Postmortem genetic testing in sudden unexplained death: A public health laboratory experience

Sudden unexplained death in the young poses a diagnostically challenging situation for practicing autopsy pathologists, especially in the absence of anatomic and toxicological findings. Postmortem genetic testing may identify pathogenic variants in the deceased of such cases, including those associated with arrhythmogenic channelopathies and cardiomyopathies. The Wisconsin State Laboratory of Hygiene (WSLH) is a state-run public health laboratory which performs postmortem genetic testing at no cost to Wisconsin medical examiners and coroners. The current study examines sequencing data from 18 deceased patients (ages 2 months to 49 years, 5 females) submitted to WSLH, from 2016 to 2021. Panel-based analysis was performed on 10 cases, and whole exome sequencing was performed on the most recent 8 cases. Genetic variants were identified in 14 of 18 decedents (77.8%), including 7 with pathogenic or likely pathogenic variants (38.9%). Whole exome sequencing was more likely to yield a positive result, more variants per decedent, and a larger number of variants of uncertain significance. While panel-based testing may offer definitive pathogenic variants in some cases, less frequent variants may be excluded. Whole exome testing may identify rare variants missed by panels, but increased yield of variants of uncertain significance may be difficult to interpret. Postmortem genetic testing in young decedents of sudden unexplained death can provide invaluable information to autopsy pathologists to establish accurate cause and manner of death and to decedent's relatives to allow appropriate management. A public health laboratory model may be a financially advisable alternative to commercial laboratories for medical examiner's/coroner's offices.     

The family law detection of overall risk screen (FL-DOORS): Utility as a repeated measure for assessing change in family violence risk over time

Conflicted parental separation is associated with risks to safety and wellbeing for all family members. The Family Law DOORS (FL-DOORS; Detection of Overall Risk Screen) is a standardized screening framework to assist identification, evaluation, and response to family safety risks. The FL-DOORS has previously been validated in two large Australian samples (N = 6089) and found fit-for-purpose as an indicator of family violence and wellbeing risks in separated families. Now, using pilot data from a community mediation context, we examine its utility as a repeated measure for detecting change in safety and wellbeing over time. A pilot cohort of 67 parents engaged in a mediation service for parenting and/or property disputes completed the FL-DOORS at intake (T1) and approximately 8 weeks later (T2). We assessed T1-T2 change scores and correlations in change between variables and used MANOVA to determine if clusters of related scales discriminated change across time. Findings support the psychometric capacity of the FL-DOORS for use as a repeated measure in risk monitoring. We also note possible effects of this early screening process for reducing risk prior to engagement in mediation input. We discuss implementation utility for family law services to monitor change in risk type and magnitude over time.     

Parentage of Hydatidiform Moles

We were presented with the STR (short tandem repeat) profiles from two separate paternity trios. Each trio consisted of a mother, an alleged father, and products of conception (POC) that contained a hydatidiform mole but no visible fetus. In both cases , antecedent pregnancies had followed alleged sexual assaults. Mole classification and pathogenesis are described in order to explain the analyses and statistical reasoning used in each case. One mole exhibited several loci with two different paternal alleles, indicating it was a dispermic (heterozygous) mole. Maternal decidua contaminated the POC, preventing the identification of paternal obligate alleles (POAs) at some loci. The other mole exhibited only one paternal allele/locus at all loci and no maternal alleles, indicating it was a diandric and diploid (homozygous) mole. In each case, traditional calculations were used to determine paternity indices (PIs) at loci that exhibited one paternal allele/locus. PIs at mole loci with two different paternal alleles/locus were calculated from formulas first used for child chimeras that are always dispermic. Combined paternity indices in both mole cases strongly supported the paternity of each suspect.     

