通过亲子鉴定中的 STR 分析,证明了 vWA、SE33、D8S1179 和 D13S317 基因座的 II 型三等位基因遗传的罕见病例。

IF 1.5 4区 医学 Q2 MEDICINE, LEGAL Forensic Science, Medicine and Pathology Pub Date : 2024-12-01 Epub Date: 2024-02-06 DOI:10.1007/s12024-024-00792-w
Kishor S Gavale, Vaishali B Mahajan, Amulya A Pande, Apurva M Shinde, Vijay J Thakare, Sangita V Ghumatkar
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引用次数: 0

摘要

短串联重复(STR)分型经常被用于亲子鉴定纠纷和法医鉴定相关案件中。由于突变、基因变异和其他异常情况,法医科学家在进行 STR 分型时偶尔会遇到异常等位基因模式。STR 的三等位基因模式非常罕见,尤其是在 4 个位点上都存在这种模式的情况。在此,我们报告了在常规亲子鉴定个案调查过程中,在受孕产物(POC)样本中观察到的 vWA、SE33、D8S1179 和 D13S317 位点的 II 型三等位基因模式。从血液样本和受精产物组织中提取的DNA使用商用QIAGEN公司的Investigator® IDplex Plus试剂盒和QIAGEN公司的Investigator® 24plex QS试剂盒进行常染色体和性染色体STR位点的STR分型。在这个亲子鉴定案例中,POC样本在vWA(16、19、20)、SE33(19、28.2、29.2)、D13S317(16、19、20)和D8S1179(10、13、17)位点上显示出II型三等位基因模式。此外,该 POC 的基因型异常,在 D3S1358、D21S11 和 D16S539 基因位点有杂合峰不平衡(II-B 型),模式为(1:2),在 D1S1639 基因位点有杂合峰不平衡(II-B 型),模式为(2:1):D1S1656、D12S391、D10S1248、D2S1338、D2S441、D18S317、FGA、CSF1PO 和 D5S818 位点的等位基因峰不平衡(II-B 型)模式,以及 D19S433 和 DS7820 位点的等位基因峰不平衡(II-C 型)模式(三倍高度的单峰)。了解了这些异常基因型,就能更好地了解 CODIS 位点的三等位基因模式,有助于正确解释 STR 分型的结果。
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A rare case of type II tri-allelic inheritance at vWA, SE33, D8S1179, and D13S317 loci demonstrated by STR analysis in paternity testing.

Short tandem repeat (STR) typing has been regularly used in paternity disputes and forensic human identification linked caseworks. Occasionally, forensic scientists come across aberrant allele patterns during STR typing because of mutations, genetic variations, and other abnormalities. The tri-allelic pattern of STR is rare, particularly, the case where this pattern exists at 4 loci. Here, we report the type II tri-allelic patterns observed at vWA, SE33, D8S1179, and D13S317 loci in the product of conception (POC) sample during the course of our regular paternity case investigation. The DNA extracted from the blood samples and tissue of POC were subjected to STR typing for autosomal and sex STR loci using the commercial QIAGEN's Investigator® IDplex Plus Kit and QIAGEN's Investigator® 24plex QS Kit. Capillary electrophoresis was carried out in 3500 and 3500xL Genetic Analyzer Applied Biosystems and genotyped using GeneMapper ID-X Software v1.5 and v1.6. In this case of paternity inclusion, the POC sample displayed type II tri-allelic patterns at vWA (16, 19, 20), SE33 (19, 28.2, 29.2), D13S317 (16, 19, 20), and D8S1179 (10, 13, 17) loci. In addition, the POC displayed an abnormal genotype with a heterozygous peak imbalance (type II-B) of (1:2) pattern at D3S1358, D21S11, and D16S539 loci, of (2:1) pattern at D1S1656, D12S391, D10S1248, D2S1338, D2S441, D18S317, FGA, CSF1PO, and D5S818 loci, and type II-C allelic pattern (one single peak with triplicate height) at D19S433 and DS7820 loci. Understanding of such anomalous genotypes improves the knowledge about tri-allelic pattern of CODIS loci and helps in the appropriate interpretation of the results in STR typing.

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来源期刊
Forensic Science, Medicine and Pathology
Forensic Science, Medicine and Pathology MEDICINE, LEGAL-PATHOLOGY
CiteScore
3.90
自引率
5.60%
发文量
114
审稿时长
6-12 weeks
期刊介绍: Forensic Science, Medicine and Pathology encompasses all aspects of modern day forensics, equally applying to children or adults, either living or the deceased. This includes forensic science, medicine, nursing, and pathology, as well as toxicology, human identification, mass disasters/mass war graves, profiling, imaging, policing, wound assessment, sexual assault, anthropology, archeology, forensic search, entomology, botany, biology, veterinary pathology, and DNA. Forensic Science, Medicine, and Pathology presents a balance of forensic research and reviews from around the world to reflect modern advances through peer-reviewed papers, short communications, meeting proceedings and case reports.
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