LC-MS/MS-MRM筛选血液中22种有毒生物碱成分

目的建立液相色谱-串联质谱法对血液中的22种常见有毒生物碱成分进行筛选分析。方法血液以丁丙诺菲为内标经液液提取后,用液相色谱-串联质谱仪以电喷雾电离(ESI )、多反应监测(MRM)方式进行分析。结果以化合物的保留时间、两对母离子/子离子对定性,最低检出限为0.1～20ng/mL。结论该方法选择性佳、灵敏度高,适用于法医毒物分析和临床毒物分析中有毒生物碱的分析。     

Indoor Wet Screening of Exhumed Skeletal Remains: A Suggested Procedure for the Preparation of Fragile Evidence for Anthropological Analysis

Abstract: The 2007 exhumation of three children’s graves, located in rural upstate New York and dating to 1979 and 1980, was warranted as their mother had come under suspicion for the death of a child she had been babysitting in late 2006. The local March weather conditions had been wet, and heavy rains fell during the 2‐day process of casket removal. The extremely wet soil and the poor preservation of two wooden caskets increased the likelihood of damage to evidence. After remains’ transport to the forensic center, an indoor wet‐screening station was established so that skeletal elements could be (i) separated from soil matrix and (ii) preserved carefully for analysis. Not only were the remains relatively small and fragile in comparison with those of an adult, but two of the three remains were known to be fire damaged, thus the use of special laboratory preparation techniques was crucial.     

48个X-SNP位点的筛选及法医学应用价值分析

目的对筛选出的48个X-SNP位点进行遗传学分析,评价其法医学应用价值。方法根据NCBI和Hap-Map网站提供的位点信息筛选出48个高信息量X-SNP位点,利用SNPlexTMSystem技术平台进行分型检测,通过中国华东地区汉族人群200个无关个体的调查建立遗传学资料,对48个X-SNP位点的遗传多态性进行研究分析,并进行连锁不平衡检验。结果除rs6527549外,筛选出的48个X-SNP位点在中国华东汉族人群中具有高信息量,多态信息含量均在0.32以上,个体识别率在女性群体和男性群体分别为0.56和0.40以上,非父排除率在二联体和三联体中分别为0.20和0.32以上。检验发现,部分位点存在连锁不平衡现象。结论本实验选取的48个X-SNP位点分型结果稳定,重复性好,在法医生物学研究中具有较高的应用价值,适于开展大规模的高通量检测。     

浙江汉族人群21个非CODIS系统STR基因座的遗传多态性调查

目的调查21个非CODIS系统STR在浙江汉族人群的遗传多态性,为其法医学应用提供基础数据。方法应用AGCU21＋1荧光标记复合扩增系统,对浙江汉族481名无关个体进行21个STR基因座的复合扩增,用ABl3130XL型基因分析仪对扩增产物进行检测,并统计其STR基因座的群体遗传学参数。结果获得21个STR基因座的等位基因频率分布,分别检出8、11、9、10、8、9、6、5、13、9、6、15、8、7、8、9、8、9、9、16、7个等位基因,并分别获得21个STR基因座的H、He、DP、PM及EP等法医遗传学参数。结论21个STR基因座具有较强个体识别能力,可应用于法庭科学中的个体识别与亲权鉴定。     

血小板同种抗原基因中9个单核苷酸多态性在广西地区壮族和汉族人群中的差异分析

目的检测血小板同种抗原基因中9个单核苷酸多态性在广西地区壮族和汉族人群中的差异。方法利用基于单碱基延伸的单核苷酸多态性（SNP）分型芯片,对广西壮族地区99例壮族个体和107例汉族个体的染色体基因组上10个SNP位点进行了分型,其中9个位于6个血小板同种抗原基因中,1个位于基因间区。此外,结合Hapmap计划第二期公布的四个人群的SNP分型数据,分析这六个人群的遗传结构。结果广西原住汉族人在等位基因频率上未检测到与当地壮族有显著性的差异位点,但在基因型频率上,rs630014和rs9441951两位点是显著差异的。广西壮族人与广西汉族、北京汉族人及日本东京人的遗传结构相近,但与祖先来自欧洲西部和北部的犹他州居民以及尼日利亚伊巴丹的约鲁巴人有显著差异的遗传成分存在。结论壮汉两族由于历史上的多次基因交流可能导致其遗传信息在很大程度上是相近的。     

Detection of Brodifacoum and other Rodenticides in Drug Mixtures using Thermal Desorption Direct Analysis in Real Time Mass Spectrometry (TD‐DART‐MS)

In recent months, there has been increased reporting of seized drug and toxicology cases containing rodenticides, the active ingredient in rat poisons. Seeing as rodenticides are not scheduled substances, they are not commonly screened for in seized drug analysis. This work investigates the use of TD‐DART‐MS for the simultaneous detection of rodenticides and drugs. Six rodenticides were evaluated, an optimal method was established, and limits of detection in the tens of nanograms were calculated. Additional studies highlight that detection at less than 1% by weight in mixtures with AB‐FUBINACA, cocaine, heroin, or methamphetamine was possible. This work presents an optimized method for detection of these compounds, allowing for the simultaneous detection of drugs and rodenticides, providing drug chemists with a tool for rapid identification of these compounds for forensic or public health purposes.     

