人类酪氨酸羟化酶基因SNP多态性与精神疾病的相关性

目的通过调查人类酪氨酸羟化酶（tyrosine hydroxylase,TH）基因的部分SNP在正常及疾病群体中的分布,探讨TH基因与精神疾病的相关性。方法采用DNA测序和实时荧光定量PCR技术,选择正常人、精神分裂症患者、抑郁症患者群体及部分精神分裂症患者家系的DNA为样本,对TH基因外显子3中的G334A和内含子9中的C5162G两个SNP位点进行分析。结果（1）G334A位点G和A的等位基因频率分布分别为：正常人群0.214和0.786;精神分裂症群体0.133和0.867;抑郁症群体0.116和0.884。（2）C5162G位点C和G的等位基因频率分布分别为：正常人群0.961和0.039;精神分裂症群体0.962和0.038;抑郁症群体0.959和0.041。结论G334A基因频率的分布在正常人群与精神分裂症和忧郁症群体之间的差别均有统计学意义,而C5162G基因频率的分布无统计学意义。     

A Grass Molecular Identification System for Forensic Botany: A Critical Evaluation of the Strengths and Limitations*

Abstract: Plant material is frequently encountered in criminal investigations but often overlooked as potential evidence. We designed a DNA‐based molecular identification system for 100 Australian grasses that consisted of a series of polymerase chain reaction assays that enabled the progressive identification of grasses to different taxonomic levels. The identification system was based on DNA sequence variation at four chloroplast and two mitochondrial loci. Seventeen informative indels and 68 single‐nucleotide polymorphisms were utilized as molecular markers for subfamily to species‐level identification. To identify an unknown sample to subfamily level required a minimum of four markers or nine markers for species identification. The accuracy of the system was confirmed by blind tests. We have demonstrated “proof of concept” of a molecular identification system for trace botanical samples. Our evaluation suggests that the adoption of a system that combines this approach with DNA sequencing could assist the morphological identification of grasses found as forensic evidence.     

死后小鼠脑组织细胞核DNA变化规律的研究

目的研究DNA降解变化与死亡时间的关系,为法医学推断死亡时间提供一种比较准确可靠的新方法。方法应用单细胞凝胶电泳（SCGE）技术结合荧光显微镜和专业的计算机图像分析技术,测定了111只小鼠在死后72h内不同时间点小鼠脑组织细胞核头半径（HeadRadius,HR）、尾长度（Tail Length,TL）、头DNA（HeadDNA）含量比例、尾DNA（Tail DNA）含量比例、尾矩（Tail Moment,TM）、Olive矩（Olive Moment,OM）、头面积（Head Area,HA）、尾面积（Tail Area,TA）8项参数的变化值。结果在个体死亡72h内,测定的8项参数指标中尾DNA含量比例、彗星尾长、尾矩、Olive矩、尾面积都呈增加趋势,头半径,头DNA含量比例,头面积均呈下降趋势。上述参数均与死亡时间具有高度的相关性。并将每个参数的测量值进行了多项式运算,获得了更能体现DNA降解趋势的二项式回归方程（P〈0．001）和多元回归方程（P〈0．001）,均具有高度的统计学意义。结论应用本研究提供的72h内脑组织DNA变化与死亡时间之间呈线性关系的各组回归方程,为法医学推断死后经过时间提供了一种新的、客观的、精确的方法和参考依据。     

A Phenomenological and Grounded Theory Study of Women’s Experiences in Drug Court: Informing Practice Through a Gendered Lens

Drug courts have been a growing part of the criminal justice system since 1989. This qualitative study adds to the existing literature by developing an in-depth understanding of drug court from a woman’s (N?=?25) perspective. Phenomenology and grounded theory guided the data collection and analysis, resulting in three themes. First, the women found the drug court team to be compassionate and empathetic, which they reported supported them in being successful in the program. Second, the majority of women reported histories of trauma and felt that the drug court could be improved by offering them more resources to treat their trauma. Third, the majority of women reported being single mothers and they shared examples of how being a single parent was a challenge to being successful in the drug court. Implications for drug court practice are discussed.     

Double Hanging with Single Ligature: An Unusual Method in Suicide Pact

A married casual labor couple was found hanging in their makeshift bedroom with each end of a single chunni (a cloth worn around the neck by Indian women) spread across an iron bar below the roof. They left their two children, daughter, and son of 4 and 3 yrs age, respectively, with their grandmother living separately nearby, and went to attend cremation of one of their relatives. They returned late in the evening and found hanging in their bedroom next morning by neighbors.     

