共查询到18条相似文献,搜索用时 265 毫秒
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法医遗传学领域常利用Y染色体的父系遗传特点,对非重组区遗传标记进行检测并用于亲缘关系鉴定、混合斑检测、家系排查以及种族推断等研究。目前毛细管电泳仍是应用最为广泛的检测技术,基于该技术的商业化检测试剂盒及数据分析处理系统十分成熟。随着生物信息量的增长,传统检测技术通量低的弊端逐渐显现,推动了法医DNA分型技术的革新。近年来,二代测序(next generation sequencing,NGS)技术发展迅速,其应用已被推广到包括法医遗传学在内的各领域,为Y染色体遗传标记的检测提供了新的技术手段。本文就NGS技术应用于法医学Y染色体遗传标记检测的研究现况和应用前景进行阐述,以期为后续司法实务提供新思路。 相似文献
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近几年二代测序(second generation sequencing,SGS)技术的快速发展,使其在通量增大、读长增加的同时测序成本大幅降低,给生物学领域带来了新的突破,也使法医遗传学进入了一个新的发展阶段。本文从测序技术在法医遗传学的应用历程展开,回顾了测序技术对法医学遗传标记检测的重要性。以已有相关法医学研究应用的Roche、Illumina和Life Technologies三大测序技术公司推出的二代测序技术平台为例,探讨其在法医遗传学中的应用现状及潜能。目前可依赖这些平台完成DNA水平遗传标记(SNP、STR)、RNA水平遗传标记(m RNA、micro RNA)及线粒体DNA全基因组的测序。然而,技术产品的推出及验证、分析软件的成熟化、与现有数据库的对接、大数据使用中的伦理问题等都是决定该技术能否替代(或补充)成熟PCR毛细管电泳技术以及普遍应用于案件检测的关键。 相似文献
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二代测序技术可检测多种法医遗传标记获取海量序列信息,满足法医学实践中精准个体识别、复杂亲缘关系鉴定、特征刻画等应用需求。国内外已开展大量二代测序法医学应用科研工作,但由于缺乏行业标准,二代测序在我国公安实战中并未得到有效应用。目前,法医学二代测序的标准制定面临检测靶标特殊、测序技术流程和结果分析不统一等挑战。本文从核酸标准参考物、测序技术要求、序列多态STR等位基因命名规则等方面,梳理国外法医学二代测序标准化工作进展,并总结国内二代测序检测行业标准现状,希冀为我国法医学二代测序的标准建设提供思路和参考。 相似文献
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从犯罪现场遗留的生物斑迹中提取到的DNA样本可能因为长时间暴露于恶劣的环境中而遭受到各种类型的损伤,导致扩增失败不能获得分型结果。对这些受损伤的DNA样本进行修复并提高其检测成功率,是近年来法庭遗传学领域新的研究热点。本文通过对DNA损伤的原因和类型、DNA损伤修复机制、生物检材中DNA损伤修复研究和应用进行综述,希望能对相关研究和应用提供帮助。 相似文献
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Saverio Giampaoli Ph.D. Elisabetta DeVittori M.Sc. Federica Valeriani Ph.D. Andrea Berti Ph.D. Vincenzo Romano Spica M.D. Ph.D. 《Journal of forensic sciences》2017,62(1):192-196
The identification of vaginal fluids in forensic examinations plays an important role in crime scene reconstruction. Molecular detection of vaginal bacterial communities can lead to the correct discrimination of body fluids. These kinds of studies can be performed through multiplex real‐time PCR using primers for a specific selection of bacteria. The availability of next‐generation sequencing (NGS) protocols provided for the extension of the analysis to evaluate the prokaryotes present in specimens. In this study, DNA was extracted from 18 samples (vaginal, oral, fecal, yoghurt) and analyzed by real‐time PCR and NGS. The comparison between the two approaches has demonstrated that the information developed through NGS can augment the more conventional real‐time PCR detection of a few key bacterial species to provide a more probative result and the correct identification of vaginal fluid from samples that are more forensically challenged. 相似文献
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Abstract: The most common markers used in forensic genetics are short tandem repeats (STRs), the alleles of which are separated and analyzed by length using capillary electrophoresis (CE). In this work, proof of concept of a unique STR genotyping approach has been demonstrated using asymmetric PCR and a fluorescence resonance energy transfer (FRET)‐based hybridization analysis that combines fluorophore‐labeled allele‐specific probes and a DNA intercalating dye (dpFRET) in a melt match/mismatch analysis format. The system was successfully tested against both a simple (TPOX) and a complex (D3S1358) loci, demonstrated a preliminary detection limit of <10 genomic equivalents with no allelic dropout and mixture identification in both laboratory‐generated and clinical samples. With additional development, this approach has the potential to contribute to advancing the use of STR loci for forensic applications and related fields. 相似文献
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下一代测序技术具有高通量、高速度、集成化、低成本等显著优势,近年来已在科研和临床诊断领域得到广泛应用,在法医遗传学领域亦具有重要应用前景。当前主流的STR分型方法仅关注序列的长度多态性,然而由于核心重复结构存在差异或扩增区段内存在SNP,序列长度相等的等位基因可能是具有遗传稳定性的完全不同的等位基因,此类STR序列多态性是个体识别或亲缘关系分析的宝贵资源。基于下一代测序的STR分型在现有数据输出方式基础上,允许进一步关注STR的序列多态性,对STR基因座进行全解析度分型,显著提升STR基因座的个体识别能力。本文以法医STR遗传标记和下一代测序技术为关注焦点,系统综述基于下一代测序的全解析度STR分型领域国际最新研究进展,深入探讨该技术在法医DNA实验室的实际应用潜力和可能面临的挑战,希冀对相关研究和实践提供参考。 相似文献
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Schneider PM 《Forensic science international》2007,165(2-3):238-243
Forensic molecular genetics has evolved from a rapidly developing field with changing technologies into a highly recognized and generally accepted forensic science, leading to the establishment of national DNA databases with DNA profiles from suspects and convicted offenders. DNA evidence has taken a central role by carrying a significant weight for convictions, as well as by excluding innocent suspects early on in a criminal investigation. Due to this impact on the criminal justice system, guidelines for research in forensic genetics have been introduced already since many years. The most important issues regarding the selection and definition of typing systems both for paternity testing and for forensic identification, the criteria for technical and biostatistical validation, as well as the use of mitochondrial DNA analysis are summarized and discussed. 相似文献
