中国汉族人群中Dia抗原和Dib抗原的分子遗传分析

目的研究中国汉族人群Diego血型系统中Dia和Dib抗原表达的分子遗传背景。方法采用血型血清学方法对2990例非血缘关系的捐血者进行Diego血型鉴定,从中随机选择20例表现型为Di(a-b )的样本,以及筛选到的所有Di(a b-)稀有血型样本,采用PCR-SSP、DNA直接测序方法分析Diego血型基因的分子遗传背景。结果2990例捐血者中,发现Di(a b-)表现型2例,Di(a b )167例,Di(a-b )2821例。随机选择的20例表现型为Di(a-b )的DNA样本,经PCR-SSP法检测的基因型为DI2DI2,对DI基因第19外显子直接测序,2561位上碱基为C。2例稀有血型Di(a b-)的DNA序列在19外显子2561位上碱基为T,基因型为DI1DI1。结论中国汉族人群Dia和Dib抗原表达的分子遗传基础是DI基因第19外显子2561位上碱基T-C的置换,引起第854位氨基酸的改变。     

Let's Get Public Administration Right,But in What Sequence?: Lessons from Japan and Singapore

The so‐called Good Governance Model requires perfect public administration that is accountable, efficient, equitable, representative, responsive and transparent and that respects the rule of law. Accordingly, the Good Governance Movement promotes a variety of public administration reforms worldwide. However, the effectiveness of promoting all kinds of administrative reforms at once is in question, because that could overwhelm the reform capability of countries, and more important, some reforms can compete with, rather than complement, one another. Such scenarios are possible, and the implication is clear: administrative reform discourse must consider how to best sequence and prioritize reforms, the outcomes of which must be identified. The experiences of Japan and Singapore offer some insight into this. This study first codifies administrative reforms by using the concepts of administrative themes, and it systematically traces, compares and contrasts reforms in both countries in light of these themes. This leads to the conclusion that the sequences in which administrative reforms evolved in those places contributed to dissimilarities in their administrative traditions today. Copyright © 2015 John Wiley & Sons, Ltd.     

Comparison of Commercial Kits for Recovery and Analysis of Bacterial DNA From Fingerprints

In forensic science, fingerprints are a common source of evidentiary information. However, latent examination is not always successful and trace human DNA cannot always be obtained. Thus, examining the fingerprint microbiome may offer a suitable alternative to more traditional methods of forensic identification. The Zymo Research ZR Bacterial/Fungal DNA MicroPrep™ Kit, Qiagen QIAmp^® DNA Mini Kit, Promega Wizard^® Genomic DNA Purification Kit, and the MPBio FastDNA^® Spin Kit were compared for their ability to yield a sufficient amount of bacterial DNA for next-generation sequencing in order to obtain a microbiome profile. Prints were deposited onto slides, allowed to sit for up to 1 month, and total DNA isolated and quantified using each kit. The kit from Zymo Research yielded the most concentrated DNA sample (0.0084 ng/µL) in the least amount of time as compared to other kits examined. Although this amount of DNA was far below the recommended DNA concentration threshold recommended for next-generation sequencing, a microbiome profile was successfully obtained. As interest in using the microbiome of an individual as a forensic tool continues to increase, there is the possibility that the microbiome of a fingerprint could complement traditional human DNA profiling in the future. This study provides evidence that trace amounts of bacterial DNA from fingerprints is quantifiable and sufficient for microbiome analysis.     

