Editorial: Social Justice Research—The Next Generation

Social Justice Research -     

Current Next Generation Sequencing technology may not meet forensic standards

In a Nature paper of 2010, the concern was raised that intra-individual mtDNA variation may be more pronounced than previously believed, in that heteroplasmies are common and vary markedly from tissue to tissue. This claim taken at face value would have considerable impact on forensic casework. It turns out however that the employed technology detected the germ-line variation relative to the reference sequence only incompletely: on average at least five mutations were missed per sample, as an in silico reassessment of the data reveals. Before one can really set out to access to entire mtDNA genome data with relative ease for forensic purposes, one needs careful calibration studies under strict forensic conditions—or might have to wait for another generation.     

运用法医学二代测序技术侦破19年久冷案

基于Y染色体STR(Y-STR)多态性的男性家系排查技术帮助全国各地破获了诸多冷案积案。然而对于出现明显降解的生物检材,或因检出Y-STR基因座数量过少而无法开展有效排查。STRSeqTyperY68男性家系精细化排查试剂盒,定位于二代测序技术,利用Mi Seq FGx二代测序平台可单管实现52个单拷贝Y-STR基因座、6个二拷贝Y-STR基因座、1个三拷贝Y-STR基因座和1个性别判定基因座的分型检测,并能同时支持STR长度和/或序列多态分型,全部基因座扩增子长度在350bp以下,且其中62个不大于300bp,适用于降解检材的检测。本文报道一起长达19年未破的强奸杀人案,用传统STR检测方法仅得到24个Y-STR基因座分型,部分300bp以上的Y-STR片段未检出,但通过二代测序方法使用STRSeqTyperY68试剂盒完整得到了67个Y-STR和1个性别基因座分型,从而帮助办案单位锁定了嫌疑人所在的男性家系,为案件侦破提供了关键技术支撑。     

基于下一代测序的全解析度STR分型研究进展与展望

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。     

二代测序技术在Y染色体遗传标记分型中的法医学应用

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...     

运用二代测序技术拆分混合STR分型

目的探讨二代测序技术在混合STR分型拆分中的应用。方法对一例强制猥亵妇女案中受害人颈部的拭子和血样作DNA提取,以Precision ID GlobalFiler^TM NGS STR Panel v2试剂盒制备文库,经Ion S5测序仪测序,运用Torrent_Suite_v5.2.1软件进行数据分析后,将检测基因座的序列多态STR分型与长度多态STR分型进行比较。结果在D8S1179、D21S11、D2S441、D2S1338、D10S1248五个基因座发现存在序列特异的等位基因亚型,利用这些亚型对混合STR分型进行了成功拆分。结论二代测序技术提供的等位基因序列信息可对混合STR分型的拆分起到帮助作用。     

法医学二代测序STR分型准确度与测序深度的关联性评估

目的利用实验数据对法医学二代测序STR分型测序深度与分型结果准确度的关联性进行评估。方法使用商业化基因组DNA制备单一来源和混合的DNA样本,以Thermo Fisher公司的25重早期测试试剂盒进行目的STR片段扩增,每种扩增产物分别使用4种不同的序列标签平行建库,并控制标记每一种序列标签的文库上机量依次占一张Ion 318芯片的1/4、1/8、1/16、1/32。经Ion PGMTM基因测序仪测序,以及Ion Torrent SuiteTM软件进行数据分析;同时对庞敬博等人发表的基于相同试剂盒和测序仪检测的95名中国汉族无关个体的6928条等位基因、影子峰和噪音序列进行测序深度统计分析,寻找测序深度与STR分型准确度的关联性。结果各基因座测序深度随文库上样量减少而呈明显下降趋势。对于单一来源样本,每张芯片上样不超过8个均一化文库可实现全部基因座的完整分型;对于1∶20比例的混合DNA,每张芯片上样不超过4个均一化文库时,未发现微量组分的等位基因丢失。人群数据测序深度统计显示,该体系基因座间存在不均衡性,有必要针对各基因座分别设定分析阈值参数。结论测序深度与法医学STR分型结果的准确性密切相关,各基因座最低测序深度与平均测序深度的比值可作为设定分析阈值的重要参考指标。本研究确定的单张芯片上样数量仅适用于本实验体系,但相关实验设计和方案可供其他实验体系开展类似工作参考。     