Whole-genome sequencing of degraded DNA for investigative genetic genealogy

Whole genome sequencing has opened the doors to Investigative genetic genealogy (IGG) analysis of challenging forensic samples that are not suitable for microarray genotyping. These samples still do not typically achieve high enough coverage for direct genotype calling, therefore a pipeline for imputation from low coverage sequencing data was evaluated using data from the 1000 Genomes Project. This pipeline generated results suitable for IGG down to 0.25X coverage. Additionally, forensic samples from a variety of tissue types and input amounts were sequenced and successfully uploaded to genetic genealogy databases after imputation.     

集中式警用移动数据中心的实现

利用基于AT指令的DTU，通过GPRS无线通信网络开发了集中式警用移动数据通信系统。在VB6．0下利用Mscomm控件设计了智能通信中心管理软件，可实现智能拨号、对来电号码的追踪、对来电历史记录的查询、对备案数据库以外的来电屏蔽、智能联网、对特密专线拨号以及对特密专线的限权修改等功能。     

中国青海藏族、汉族mtDNA控制区遗传多态性

目的研究中国青海藏族、汉族mtDNA控制区遗传多态性。方法收集69份青海藏族和青海汉族无关人群外周血样本，对其mtDNA控制区进行序列分析，计算多个多态性指标。结合其他民族mtDNA遗传资料，根据Nei法计算包括青海藏族和汉族群体在内的11个群体之间的Fst和Rst遗传距离．进行聚类分析，绘制系统发生树。结果在青海藏族和汉族群体mtDNA控制区中分别发现56和59个多态性位点。Rst遗传距离显示青海藏族人群与各人群之间遗传距离均较远（P〈0．05）；青海汉族人群与西安汉族、蒙古族、长沙汉族等人群之间距离较近（P〉0．05）。结论我国青海藏族和汉族人群mtDNA具有相对独特的遗传特征，其遗传多态性和个体识别力较高，可用于民族起源、迁徙、法医学个体识别等领域研究。     

Genetic Polymorphisms of four X-STR Loci: DXS6797, DXS6800, HPRTB and GATA172D05 in a Peruvian population sample

The X linked short tandem repeats (STR) markers have proven to be very useful tools for paternity testing when the disputed child is female. The purpose of this study was to describe the genetic polymorphism of four X-chromosomal STR loci (DXS6797, DXS6800, HPRTB and GATA172D05) in a Peruvian population sample and evaluate their efficiency in forensic practice and paternity testing.     

简论基因与犯罪

2 0世纪 90年代关于基因决定犯罪的新说法 ,在基因时代更具有迷惑性。人的犯罪心理和犯罪行为要受到基因的影响 ,但更重要的还要受到主体内外的其他各种因素的影响。因此 ,不能把犯罪心理和犯罪行为的决定因素简单地归结为基因的作用。基因是不能直接影响犯罪心理和犯罪行为产生的 ,基因决定论本质上是一种生物学决定论和遗传决定论     

天津地区朝鲜族9个STR基因座遗传多态性

目的　调查天津地区朝鲜族人群无关个体 9个STR基因座 (D3S135 8、vWA、FGA、D8S1179、D2 1S11、D18S5 1、D5S818、D13S17、D7S82 0 )多态性分布 ,研究其在法医学检验中的应用。方法　应用AmpFLSTR○R　ProfilerPlusTM荧光标记复合扩增系统对 184例天津地区朝鲜族无关个体血样DNA进行 9个STR基因座的复合扩增 ,用ABI310遗传分析仪对扩增产物进行检测 ,用GeneScan、GenoTyper软件进行基因分型 ,统计计算 9个STR基因座的群体遗传学参数。结果　该群体上述 9个STR基因座检出的等位基因及其基因型多态性分布良好 ,经校验 ,符合Hardy Weinberg平衡定律 ,累计个体识别力 (TDP)为 0 99999999996 ,偶合率为 4 .0 6×10 - 11,累积非父排除能力 (PE)为 0 9899。结论　上述 9个STR基因座适用于本地区该群体各类案件的法医学个体识别和亲权鉴定。