人类反转座核元件甲基化研究进展

人类反转座核元件LINE-1序列和Alu序列甲基化水平的变化与多种疾病的发生、发展有密切的联系,因此是相关疾病,尤其肿瘤和癌症预测、诊断、治疗及预后的新标记。近年来,二者在法医学方面的研究也逐渐展开,主要集中在同卵双生子的鉴别、年龄的鉴定、组织的鉴定等方面,有望成为法医DNA分析领域新一代的遗传标记。本文综述LINE-1序列和Alu序列甲基化在医学、法医学等领域的研究进展,希望能为相关研究和应用提供参考。     

法医物证学miRNA分析的研究进展

在种属和体液鉴定及降解检材等特殊案件的分析时,转录水平的miRNA所具有的生物属性及表达特点,使其能够发挥基因组DNA所不具备的价值。本文通过概述法医物证学miRNA研究的现状,对法医miRNA分析的研究策略和法医物证学应用前景进行了综述,以期为法医miRNA分析的应用研究提供借鉴。     

法医SNP系谱推断技术研究进展

法医SNP系谱推断技术是利用基因组中的高密度SNP数据，基于血缘同源片段长度分析等算法，推断远亲缘关系的一种新型侦查技术手段。与传统STR亲缘关系鉴定方法相比，法医SNP系谱推断技术可以分析更远的亲缘关系，且可以在社会公共DNA数据库中进行家族关系搜索，应用场景更为广阔，包括犯罪嫌疑人查找、受害者的身源鉴定、失踪人口寻找等。本文就法医SNP系谱推断技术的遗传学原理、高密度SNP分型技术、常用的推断算法以及在低质量DNA中的应用等方面的研究进展进行阐述，以期为该技术应用时选择合适的检测技术和亲缘关系分析算法提供思路。     

动物DNA分析技术及其法医学应用

动物DNA分析是法医非人源DNA分析的重要内容,对提供侦查线索和审判依据具有特殊的法医学价值.法医动物DNA分析主要涉及家养动物和野生动物两大类别.本文以动物DNA分析在法庭科学中的应用为切入点,综述了动物个体识别、亲缘鉴定、物种鉴定等,动物DNA分析中的遗传标记、检测技术等,并提出法医动物DNA分析存在的问题以及未来...     

表观遗传学在法医学应用探讨

表观遗传学指没有DNA序列变化的、可遗传的基因表达改变。主要包括DNA甲基化、X染色体剂量补偿、组蛋白修饰、基因组印记、表观基因组学和人类表观基因组计划等方面的内容。在法医实际检案中常遇到一些特殊问题,如妊娠期胎儿父权的认定,单亲鉴定中亲代必需等位基因的确定,同卵双生子的区分,微量组织来源的鉴定等。本文对表观遗传学的基本内容和在法医学中的应用进行综述,以期为相关研究及实践提供参考。     

生物信息学在法医学中的应用与展望

自DNA指纹技术应用于司法实践的报道以来,法医DNA分析发挥着越来越重要的作用。近年来,随着基因组学高通量测序技术的快速发展,生物信息学分析手段也逐渐开始与法医学应用结合,极大地扩展了法医物证的分析能力。本文综合阐述了法医遗传学所涉及的基因组、表观组以及转录组生物信息分析相关研究现状以及发展趋势。     

全基因组扩增技术应用于法医学的进展

全基因组扩增(whole genome amplification,WGA)技术是一种对全部基因组序列进行非选择性扩增的技术。对微量模板DNA的检验,一直是法医物证学特别关注和急需解决的难题之一。近年来,对WGA技术的的研究发展日渐深入,研究成果有望应用于法医DNA检验中各类微量检材的检验。本文综述了WGA技术在法医物证学中的研究进展和应用前景,为法医物证工作者提供参考。     

DNA检验技术在野生动物保护中的应用

随着生物技术的发展,法医DNA检验技术在保护野生动物的工作中得到了越来越多的应用.本文介绍了全球野生动物犯罪现状及保护措施,简述了法医DNA检验技术在野生动物物种鉴定、来源地确认、个体识别和亲子鉴定等方面的实际应用,重点评述了法医DNA技术用于野生动物保护的几种常用检验方法以及各自的优缺点,探讨了法医DNA技术用于野生...     