The Next Frontier: Dual Nationality as a Multi-layered Concept

Scholarly debate, legal rules and policy on dual nationality suffer from a fatal flaw: the various situations of dual nationality are conflated in one single category, linked to a single policy. This article argues that the debate would win in clarity if the various situations were untangled. In order to demonstrate the need for more discrimination in situations of multiple citizenship, two cases are discussed: the first one relates to the various situations which may come under the heading of dual nationality. In particular, the argument is made that dual nationality arising out of birthright citizenship should not be confused with situations where a second nationality is voluntarily acquired. The second case where more segregation is in order relates to the treatment of the two nationalities possessed by an individual. The argument goes that the two nationalities should not be treated on equal par, as they rarely have the same value and weight.

     

“十一五”，金山软件正走向国际化

在中央提出的“十一五”规划中,特别强调了信息产业,要根据数字化、网络化、智能化总体趋势, 大力发展集成电路、软件等核心产业,重点培育数字化音视频、新一代移动通信、高性能计算机及网络设备等信息产业群,加强信息智能开发和共享,推进信息技术普及和应用。金山软件有限公司作为国内知名的软件企业,其所处的行业——软件信息产业,对知识产权制度的依赖程度非常高,金山软件公司如何应对这个规划,吸引了不少业内人士的注意。     

Next generation sequencing coalesced into capillary electrophoresis to analyze mutations from paternity testing

Objective To coalesce capillary electrophoresis into next generation sequencing for exploring the mutational patterns among STR loci from paternity testing. Methods From 2600 cases of confirmed paternity, the relevant STR loci were screened with PowerPlex21 kit, thus having 67 cases found of mutations that involved with 196 samples (relating to 62 trios and 5 duos) which were afterwards detected through SeqTyper®24 to construct the correlative library. Further, Ion PGM™ platform was adopted to carry out next generation sequencing. Results There were 12 STR loci having been found of totaling 71 mutations, among which the mutant ratio of paternal to maternal was 3.13:1. Single one-locus mutations were observed in 64 cases, with the two-locus’ in two cases and the three-locus’ in one case. For some mutations, it is difficult to determine whether there has been increased or decreased of a step from the capillary electrophoretic results of STR loci. In contrast, next generation sequencing can clarify the inheritance route and mutational pattern. Conclusion For the locus harboring complex core sequence and/or incomplete repetitive unit, next generation sequencing is able to identify and confirm certain mutations, having the inheritance of alleles observed more directly from the microscopic DNA base sequences. © 2021, Editorial Office of Forensic Science and Technology. All rights reserved.     

试论流域生态补偿基金制度的构建

流域生态补偿基金制度是法律对流域生态补偿基金性质和资金的来源方式、使用、保值增值、管理等所作的系统性的规定,是流域生态补偿基金的规范化、系统化、法制化理论依据、现实必要性和可行性探索的法律规范的集合。构建流域生态补偿基金制度有利于衡平流域生态利益、保护流域生态环境,对流域生态可持续发展具有重要意义。     

论犯罪的生成机理--犯罪生成的社会学分析

犯罪是一种法律社会现象 ,既离不开法律的规定 ,也要以社会事实为基础。因此 ,认为犯罪不以一定的社会事实为基础只由法律规定而产生或者相反都是错误的。对于犯罪的生成既要以法律规定为标准进行规范性理解 ,也要着眼于社会现象、社会事实进行社会学理解     

新一代遗传标记——InDel研究进展

法医DNA分型经历了三代遗传标记的研究,短串联重复序列(short tandem repeat,STR)作为比较成熟的工具已被广泛运用于法医生物学鉴定中。进一步对人类基因组的探索,先后发现了单核苷酸多态性(single nucleotide polymorphism,SNP)、插入/缺失(Insertion/Deletion,InDel)等一系列遗传标记,而其中InDel作为新型的遗传标记,基本兼具各类遗传标记的优点,受到包括医学分子生物学和法医生物学在内各领域的广泛关注。本文就InDel的研究历史与相应的成果进行简单总结与回顾,以时间轴与研究目的为主要的分类指标,重点关注以多个InDel联合作为遗传标记的多重扩增系统(常染色体或X染色体)在法医生物学及人类学研究中的进展,并对今后该领域研究的方向与暨待解决的问题进行了综述。