中国广东汉族群体mtDNA控制区的多态性

目的 探讨线粒体DNA控制区(包括HVⅠ区、HVⅡ区和HVⅢ区)的多态性。方法 采用PCR扩增和末端标记荧光循环测序的方法，对100名广东汉族无关个体进行了序列分析。结果 共观察到147个变异位点，序列变异包括了碱基转换、颠换、插入、缺失等各种类型。其中在HV Ⅰ区(nt16，024～nt16，365)内观察到88个变异位点，91种单倍型，基因多样度为0.9964；在HVⅡ区(nt73～nt340)观察到42个变异位点，67种单倍型，基因多样度为0.9861；在HVⅢ区(nt438～nt574)观察到9个变异位点，15种单倍型，基因多样度为0.8760。联合3个高变区域的序列，可观察到98种单倍型，基因多样度为0.9996。结论 本研究为线粒体DNA在法庭科学中的应用提供了较系统的实验依据。结果还表明，对于mtDNA等单倍型遗传标记，增加其检测范围，可提高该系统的个体识别能力，使其在法庭科学领域充分发挥作用。     

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。     

新农村建设背景下农村地区遗传资源的保护和利用

遗传资源是上世纪末以来人们日益关注的宝贵资源之一,可以分为植物遗传资源、动物遗传资源和人体基因资源。我国是遗传资源保护大国,大量的遗传资源存续于农村地区。当前的遗传资源面临流失和被剽窃的局面,存续状况不容乐观。新农村建设为农村地区的遗传资源保护工作明确了指导思想,提供了良好的工作环境和有效的工作方式。因此,完善法制建设,发挥基层组织作用,鼓励科学合作研究,提高农民素质和保护意识,探索遗传资源利用的商业化运作模式,是加强农村地区遗传资源保护和利用的有效途径。     

D19S400基因座在中国3个汉族群体与日本人中的遗传多态性研究

为了解中国广州、吉林、成都三个地区汉族和日本人群体D19540O基因座基因频率分布，并获得中国三个汉族群体和日本群体D19M00基因座的群体遗传数据，比较它们之间的遗传学差异，探究在法医学应用中的意义。应用PCR扩增技术，聚丙烯酸胺凝胶垂直板电泳对D19S400基因座分型。在四个群体469个个体中共检出11个等位基因，45种基因型，基因型频率分布均符合Hardy-Weinberg平衡。各群体的观察杂合度为0.75～0.84，非父排除概率为0.6057～0.6582，个人识别机率为0．9301～0．9480。四个群体之间基因频率分布无显著性差异（P＞0．05）。结果表明，D19S400基因座在群体遗传学研究和法医学个人识别中有较高应用价值。     

Differential infant mortality viewed from an evolutionary biological perspective

Evidence from family reconstitution studies suggests that variations in infant mortality may reflect differences in parental solicitude. For various proximate reasons that might originate from emotional, material or social interests, parents may be inclined to invest differently in the survival of their offspring. Evolutionary theory holds that the behavior-regulating mechanisms that cause differential parental care operate in a biologically functional manner. They obey the biological imperative of striving to propagate one's own genetic material in the gene pool of the population to the best possible degree, in view of prevailing socioecological constraints. From a Darwinian point of view, differential parental investment can be best understood as a socioecologically contingent tactical measure within an adaptive, i.e., genetic fitness enhancing strategy. Therefore, human reproductive decisions remain poorly understood unless their biological function in the Darwinian fitness competition is taken into consideration.     

An Examination of the Relationship Between Competency to Stand Trial,Competency to Waive Interrogation Rights,and Psychopathology

This study compared the legal abilities of defendants (N = 212) with current primary psychotic disorders (n = 44), affective disorders (n = 42), substance abuse disorders (n = 54), and no diagnosed major mental illness (n = 72). Defendants with primary psychotic disorders demonstrated more impairment than did other defendants in their understanding of interrogation rights, the nature and object of the proceedings, the possible consequences of proceedings, and their ability to communicate with counsel. Psychosis was of limited value as a predictor however, and high rates of legal impairment were found even in defendants with no diagnosed major mental illness. Sources of within-group variance were examined to further explain this finding. Policy and clinical implications of these results are discussed.     

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。     

191名白山市汉族CODIS系统9个STR位点群体遗传学调查

目的　白山汉族CODIS系统 9个STR位点基因频率调查及其法医学应用 ;　方法　实验样本从 191位无相关白山市汉族个体获取 ,采用PCR复合扩增及 310遗传分析仪自动基因分型 ;　结果　这 9个STR位点均为高识别率位点 ,同重庆汉族人群群体遗传学数据比较显示有显著性差异 ;　结论　基因频率适合于白山汉族人群同一性概率及亲子鉴定概率计算 ;中国南北方汉族在个体识别及亲子鉴定概率计算时应采用本民族自己的等位基因频率。     

Exploring the influences on Australian agricultural professionals’ genetic engineering beliefs: an empirical analysis

This paper analyses what influences professionals’ beliefs on agricultural genetic engineering. A telephone survey was conducted in 2004 on Australian public agricultural professionals. Using an ordered probit regression, some of the significant key influences on overall beliefs were: age; research relevance; ethnicity; farm background; information and occupational effects; attitudes towards the current sustainability of conventional agriculture; attitudes towards agricultural research issues; and attitudes towards the individual aspects of genetic engineering. Somewhat surprisingly, subjective knowledge of genetic engineering was not a significant factor in influencing overall beliefs, although it did play a positive influence on some individual beliefs (such as the technology’s profitability benefits and that there is no need for more long-term research before further general release of genetically engineered products). However, more research on the links between actual knowledge and acceptance are needed before any definitive conclusions can be drawn.

Genotyping of DNA samples under adverse conditions of Low Copy Number—LCN (formolisados tissue samples and embedded in paraffin)

This paper aims to describe and evaluate a protocol for extraction of DNA (deoxyribonucleic acid) in formalinized tissues and embedded in paraffin for forensics genetic analysis. In outline the method is the removal of paraffin with an organic solvent in 0.3–0.5 mg of the sample of the tissue under study, followed by removal of formaldehyde, rehydration and soon after the extraction of genomic DNA. The extraction is achieved through the stages of cellular lysis, enzymatic digestion of proteins and DNA precipitation in ethanol medium. With the research we can conclude that even when the DNA is present in small quantities in conditions of extreme difficulties in its extraction, as formalinized tissues and embedded in paraffin, the technique of optimizing the extraction of DNA used both to organic extraction as Chelex, for use in the polymerase chain reaction (PCR), and possible the investigation of different samples of human tissue, biological samples, or was obtained under the conditions tested, a DNA with good quality and concentration. The samples were amplified for the mini-STRs loci using the product marketed in multilocus, using a methodology recommended by the supplier and validated for analysis of forensic DNA. Commercial kit was used MiniFiler from Applied Biosystems. The DNA fragments amplified by PCR showed that the extracted DNA had good amplification.