青海省羊源细粒棘球蚴EG95基因的克隆与序列分析

从青海省羊源细粒棘球蚴中提取基因组DNA ,用EG95特异性引物进行PCR扩增 ,并克隆至 pGEM TEasy载体上 ,经PCR、EcoRⅠ酶切和测序鉴定后 ,用DNAstar软件对 3个克隆的DNA序列进行同源性分析。结果表明 ,EG95基因的 3个序列 (EG95 QH 1、EG95 QH 2和EG95 QH 3)的片段大小为 14 35～ 14 37bp ,与GenBank中的EG95基因同源性为 73.2 %～99.2 % ,差异集中在内含子区域。其中EG95 QH 1、EG95 QH 3与GenBankEG95XJ ag、EG95 4序列的同源性较高 ;EG95 QH 2与GenBank中EG95 1、EG95 2、EG95 3序列的同源性较高。研究结果表明 ,青海羊源细粒棘球蚴EG95基因的 3个序列为EG95基因家族的成员。     

荧光检验法在朱墨时序鉴定中的应用研究

朱墨时序鉴定一直是文书司法鉴定实践中常见的鉴定项目,也是研究的热点和疑难问题.通过实验研究并结合检案实践,较系统地阐述了视频荧光光谱检验法和显微荧光检验法在朱墨时序鉴定的具体应用,探讨了荧光检验的技术要点.研究表明,荧光检验法（特别是显微荧光检验法）具有普通显微检验法的优点,同时对普通显微检验法中难以观察到的印文或文字色料荧光特性及色料的微观分布状态,具有明显的检验效果,是普通显微检验法有效的补充检验手段.     

新一代高通量测序技术及其法医学应用前景

随着大规模基因组学的兴起,多种高通量、低成本的新一代测序技术应运而生,并逐步被应用到生命科学研究的各个领域.本文对新一代测序技术进行综述介绍,并对其在法医学领域中的应用前景进行展望.     

Discordance at D3S1358 locus involving SGM Plus™ and the European new generation multiplex kits

During the course of routine database sample analysis in the Israel Police DNA database, an off-ladder D3S1358 allele, calculated to be >22.1, extending into the adjacent vWA locus was observed using Applied Biosystems SGM Plus™ kit.To verify the size of this D3S1358 long allele and to ensure it was not part of a trialle pattern in the neighboring locus, the sample was amplified using three of the European new generation STR multiplex kits: NGM^TM (Applied Biosystem), Powerplex™ ESX and ESI (Promega). The results of these amplifications determined the variant to be a 22 allele. Subsequent sequencing confirmed this designation and revealed a nucleotide polymorphism. Ten additional SGM Plus™ profiled samples with D3S1358 alleles larger than 19, were re-analyzed using NGM^TM and Powerplex™ ESX which also showed discordance in the calculated results between original SGM Plus™ designations and those obtained with the European new generation multiplexes.     

二代测序技术在法医学中的应用

随着二代测序技术的快速发展,其高通量和低成本在生命科学领域应用广泛,测序的通量更高,测序时间和成本不断下降,使得其被广泛应用于微生物研究、古DNA研究、临床诊断、法医学研究等。本文阐述了二代测序技术平台及其遗传标记在法医学中的应用,包括STR分型、SNP分型、HLA基因型预测以及在降解检材中的应用等。     

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。     

Extraction of DNA from Skeletonized Postcranial Remains: A Discussion of Protocols and Testing Modalities

This paper provides a retrospective of the DNA analysis performed by the Armed Forces Medical Examiner–Armed Forces DNA Identification Laboratory between 1990 and 2018. Over 13,000 postcranial osseous materials, comprised of wartime losses from World War II, the Korean War, and South‐East Asia, were examined by the following: mitochondrial DNA sequencing, a modified AmpFlSTR® Yfiler?, AmpFlSTR® MiniFiler?, PowerPlex® Fusion, or NGS. Four different DNA extraction protocols were used: incomplete demineralization coupled with an organic purification; complete demineralization with an organic purification; complete demineralization with an inorganic purification using QIAquick PCR Purification Kit; and a protocol designed specifically for use with next‐generation sequencing. In general, complete demineralization coupled with an organic purification was the optimal extraction protocol for sequencing of mitochondrial DNA, regardless of the osseous element tested. For STR testing, demineralization paired with an inorganic purification provided optimum results, regardless of kit used or osseous element tested.