the differentiation of identical twins based on single mutational base differences. There were three pairs of male monozygotic (MZ) twins in this study. DNA samples from blood, a buccal swab or saliva from each individual were all initially genotyped using 22 autosomal STR and 27 Y-STR loci. Preliminary screening confirmed there were no differences in the STR data between each pair of MZ twins. Whole Genome Sequence (WGS) data were generated from DNA extracted from the three body fluids from each individual. Kinship coefficients with 0.4254, 0.4557 and 0.4543 from 3 twins were generated based on WGS data to further confirm that their relationship was that of MZ twins. The fastq data generated by the Illumina Hiseq 2000 between MZ twins were then treated as “normal” as opposed to “tumor” using commercially available software tools to identify mutational single base changes. Sanger DNA sequencing confirmed there were 1, 5 and 9 single base changes found in WGS data from each of the three MZ twin sets. There was individual variation in the mutational base changes when comparing data from the three body fluids. The methods used in this study to differentiate MZ twins based on WGS data can readily be performed in many operational forensic DNA laboratories using user friendly software.

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单卵双胞胎的 DNA 鉴定

这项研究详细介绍了基于单突变碱基差异的同卵双胞胎的分化。本研究有三对男性同卵双胞胎。从每个个体的血液、口腔拭子或唾液中提取的DNA样本都使用22个常染色体STR和27个Y-STR位点进行初始基因分型。初步筛选证实，每对MZ双胞胎之间的STR数据没有差异。全基因组序列(WGS)数据由从每个个体的三种体液中提取的DNA生成。根据WGS数据，对3对双胞胎的亲属关系系数分别为0.4254、0.4557和0.4543，进一步确认其为MZ双胞胎的亲属关系。Illumina Hiseq 2000在MZ双胞胎之间产生的快速q数据随后被视为“正常”而不是“肿瘤”，使用商用软件工具来识别突变的单碱基变化。Sanger DNA测序证实，在三对MZ双胞胎的WGS数据中分别发现了1、5和9个单碱基变化。当比较来自三种体液的数据时，突变碱基的变化存在个体差异。本研究中使用的基于WGS数据区分MZ双胞胎的方法可以在许多可操作的法医DNA实验室中使用用户友好的软件轻松执行。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Forensic Science International-Genetics 生物-医学：法

CiteScore

7.50

自引率

32.30%

发文量

132

审稿时长

11.3 weeks

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.