二代测序技术在法医遗传学中的应用研究进展(2011～2016)

对生物检材进行DNA分型是解决法医遗传学实践中个体识别和亲权鉴定问题的重要步骤,法医学实践中复杂生物检材和复杂亲缘关系鉴定等一直是现有的检测分析技术的难点和挑战。随着DNA技术的发展,新的检测分析技术不断引入到法医遗传学领域,以期提高检测效能。二代测序技术具有测序通量高、成本低等特点,能够获得样本DNA详细序列和相对含量等信息,有助于生物检材的检测和案件的分析。二代测序技术在法医遗传学领域的应用受到广泛关注,相关的应用研究逐渐增多。本文就目前法医遗传学领域借助二代测序技术对遗传标记分析的研究进展进行总结,希望能为相关研究和应用提供参考。     

全基因组扩增技术及其在法医遗传学中的应用前景

全基因组扩增技术是近年来发展起来的新型PCR技术,它提供了一种从微量基因组DNA获取大量遗传信息的途径,为法医处理微量检材提供了一个有用的工具。本文综述了全基因组技术及其种类和原理和其在法医遗传学方面的应用前景。     

PCR-RFLP分析线粒体DNA细胞色素b基因用于法医学种属鉴定

目的建立一种PCR-RFLP分析线粒体DNAcyt b基因用于法医学种属鉴定的方法。方法采用一对通用引物扩增人及15种常见动物的线粒体DNAcyt b基因,扩增产物经内切酶Alu I酶切,分析不同动物DNA扩增产物的有无以及酶切前后的变化。结果所检动物中有9种DNA有扩增产物,经内切酶Alu I酶切后,除鳝鱼外都能与人类DNA相区别。结论PCR-RFLP分析线粒体DNAcyt b基因方法简单,结果可靠,是一种较好的法医学种属鉴定方法。     

A more sensitive method for the quantitation of genomic DNA by Alu amplification

Current procedures for human DNA quantitation reach their limit at 150 pg DNA, which is above the limit of the PCR profiling range using Profiler-Plus (Applied Biosystems, CA). This study tested the potential for the use of primate specific Alu sequences in forensic science for the sensitive detection and quantitaion of DNA. A fluorescently labelled primer pair was designed enabling high efficiency amplification of the core Alu sequence within primate DNA. Quantitation was performed by measurement of fluorescence intensity and comparison to a series of standard template DNA amounts via the construction of a standard curve. The new Alu-based quantitation protocol developed has shown its feasibility in more sensitively quantitating (100-2.5 pg) unknown amounts of human DNA for forensic use. The method is compatible with the use and throughput of current forensic procedures.     

用引物Y_3、Y_4和PCR方法鉴定性别的法医学应用

用Y3、Y4和Alu9．1、Alug．2两对引物和PCR方法检测陈旧血痕和毛根的性别获得成功。引物Y3、Y4扩增的靶序列位于Y染色体特异3．4Kb重复序列中，扩增产物为460bp；引物Alu9．1、Alu9.2用以扩增男女共有的Alu重复序列，扩增产物为130bP。室温保存13年之久的19例脐带血血痕（男性9冽，女性10例）和室温保存10～11个月的10例已知性别自然脱落毛根（男性6例，女性4例）的性别测定结果均正确；对一起凶杀案的血痕性别测定为定案提供了重要证据。本方法简化了样品的前处理过程。     

ABO genotyping by polymerase chain reaction.

