应用Ion Torrent PGM~(TM)平台检测中国汉族124个身份鉴定SNPs

目的应用Ion Torrent PGM~(TM)测序平台检测中国汉族群体124个身份鉴定SNPs(individual identification SNPs,IISNP)的多态性信息。方法采用Ion Ampliseq~(TM)Library试剂盒对中国汉族130个无关个体样本及2个家系共8个个体的124个SNPs(90个常染色体SNPs和34个Y染色体SNPs)进行复合扩增,在Ion Torrent PGM~(TM)测序平台上检测。结果中国汉族130个无关个体应得14 148个SNP分型,其中软件给出分型结果14 086个,正确14 085个(99.992 9%),分型偏倚1例(0.007 1%)。软件未报SNP分型62例,需人工校正分析。在90个常染色体SNPs中,MP值最高为0.817 3(rs740910),最低为0.348 0(rs2831700),CMP为6.8984×10~(-34);DP值最高为0.652 0(rs1355366),最低为0.182 7(rs727811),CDP为0.999 999 999 999 999 999 999999 999 999 999 310 2,高于22个STRs的CDP;PE值最高为0.278 1(rs1058083),最低为0.007 3(rs1024116),CPE为0.999 999 616 7,低于22个STRs的CPE。在34个Y-SNPs中,72个中国汉族男性无关个体共观察到8种单倍型。家系样本分型结果未发现突变,均符合遗传规律。结论 124个身份鉴定SNPs在中国汉族群体中具有良好的遗传多态性,是理想的个体识别遗传标记。Ion Torrent PGM~(TM)平台在法庭科学领域有较好的应用价值。     

16个X-STR基因座在河南汉族人群中的法医学应用评估

目的调查16个X-STR基因座在河南汉族人群中的遗传学数据,评估其法医学应用价值。方法应用Goldeneye~(TM)DNA身份鉴定系统17X试剂盒,对河南地区326名汉族无关个体DNA进行PCR扩增,3130xl型遗传分析仪电泳分析,Gene Mapper~ID-X软件分析等位基因片段大小。统计分析16个X-STR基因座的频率数据和群体遗传学参数,并与其他地区已有人群数据进行比较。结果在所检测的16个X-STR基因座中,DXS6800具有中度多态性,其余15个基因座均具有高度多态性。这16个X-STR基因座在女性群体的累积个人识别率为0.999 999 999 999 992,在男性群体的累积个人识别率为0.999 999 996 577 712,在三联体中的累积非父排除率为0.999 999 971,在二联体中的累积非父排除率为0.999 992 574。结论这16个X-STR基因座达到了法医物证学应用要求,尤其对特殊的亲权鉴定案件具有重要的应用价值。     

Determination of phenotype associated SNPs in the MC1R gene

Prediction of physical appearance based on genetic analysis is a very attractive prospect for forensic investigations. Recent studies have proved that there is a significant association between some genetic variants of the melanocortin 1 receptor (MC1R) gene and red hair color. The present study focuses on the potential forensic applicability of variation within this pigment-related gene. Sequencing of the complete MC1R gene was performed on a group of red-haired individuals and controls with different pigmentation. A major role in determination of red hair color is played by two MC1R variants--C451T and C478T. The optimized minisequencing assay for genotyping of the above positions and three other important red hair-related MC1R polymorphisms, C252A, G425A, and G880C was successfully applied to analyze typical forensic specimens. Determination of a homozygous or heterozygous combination can be a good predictor of both red hair color and fair skin of a subject.     

A potentially catastrophic outcome from a false-positive urinary drug screen immunoassay

Background: Urinary drug screens are routinely administered for patients returning from leave from forensic psychiatric wards, and are required to be negative for patients to continue to use their allocated leave. Case: A 35-year-old woman took leave from her low-secure psychiatric unit. On return, her urine screened positively for 3,4-Methylenedioxymethamphetamine (MDMA). She strongly denied she had taken it; however, all her leave was cancelled. Her clinical state greatly deteriorated, and she attempted to hang herself the following day. After stabilisation of the patient and continued denial of taking MDMA, the urine was sent for toxicology analysis. In the weeks that followed, she started self-harming and deteriorated to the point of needing electroconvulsive therapy. The toxicological report came back as a false-positive due to recently started Mebeverine. Conclusion: Clinicians must be mindful that urinary drug screens are not diagnostic, but also that not being believed can be devastating, especially for long-stay forensic inpatients.     

Inaccurate Conception: ACB v Thomson Medical

This note considers the decision of the Singapore Court of Appeal in ACB v Thomson Medical in which the plaintiff sought damages for the upkeep costs of a child conceived using sperm from someone other than her husband as a result of negligence by a fertility clinic. The Court held that upkeep costs could not be recovered as a matter of public policy, but recognised a new head of loss, namely damages for loss of genetic affinity. In a controversial ruling, the Court quantified these damages at thirty per cent of the upkeep costs of the child. While holding that punitive damages could be recovered outside the categories recognised in Rookes v Barnard, the Court rejected such an award on the facts of the case.     

混合斑的研究进展

混合斑组成复杂,长期以来是法医物证研究的难题之一。混合斑主要分为两类:一是性侵害案件中大量女性阴道上皮细胞混合少量精子;二是普通来源的生物检材之间的混合,如血-血、唾液-血液混合等。近些年来,对混合斑的研究日渐深入,技术层面或理论分析都更加客观和多元化。针对第一类混合斑,出现了荧光/磁性激活、显微操纵、声波差异分离法等分离精子的新技术;第二类混合斑是研究的难点,近年来大规模平行测序、液滴微流控技术、乳液PCR(e PCR)、全基因组扩增等技术的出现,提高了次要成分的检出机率。此外,遗传标记也有相应的发展,传统遗传标记常染色体STR、Y-STR、SNP等检测位点越来越丰富,新兴遗传标记DIP、DIP-STR、SNPSTR、mt DNA-SNP、微单倍型等在混合斑研究中发挥的作用初步显露出来。文章最后涉及混合斑分析理论和计算软件的最新发展。     

Improving the quality of drug court clinical screening: a call for performance measurement policy reform

Despite the widespread use of the drug court model, standardized performance measures for drug courts are not uniformly utilized, and rarely include process measures. To ensure that drug courts are being implemented in the most effective manner, the use of performance measurement tools should be considered for wide scale adoption. Drug court effectiveness is moderated by participant characteristics, and is most effective for individuals with the highest substance use needs. Therefore, having quality clinical screening processes is crucial to ensuring that drug courts are serving the population for which they are effective. This paper examines clinical screening in drug courts, to answer the following 1) what is the current state of screening, 2) what works, and 3) why measurement matters. It also proposes a clinical screening performance measure to improve fidelity and ensure appropriate participant enrollment. The creation of a performance measure would create opportunities to improve drug court outcomes, and leverage pay-for-performance models.     

Navigating adolescent depression and anxiety in the context of parenting plan evaluations

This article touches upon theories accounting for the rise in adolescent anxiety and depression and how the prevalence of adolescent anxiety and depression affects how we navigate parenting plan evaluations. This article also discusses the importance of screening youth for depressive and anxious symptoms and assessing family, parental, and youth risk and protective factors related to adolescent depression and anxiety. This article also highlights the importance of assessing for mediating factors that increase the risk of anxiety and depression in youth in the context of parental separation, such as interparental conflict, financial difficulties, and limited contact with one parent. This article also identifies various methods of assessing depression and anxiety, including the adolescent interview, observations during the interview, and self-report measures. Additionally, this article discusses potential interventions that address mediators of the impact of divorce, such as parenting problems, family conflict, or the parent–child relationship.     

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.