一种新型的 STR 位点三带模式

IF 3.2 2区医学 Q2 GENETICS & HEREDITY Forensic Science International-Genetics Pub Date : 2024-05-26 DOI:10.1016/j.fsigen.2024.103064

B. Rolf, A. Phillip, K. Hannig, S. Köhler, I. Göttesdorfer

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引用次数: 0

摘要

SE33 或 ACTBP2 是许多国家 DNA 数据库中多态性最高的位点，也是用于对犯罪现场样本和参考样本进行分型的商业 STR 检测试剂盒中多态性最高的位点。我们描述了在几个样本中出现 SE33 三带模式的分子原因。SE33 侧翼区域的 SNP 会导致未标记的 D3S1358 引物结合。结果，由标记的 SE33 引物和 D3S1358 引物产生的 "嵌合 "PCR 产物比常规的 SE33 扩增子要小。我们称之为 "3 型三条带模式"，因为其遗传基础不同于由体细胞嵌合引起的 1 型三条带模式和由拷贝数变异引起的 2 型三条带模式。

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A novel type of three band pattern at STR loci

SE33 or ACTBP2 is the most polymorphic locus in many national DNA databases and in the commercial STR kits used to type both crime scene samples and reference samples to populate these databases. We describe the molecular reason for a three band pattern of SE33 seen in several samples. A SNP in the flanking SE33 region causes the binding of the unlabelled D3S1358 primer. As a result, a “chimeric” PCR product of the labelled SE33 primer and the D3S1358 primer is generated that is smaller than the regular SE33 amplicon. We call this “Type 3 three band pattern” as the genetic base differs from the Type 1 three band pattern caused by somatic mosaicism and the Type 2 that results from copy number variation.

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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.