The BodeChecks solution: A high throughput analysis software combining GeneMapper ID, FSS-i, LIMS, and artificial intelligence

Combining key attributes of GeneMapper^® ID and FSS-i³ software packages with our internally created LIMS and some additional analytical programming has permitted us to increase quality checks on DNA profile data review while eliminating analysis time.     

MiniFiler~(TM)试剂盒在LCN-STR分型中的应用

目的评估MiniFilerTM试剂盒在LCN-STR分型中的法医学应用价值。方法采用MiniFilerTM与IdentifilerTM试剂盒,对49份常量与39份LCN检材,包括血迹、精斑、骨骼等7类常见检材的检验结果进行比较,并对两种试剂盒的检测灵敏度进行比较。结果在49份常量检材的检验结果中,两种试剂盒的STR分型结果全部一致;在39份LCN生物检材的检验结果中,MiniFilerTM试剂盒获得全部STR分型的有30份,部分分型的5份,阴性的4份;IdentifilerTM试剂盒获得部分STR分型的22份,阴性的17份。MiniFilerTM试剂盒检验成功率明显高于IdentifilerTM试剂盒;MiniFilerTM试剂盒的检测灵敏略高于IdentifilerTM。结论MiniFilerTM试剂盒可显著提高LCN生物检材的检验成功率,适合应用于法庭科学实际检案中LCN生物检材的检验鉴定。     

冠心病猝死心肌纤维连接蛋白免疫组化染色观察

目的研究纤维连接蛋白（FN）免疫组化染色对冠心病猝死（SCD）的病理学诊断价值。方法用兔抗人FN多克隆抗体对人SCD心肌、颅脑损伤和病毒性心肌炎致死者心肌进行FN-SP免疫组化染色观察，用图像分析处理系统对FN免疫组织化学染色阳性反应产物面积定量，所得数据进行统计分析。结果SCD组16例心肌组织内FN大量沉积；颅脑损伤致死组心肌细胞内FN染色阴性，病毒性心肌炎致死组部分心肌细胞内FN阳性；3组心肌细胞内的阳性反应面积存在显著性差异（P〈0．05）。冠心病猝死组阳性反应面积（μm^2）为54143．28±8474．92；颅脑损伤致组阳性反应面积（μm^2）为527．99±105．04；病毒性心肌炎组阳性反应面积（μm^2）为5483．53±1219．91。结论冠心病猝死者心肌FN免疫组化检测可为死因诊断提供可靠依据。     

家兔死后不同时间角膜基质胶原纤维的超微结构观察

目的探讨角膜基质胶原纤维直径变化与死亡时间的关系。方法28只家兔空气栓塞致死后,按死后不同时间取角膜,常规方法制作超薄切片,应用透射电镜观察角膜基质0.5μm×0.5μm区域内的胶原纤维,并用图像分析系统测量反映胶原纤维直径变化的横切面面积(Y1)、周长(Y2)、平均直径(Y3)、等效直径(Y4)4个参数,所得数据用EXCEL2000和SPSS10.0软件进行统计分析。结果在死后0～72h内,角膜胶原纤维横断面的面积从1131±53nm增加到1628±26nm,周长从132.8±23nm增加到167.5nm,等效直径从38nm增加到45nm,平均直径从37.71±6nm增加到44.89±5nm。结论死后72h内,角膜基质胶原纤维直径随死后时间的延长逐渐增大,4个参数有望作为判断死后时间的新指标。     

Chelex-100提取生物检材DNA实时PCR定量研究

目的研究Chelex-100法提取的生物检材DNA用量与复合STR分型成功率的关系。方法113份各种生物检材采用Chelex-100法提取DNA，应用Quantifiler人类DNA定量试剂盒在ABI 7500荧光定量PCR仪上进行实时PCR定量，同时用Identifiler复合扩增系统在ABI 3100遗传分析仪上对这些DNA样品进行STR分型。结果各种生物检材提取的DNA浓度分别为：37份滤纸、纱布血痕0．042～5．28ng／μl，16份口腔拭子1．15—4．21ng／μl，18份烟头0．016～1．46ng／μl，10份肋软骨0．531—14．40ng／μl，8份肌肉5．75—24．80ng／μl，7份指甲0．788—11．50ng／μl，17份精斑0．79～99．50ng／μl。在建立的8μl扩增体系中，根据上述结果，调整用于复合STR扩增的DNA模板量在0．5—3ng之间，大部分样品可获得完全的STR分型。结论Chelex-100法提取的检材DNA模板用量在0．5—3ng之间可得到有效STR扩增，浓度为0．5ng／μl以上的DNA样品，用小体积模板（1μl）比大体积（3μl）模板扩增效果好。     