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Carolyn A. Lewis B.S. Tiffany R. Layne M.S. Sarah J. Seashols‐Williams Ph.D. 《Journal of forensic sciences》2019,64(6):1823-1830
Molecular‐based approaches for biological source identification are of great interest in the forensic community because of a lack of sensitivity and specificity in current methods. MicroRNAs (miRNAs) have been considered due to their robust nature and tissue specificity; however, analysis requires a separate RNA extraction, requiring an additional step in the forensic analysis workflow. The purpose of this study was to evaluate miRNA detection in blood, semen, and saliva using DNA extraction methods commonly utilized for forensic casework. RT‐qPCR analysis revealed that the tested miRNAs were consistently detectable across most tested DNA extraction methods, but detection was significantly reduced compared to RNA extracts in some biological fluids. DNase treatment was not necessary to achieve miRNA‐specific results. A previously developed miRNA panel for forensic body fluid identification was evaluated using DNA extracts, and largely demonstrated concordance with results from samples deriving from RNA extracts of semen, blood, and saliva. 相似文献
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《Forensic Science International: Genetics Supplement Series》2019,7(1):180-181
The identification of species in casework samples is of fundamental importance for forensic investigations. Laboratories are increasingly compelled to provide accurate and fast identifications in trace materials left on crime scenes, wildlife poaching, illegal trade of protected species, fraudulent food products cases, etc. However, the field of nonhuman forensic genetics is still working on the standardization of typing methods and practices. Here we describe the successful implementation of the Species Identification by Insertions/Deletions (SPInDel) method in routine casework analyses in 11 laboratories worldwide. The SPInDel was developed to detect human DNA, at the same time that identifies common animal species. The fragment size analysis of six mtDNA regions allows identification in suboptimal DNA samples, including mixtures, with no need for sequencing. The samples were collected from 2013 to 2018 and included hair, blood, meat, saliva, faeces, bones, etc. The SPInDel kit successfully identified >95% of the samples, being dog, human and pig the most frequently detected species. The six SPInDel loci were successfully amplified in mixtures and degraded samples (river water, sand, stains in clothes, etc.). Interestingly, several species that were not originally targeted by SPInDel primers were also identified (e.g., red fox, brown bear, fallow deer and red deer). In conclusion, the SPInDel kit was successfully used in crime scene investigations (often involving human DNA detection) and in cases of poaching, environmental contamination and food fraud. It is now becoming a useful tool for the routine analysis of nonhuman DNA samples within the high quality standards of forensic genetics. 相似文献
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《Science & justice》2020,60(1):1-8
Human biological samples with multiple contributors remain one of the most challenging aspects of DNA typing within a forensic science context. With the increasing sensitivity of commercially available kits allowing detection of low template DNA, complex mixtures are now a standard component of forensic DNA evidence. Over the years, various methods and techniques have been developed to try to resolve the issue of mixed profiles. However, forensic DNA analysis has relied on the same markers to generate DNA profiles for the past 30 years causing considerable challenges in the deconvolution of complex mixed samples. The future of resolving complicated DNA mixtures may rely on utilising markers that have been previously applied to gene typing of non-forensic relevance. With Massively Parallel Sequencing (MPS), techniques becoming more popular and accessible even epigenetic markers have become a source of interest for forensic scientists.The aim of this review is to consider the potential of alleles from the Human Leukocyte Antigen (HLA) complex as effective forensic markers. While Massively Parallel Sequencing of HLA is routinely used in clinical laboratories in fields such as transplantation, pharmacology or population studies, there have not been any studies testing its suitability for forensic casework samples. 相似文献