非高血压主动脉夹层破裂猝死8例法医病理学分析

目的探讨非高血压主动脉夹层猝死的死因、临床症状及法医病理形态学特点,以期为非高血压主动脉夹层猝死的法医病理学诊断及规范尸体检验提供参考。方法对2007-2015年本司法鉴定中心受理鉴定的8例非高血压主动脉夹层猝死的案例进行统计、归纳和分析。结果非高血压主动脉夹层破裂多见于40岁以下男性,病理分型主要为De Bakey I型,临床表现多不典型,无1例临床确诊。经基因检测1例确诊为Marfan综合征,1例存在Smad3基因变异。非高血压主动脉夹层均无高血压病史,排除外伤,均未见高血压病相关病理学改变,镜下大动脉检见弹力纤维减少、平滑肌减少、囊性中膜变性、炎细胞浸润等改变,某些案例还见于中动脉。结论非高血压主动脉夹层发病机制复杂,与遗传学和炎症等多因素密切相关,常常波及全身多血管病变的特点。尸检时除了系统检验大血管的同时,还有必要对全身的中动脉进行检验,建议积极进行基因检测,探究发病机制。     

Establishment of 43-plex SNP Typing System and Its Forensic ApplicationCSCD

Objective: To evaluate the application of 43 -plex SNP typing system in forensic science. Methods: The typing of 43 SNP loci in 123 unrelated Han individuals from East China was detected by MALDI-TOF-MS. The application value of 43-plex SNP typing system was assessed according to the forensic parameters of population genetics. Results: All the 43 SNP loci of 123 individuals showed no significant departure from Hardy-Weinberg equilibrium (P>0.05). Excepted rs1355366, rs2270529, rs10776839 and rs938283, there were 39 SNP loci had minor allele frequencies (MAF), which were greater than 0.25. Among the 25 loci MAFs, 24 ranged from 0.4 to 0.5, while 3 were close to 0.4. The DP, CDP, PIC, Ho, PEtrio and PEduo of the 43 SNP loci were 0.290 1-0.654 4, 1-9.8×10-11, 0.170 8-0.500 0, 0.155 7-0.593 5, 0.085 4-0.250 0 and 0.014 6-0.125 0, respectively. The CPEtrio and CPEduo were 0.999 986 and 0.992 436 1, respectively. Conclusion: The 43-plex SNP typing system in present study shows a high polymorphism, which can be an effective supplement and verification for traditional STR genetic markers. It also can be used with other commercial kits for the forensic paternity testing and individual identification. © 2018 by the Editorial Department of Journal of Forensic Medicine.     

Forensic Application of SiFaSTRTM 23plex DNA ID System in Han Population of Eastern ChinaCSCD

Objective: To investigate the genetic polymorphism of 21 autosomal STR loci and DYS391 locus of SiFaSTRTM 23plex DNA ID system in Han population of eastern China and to evaluate its application value in forensic science. Methods: Typing test of 2 000 unrelated individuals was performed using SiFaSTRTM 23plex DNA ID system. The population genetic parameters of STR loci were statistically analysed. A total of 3 198 parentage confirmed cases were detected with that system and the mutation conditions were observed in 21 autosomal STR loci. Results: All the 21 autosomal STR loci showed no significant departure from Hardy-Weinberg equilibrium (P>0.05). The Ho ranged from 0.617 5 to 0.927 0. The DP ranged from 0.796 4 to 0.986 9, as well as the PIC distributed from 0.561 1 to 0.912 3. The CDP was 0.999 999 999 999 999. The CPEduo was 0.999 997 431 701 961, while CPEtrio was 0.999 999 999 654 865. Five alleles were detected in DYS391 locus, with the allele frequency from 0.004 0 to 0.729 0, and GD was 0.418 9. Except D13S317 and D10S1248, seventy-six mutation events were observed at the rest nineteen autosomal STR loci. Among them, seventy-five (98.68%) were one step mutation, and only one (1.32%) was three steps mutation. The mutation rate ranged from 0.246 5×10-3 to 2.711 4×10-3, and the averaged mutation rate was 0.892 1×10-3 (95% CI: 0.70×10-3-1.10×10-3). In 33 trio mutation cases, the proportion of the paternal mutation and the maternal mutation was 2.09 :1. Conclusion: The involved STRs are highly polymorphic in Eastern Han population with acceptable mutation rates by the SiFaSTRTM 23plex DNA ID system, which is suitable for paternity testing and individual identification. © 2018 by the Editorial Department of Journal of Forensic Medicine.     

广州地区汉族人群Y染色体多个STR位点的研究

为建立一套高度多态且实用性强的Ｙ－ＳＴＲｓ标记系统,本文用ＰＣＲ结合银染显色技术研究了１１１例广州汉族男性ＤＹＳ１９、ＤＹＳ３８９Ⅰ／Ⅱ、ＤＹＳ３９０等位基因及单倍型分布状况。结果显示：广州地区汉族男性ＤＹＳ１９位点有Ａ１、Ａ２、Ａ３、Ａ４、Ａ５五种等位基因,出现频率分别为１８．９％、３６．０％、３６．０％、７．２％、１．８％;ＤＹＳ３８９Ⅰ位点有Ｂ１、Ｂ２、Ｂ３、Ｂ４四种等位基因,出现频率分别为６．３％、５２．２％、１７．１％、２４．３％;ＤＹＳ３８９Ⅱ位点有Ｃ１、Ｃ２、Ｃ３、Ｃ４、Ｃ５五种等位基因,出现频率分别为１１．７％、３８．７％、２２．５％、１７．１％、９．９％,ＤＹＳ３９０位点有Ｄ１、Ｄ２、Ｄ３、Ｄ４、Ｄ５五种等位基因,出现频率分别为２．７％、９．９％、４６．８％、２７．９％、１２．６％;χ２检验表明上述各等位基因分布存在明显的地域差异。此外,还观察到７２种由上述座位共同构成的单倍型,单倍型多样性达０．９８０,表明该系统具有较强的个体识别能力