广西壮、汉人群3个基因座的遗传多态性

本研究在同一反应体系,对CSFIPO、TPOX和TH013个STR基因应复合扩增,采用高分辨率的聚丙烯酰胺变性胶电泳分离、银染技术,对广西壮、汉人群进行遗传多态性研究.结果表明3个基因应在2个群体均具有较高的Dp值,在法医学个体识别及亲权鉴定方面有重要价值.     

红细胞EsD和PGM_1的同步电泳分型及其在上海地区的分布与频率

用 pH7.4的 Tris-马来酸缓冲系统和混合淀粉凝胶同步检测血液及血癌中 EsD 和 PGM_1的表型,获得良好的分型效果。EsD 和 PGM_1的图谱区带平直、狭窄、清晰。各种表型之间差异著,极易区分容易发现稀有表型。我们在上海地区居民中检查了390人的 EsD 表型和724人的 PGM_1表型,其分布与其基因频率详见附表。在检测尸体血及尸体血痕时,发现一例尸体血和一例尸体血痕的 PGM 1活性明显增强,前者尚显现了一条额外的同工酶区带。     

精斑中磷酸葡萄糖变位酶(PGM_1)及其亚型的电泳分型

本文用淀粉凝胶电泳法和 PAGIEF 对精斑 PGM_1普通型及亚型进行了检测。169份精液斑的 PGM_1分型结果是:PGM_1 1—1 87例;PGM_1 2—1 66例;PGM_1 2—2 16例,其中31例同一个体红细胞及精液 PGM_1分型的结果完全一致。研究了138例不同精子数精斑的 PGM_1型,发现精子数的多少对分型无影响。亚型检测结果与红细胞一样可分10型。     

α_2HS-糖蛋白、α_1-抗胰蛋白酶和GC的同步分型与应用

作者应用等电聚焦技术,建立了同步检测α_2HS-糖蛋白表型,α_1-抗胰蛋白酶亚型和GC亚型的方法。本法累计个人识别机率为0.9701,累计非父排除率为0.5811、是国内外同步电泳分型史鉴别效率最高的方法。在11例亲子鉴定中应用本法取得了满意结果。     

上海地区D1S80位点基因频率分布及其在亲子鉴定中的应用

目的：将D1S80位点的DNA多态性分析应用于亲子鉴定。方法;PCR、聚丙烯酰胺凝胶电泳及溴已锭染色。结果：获得D1S80位点的DNA多态性分布数据。结论：D1S80位点的PCR检测方法可成功地用于亲权纠纷案的鉴定。     

D3S1358等7个DNA位点的荧光法在法医学中的应用

报道了D3S1358、D16S539等7个DNA位点的复合扩增和四色荧光分析技术。经310自动测序仪检测7个位点 ,实现了STR位点同步扩增和自动检测目的。同一性实验表明 ,同一个体肌肉、血液、唾液和头发等组织STR位点基因型完全一致。对2个四代家系、3个三代家系的调查结果表明 ,这些位点符合孟德尔遗传定律。D3S1358、D16S539等7个位点对陈旧、微量的检材适用性很强,灵敏度达75pg ,在法医个人识别和亲子鉴定中有着重要意义     

液相色谱-三重四级杆/线性离子阱串联质谱法测定血液中1-(4-甲氧基苯基)哌嗪

目的建立血液中1-(4-甲氧基苯基)哌嗪的液相色谱-三重四级杆/线性离子阱串联质谱(LC-QTrap-MS/MS)的快速检测方法。方法血液经乙腈沉淀蛋白后,振荡、离心、经微孔滤膜过滤后供仪器分析;选用Phenomenex Kinetx®5.0μm Biphenyl 100Å(100mm×2.1mm)分离,柱温40℃;以0.1%甲酸水溶液-乙腈为流动相,流速0.5mL/min,梯度洗脱5.5min;以多反应监测(MRM)-信息依赖性采集(IDA)-增强子离子扫描(EPI)-谱库检索的模式进行分析,外标-标准曲线法进行定量分析。结果血液中1-(4-甲氧基苯基)哌嗪的浓度在2~200ng/mL范围内呈现良好的线性关系,相关系数达到0.9984,回收率在87%以上,日内精密度在5%以下,日间精密度在10%以下,方法的检出限是0.8ng/mL,定量限是2ng/mL。结论该方法采用LC-QTrap-MS/MS和MRM-IDA-EPI模式,既保持与MRM相同的定量灵敏度,也能提供更为丰富的二级质谱碎片,使定性结果更加准确。方法简单快捷,专属性好,回收率高,重现性好,能够用于血液中1-(4-甲氧基苯基)哌嗪同时定性和定量分析。     