Development of STR profiles from firearms and fired cartridge cases

Fired cartridge cases are a common type of evidence found at crime scenes. However, due to the high chamber temperatures and touch nature of this evidence, DNA testing is not commonly sought because it is believed DNA is only present in low levels, whether it is due to initial low levels of DNA and/or DNA degradation from the heat or inhibition of the PCR reaction. Moreover, very few laboratories report STR typing success with fired cases. This study focused on obtaining STR profiles from fired cartridge cases using the AmpFℓSTR^® MiniFiler™ kit, which is designed to amplify DNA from low level, inhibited, and degraded samples. Comparisons to other STR amplification kits were also conducted. In attempt to simulate casework, random individuals loaded cartridges into a firearm. DNA was recovered from the fired cartridge cases using the double swab technique and extracted using an automated large volume DNA IQ™ method. Initially, testing focused on known shedders handling cartridges for 30 s prior to firing. A significantly greater number of alleles was obtained following amplification with the MiniFiler™ kit versus the PowerPlex^® 16 BIO kit. No alleles were observed using the Identifiler^® kit. In an attempt to better simulate casework, a random selection of laboratory personnel handled shotshells for as long as needed to load and fire the weapon. In this mock sample study, the MiniFiler™ kit successfully amplified an average of 22% of expected alleles from DNA recovered from shotshell cases versus the PowerPlex^® 16 BIO kit where an average of 7% of alleles were observed. However, the total number of alleles obtained from the two kits was not significantly different. The quality of the DNA obtained from fired cases was studied with evidence of inhibition in at least 11% of shotshell case samples. After swabbing the head and the hull of three shotshell cases separately, a significantly greater number of alleles was obtained from the hull as opposed to the head of the fired shotshell case. In addition, after firing, various internal firearm surfaces were swabbed, including the chamber of barrel, ejection port, and breechface, in an attempt to obtain amplifiable DNA. DNA was obtained from the chamber of the barrel and was amplifiable using the MiniFiler™ kit, although mixtures were obtained with extensive drop-in and drop-out making this analysis unlikely to aid an investigation.     

印记基因KCNQ1的遗传多态性及在亲权鉴定中的应用

目的为了调查印记基因KCNQ1的STR位点在中国汉族人群中的遗传多态性，利用亲源印记等位基因（parentally imprinting allele，PIA）分型法确定孩子的等位基因亲代来源，为亲权鉴定提供新的侯选STR位点。方法应用Chelex法提取153例佳木斯地区汉族健康无血缘关系个体DNA，用QIAamp Blood Kit（Qiagen）法提取3个家庭10个个体DNA，PCR扩增，凝胶电泳分型，ABIPRISM^TM 3730XL DNA测序仪测序；甲基化敏感性限制性内切酶消化孩子基因组DNA，PCR扩增，确定孩子等位基因的亲代来源。结果发现在中国佳木斯地区汉族人群中KCNQ1基因的STR有7个等位基因，多态信息含量为0．662，且KCNQ1基因的STR位点呈父源印记。结论印记基因KCNQ1的STR位点有很好的多态性，可为亲权鉴定提供新的侯选遗传标记，其亲源特异性甲基化标记有望应用于单亲鉴定中。     

应用Goggle-VEP客观评定视野缺损的法医学价值分析

目的以视神经损伤为研究对象,分析视野与Goggle-VEP相关性,探讨法医临床学视野的客观评定问题。方法以被检查者健眼作对照,行双眼电视野检查及Goggle-VEP检查;应用SPSS软件分析两者数据的相关性。结果80例视神经损伤眼均表现为不同程度的视野改变,其中41例为视神经完全损伤,Goggle-VEP均无波型诱出;39例为不完全视神经损伤,Goggle-VEP表现为仅诱出切迹波或者潜伏期延长、波幅降低;80例健眼,视野正常,Goggle-VEP均正常。分析视野与Goggle-VEP结果两者的相关性,R=0.911(P<0.01,n=80)。结论视神经损伤时,视野缺损程度与Goggle-VEP异常程度有较为良好的相关性,Goggle-VEP可作为视神经损伤后客观评定视野缺损的指标。     

Nature and place of crime scene management within forensic sciences

This short paper presents the preliminary results of a recent study aimed at appreciating the relevant parameters required to qualify forensic science as a science through an epistemological analysis. The reader is invited to reflect upon references within a historical and logical framework which assert that forensic science is based upon two fundamental principles (those of Locard and Kirk). The basis of the assertion that forensic science is indeed a science should be appreciated not only on one epistemological criteria (as Popper's falsification raised by the Daubert hearing was), but also on the logical frameworks used by the individuals involved (investigator, expert witness and trier of fact) from the crime scene examination to the final interpretation of the evidence. Hence, it can be argued that the management of the crime scene should be integrated into the scientific way of thinking rather than remain as a technical discipline as recently suggested by Harrison.     

珠蛋白研究进展及其在法医学中的应用

珠蛋白是一类能够通过铁卟啉环可逆性结合氧的呼吸性蛋白质,目前在脊椎动物体内已有4种类型的珠蛋白被鉴定和正式命名:血红蛋白(haemoglobin,Hb),肌红蛋白(myoglobin,Mb),脑红蛋白(neuroglobin,Ngb)和细胞珠蛋白(cytoglobin,Cygb),它们共同组成珠蛋白超家族(globin superfamily)。本文就珠蛋白的组织分布、结构特征、生物学功能及其在法医学中的应用等作一综述。