ABO blood group system's genotyping by polymerase chain reaction in genomic DNA level is developed. The positions of nucleotide 258 and 700 of cDNA from A transferase were used to distinguish A, B, and O alleles by restriction enzyme digestion. To identify the 258th nucleotide, a 199- or 200-bp DNA fragment was amplified by PCR and digested with Kpn I. For the 700th nucleotide, a 128-bp PCR amplified fragment was designed and digested with Alu I. By examining the DNA fragment digested patterns, ABO genotypes were easily determined. Results obtained using this method on 20 ABO-known peripheral blood samples showed that this new technique could provide accurate ABO genotype. Biologic forensic samples, such as, blood stains, saliva stains, semen stains, hair, bone tissue, and semen contaminated with vaginal secretion were also successfully typed. This rapid, sensitive and reliable method should be applicable not only in forensic identification but also in medical examination.     

Development of an Alu-based,QSY 7-labeled primer PCR method for quantitation of human DNA in forensic samples

Determining the amount of human DNA extracted from a crime scene sample is an important step in DNA profiling. The forensic community relies almost entirely upon a technique (slot blot) to quantitate human DNA that is imprecise, time consuming, and labor intensive. This paper describes the development of a new technique based on PCR amplification of a repetitive Alu sequence. Specific primers were used to amplify a 124-bp fragment of Alu sequence; amplification was detected by SYBR Green I staining in a fluorescent plate reader. To reduce background in the plate reader assay, QSY-7 labeled primers were utilized. The assay was tested on animal DNAs, human blood spots, mock crime samples, and degraded DNA in comparison with the slot blot technique. The QSY Alu assay has a dynamic range of 10 ng to 10 pg, and is sensitive, specific, fast, quantitative, and comparable in cost to the slot blot assay.     

An Alu-based, MGB Eclipse real-time PCR method for quantitation of human DNA in forensic samples

The forensic community needs quick, reliable methods to quantitate human DNA in crime scene samples to replace the laborious and imprecise slot blot method. A real-time PCR based method has the possibility of allowing development of a faster and more quantitative assay. Alu sequences are primate-specific and are found in many copies in the human genome, making these sequences an excellent target or marker for human DNA. This paper describes the development of a real-time Alu sequence-based assay using MGB Eclipse primers and probes. The advantages of this assay are simplicity, speed, less hands-on-time and automated quantitation, as well as a large dynamic range (128 ng/microL to 0.5 pg/microL).     

Human blood stain identification and sex determination in dried blood stains using recombinant DNA techniques

DNA was extracted from human and non-primate dried blood stains. Human male and female specimens were readily distinguished by analysis with a Y-chromosome specific DNA probe. Human and non-primate blood stains were also readily differentiated using a repeat sequence (Alu) DNA probe. The potential power of recombinant DNA analysis in forensic science is discussed.     

Simultaneous determination of total human and male DNA using a duplex real-time PCR assay

A single duplex assay to determine both the amount of total human DNA and the amount of male DNA in a forensic sample has been developed. This assay is based on TaqMan technology and uses the multicopy Alu sequence to quantitate total human DNA and the multicopy DYZ5 sequence to quantitate Y chromosomal (male) DNA. The assay accepts a wide concentration range of input DNA (2 muL of 64 ng/microL to 0.5 pg/microL), and also allows detection of PCR failure. The PCR product sizes Alu (127 bp) and DYZ5 (137bp) approximate that of the smaller short tandem repeats (STRs) which should make the assay predictive of STR success with degraded DNA. The assay was optimized for probe/primer concentrations and BSA addition and validated on its reproducibility, on its human specificity, on its nonethnic variability, for artificial mixtures and adjudicated casework, for the effect of inhibitors and for state of DNA degradation. This assay should prove very usual in forensic analyses because knowing the relative amounts of male versus female DNA can allow the examiner to decide which samples may yield the most probative value in a case or direct the samples to methods that would yield the greatest information.     

ABO基因型检验及其法医学应用研究

目的采用ＰＣＲ技术对ＡＢＯ血型系统进行基因型检验。方法选择最佳扩增条件进行四引物复合扩增,用限制性内切酶ＫｐｎＩ和ＡｌｕＩ分别酶解扩增产物,电泳分离、银染显色法检验ＡＢＯ基因型。结果对２７０例血斑、２０例混合斑、２０根毛发（有毛囊）、１２份唾液斑等不同的生物检材进行了分型,与血清学方法检验结果相符。结论该方法能够应用于法医学的检验