新型毒品5-甲氧基-α-甲基色胺油状物的GC-MS定性检验

目的通过分析未知检材样本提取后的质谱碎裂峰,建立了5-甲氧基-α-甲基色胺(5-MeO-AMT)的气相色谱-质谱(GC-MS)定性分析方法,并阐述其在EI离子源轰击下的分子裂解机制。方法未知样品油状物用氢氧化钠溶液溶解后加入适量乙酸乙酯,充分振荡后吸取上清液采用气相色谱-质谱(GC-MS)检测。结果测得未知组分(RT=12.754min)的质谱特征碎片峰(m/z)信息为161.1(基峰)、204.2、146.1、130.1、117.1和89.0。经与NIST谱库和DEA报告质谱图比对,确定为5-MeO-AMT;通过查阅文献资料,对上述质谱特征碎片峰的产生机制进行了推断。结论该方法操作简单、结论可靠,可用于5-MeO-AMT的检验。     

Blunt Craniofacial Trauma as a Manifestation of Excited Delirium Caused by New Psychoactive Substances

The body of a 19‐year‐old male was found apparently concealed underneath bushes with recent head and facial trauma, and multiple superficial abrasions. Subsequently, it was discovered that the decedent had been running into objects and buildings following the ingestion the evening before of what was thought to be lysergic acid diethylamide (LSD). Blood staining of a nearby wall close to where the body was lying was in keeping with the described behavior. Toxicology revealed 3,4‐methylenedioxymethamphetamine (Ecstasy), in addition to two only recently available drugs 2‐(4‐bromo‐2,5‐dimethoxyphenyl)‐N‐[(2‐methoxyphenyl)methyl]ethanamine, (25B‐NBOMe), and 1‐(3,4‐methylenedioxyphenyl)‐2‐(1‐pyrrolidinyl)‐1‐butanone, (MDPBP). At autopsy, the skull was fractured with cerebral swelling, contusions, and subarachnoid hemorrhage. Death was due to blunt cranial trauma against a background of mixed drug toxicity. The case demonstrates a rare cause of death in a drug‐induced acute delirium, as well as highlighting two new designer street drugs that may result in significant aberrant behavior.     

D5S818 Typing Discrepancy Between PowerPlex® Fusion and Other STR Kits Including GlobalFiler® Caused by a One‐base Deletion in 31 Nucleotides Upstream of the Repeat Region

Short tandem repeat (STR) typing is widely used in forensic investigation. When the same DNA sample is analyzed with different STR typing kits, a typing discrepancy is occasionally observed. In this study, we examined the cause of a typing discrepancy in a sample at D5S818 locus. This sample was designated as 10, 12 using Identifiler^®, Identifiler^® Plus, GlobalFiler^®, PowerPlex^® 16HS, and PowerPlex^® 18D, but as 9.3, 12 using PowerPlex^® Fusion. Sequencing results indicated that the shorter allele in the sample had a deletion (U31Tdel) at 31 nucleotides upstream of the repeat region (AGAT)₁₀. This deletion was located in the binding site of the published D5S818 forward primer in PowerPlex^® 16 and was only 9 and 11 nucleotides downstream of our estimated 5′ end position of D5S818 forward primer in GlobalFiler^® and PowerPlex^® 18D, respectively. We also examined the effect of primer length on the heterozygous peak balance in this sample.