The ‘unwanteds’ and ‘non-compliants’: ‘unsupported mothers’ as ‘failures’ and agents in Australia’s migrant Holding Centres*

Abstract

Ideas of assimilated citizenship are inherently gendered and during Australia’s post-World War Two migration boom they were deeply and explicitly invested in marriage, children and domesticity. In this period of social conservatism and economic boom, assimilation rhetoric functioned as a reassuring mirror for the host population, promoting the dream of prosperous family life as the ultimate aspiration for refugees and migrants. The role of immigration Holding Centres within this vision was to provide a context in which migrants and refugees could take their first steps towards accomplishing this dream. These Centres of necessary temporary residence were designed as sites of transition towards autonomous, assimilated family life. However, those families headed by single mothers, often referred to in government records as ‘unsupported mothers’, had limited opportunities to live up to such images of assimilation, or even to comply with the economic imperatives of the migration scheme that had brought them to Australia. Based mainly on Department of Immigration records, this article demonstrates that despite recognising the long-term economic and social prospects their children represented, government agencies viewed many unsupported mothers as system failures. They attempted to remedy the situation by turning these women into live-in domestic workers, at times placing pressure on them to institutionalise their children in order to facilitate this, thereby prioritising their compliance with economic imperatives over support for their parenting. Within the limited scope of their agency, unsupported mothers responded by attempting to negotiate the terms of their compliance or simply refusing to comply. For the latter group, Holding Centres became a more permanent home. This permanence is read here as a gendered form of resistance to a system that struggled to foster their economic self-reliance without compromising their capacity to be mothers.     

TaqMan探针技术用于X-SNP位点的分型

目的建立一种基于TaqMan探针技术的快速、准确且经济的实时荧光PCR方法,用于检测X染色体上的单核苷酸多态性(single nucleotide polymorphism,SNP)。方法选择X染色体上的13个SNP位点(X-SNP),针对每个位点分别设计1对PCR引物和TaqMan探针,进行实时荧光PCR扩增,对X-SNP位点进行分型。结果13个位点均符合Hardy-Weinberg平衡;多态信息含量分布为0.3497～0.3750,杂合度为0.4537～0.5021。建立的方法能够用于X-SNP位点的基因分型,检测结果与DNA测序结果完全一致。结论基于TaqMan探针技术的等位基因特异的实时荧光PCR方法灵敏、简单、快速,可实现对X-SNP位点的分型检测;所选择的13个X-SNP位点具有高信息量,在法医遗传学中具有潜在的应用价值。     

基于通用报告引物的5个Y-SNP复合扩增及其单倍型

目的建立一种简便、经济、高效的SNP复合扩增体系,为法医学应用打下方法学基础。方法选择5个Y-SNP位点——IMS-JST164520、IMS-JST021354、IMS-JST003305、M119和M134,针对每一位点设计5′端带有通用报告引物(universal reporter primer,URP)的等位基因特异性引物,先利用等位基因特异性PCR技术扩增不同位点的等位基因片段,再利用荧光标记的URP扩增检测所有位点的等位基因。结果成功构建了5个Y-SNP荧光复合扩增体系,分型结果显示:同一SNP位点的两个不同等位基因表现为不同颜色的产物峰,不同SNP位点间等位基因片段长度不同。5个Y-SNP在武汉汉族群体中的单倍型多样性为0.8655。结论基于URP的SNP复合扩增体系具有简便、经济、高效的特点,具有较高的法医学应用价值。     

采用STR和SNP遗传标记鉴定全同胞姐妹关系

目的 通过对常染色体和X染色体遗传标记的检测,探讨全同胞姐妹关系的鉴定策略.方法 提取姐妹个体的DNA,采用SinofileTM试剂盒检验常染色体上的15个STR基因座、采用Mentype(R) Argus X-8试剂盒和多重X染色体STR检测试剂盒检验X染色体上的17个STR基因座,同时采用TaqMan技术对11个X-SNP位点进行分型检测.结果 依据常染色体STR基因座的检测结果计算全同胞指数,不排除被检个体的同胞姐妹关系:X染色体上各个STR基因座和SNP位点均检见1～2个相同的等位基因,进一步支持被检个体的同胞姐妹关系.结论 对于全同胞姐妹关系的鉴定案例,除了检测常染色体STR基因座外,还可以从X染色体上选择多态性遗传标记进行检测,获得更多的遗传信息.     

Typing of 49 autosomal SNPs by SNaPshot in the Slovenian population

A total of 157 unrelated individuals residing in Slovenia were typed for 49 of the autosomal single nucleotide polymorphisms (SNPs) in the SNPforID 52plex with the SNaPshot^® assay. We obtained full SNP profiles in all but one individual and perfect concordance was obtained in duplicated analyses. Allele frequencies are presented for the 49 SNPs. No deviation from HWE was observed for any SNP. F_IS and F_ST were estimated. A principal coordinate analysis performed on six populations (Slovenian, Danish, Somali, Greenland, Turkish and Chinese) showed that the Slovenian population grouped with the Danish population. The mean power of discrimination for the Slovenian population was 1.1 × 10⁻¹⁹, and the mean exclusion probability for trios was 99.96%.