基于SNP位点的身高预测模型的评估

目的根据报道的547个欧洲人群身高相关SNP位点构建中国汉族男性身高预测模型,评估此模型预测身高的准确性。方法采用Affymetrix SNP Array 6.0芯片和Hi Seq 4000测序平台对59例山东汉族男性样本进行DNA分型检测,并将这547个身高相关SNP位点作为预测因子,采用加权等位基因求和(weight allele sums,WAS)的计算方法建立预测模型。通过受试者工作特征曲线及曲线下面积(area under curve,AUC)对身高预测模型的准确性进行分析。结果样本全基因组关联分析未发现身高显著相关SNP位点。本研究用WAS法构建身高预测模型,获得的AUC值为0.67(95%置信区间为0.53~0.90)。结论用547个SNP位点的WAS模型预测山东汉族男性群体身高具有参考价值,但预测模型准确度的进一步提升需要通过筛选更多具有人群特异性的身高相关SNP位点来实现。     

辽宁汉族人群HLA-A座位低分辨基因频率调查

人类白细胞抗原(HLA)是迄今所知人类基因组内最复杂、最具多态性的遗传系统,受控于人类第6对染色体短臂上(6P21),DNA序列长3600kb,约占人类基因组总长度的1/3000。其中含有224个基因座位,有功能的基因为128个,现发现至少有18个位点存在复等位基因。本文应用聚合酶链反应-序列特     

HLA区域SNPs及其在法医学中的应用价值

人类白细胞抗原是迄今为止人类发现的最复杂的基因系统。HLA区域SNPs的分布频率高于人类整个基因组水平达到8.6%。目前SNPs可用多种方法检测。本文主要综述HLA区域SNPs在法医学亲权鉴定和个人识别的应用价值。     

拷贝数变异研究新进展

基因拷贝数变异越来越被认为是个体之间在基因组序列差异上的一个重要源泉,是研究基因组进化和表型差异的一个重要因素。许多关于CNV的研究结果表明,拷贝数变异可导致不同程度的基因表达差异,对正常表型的构成及疾病的发生发展具有一定作用。在总结基因拷贝数变异的认识过程和研究策略的基础上,分析了拷贝数变异的形成和作用机制,介绍了第一代人类基因组拷贝数变异图谱,阐述了拷贝数变异研究的法医学意义,提示在探索疾病相关及法医学个体识别的遗传变异时不能错失拷贝数变异这一基因组多样性的新形式。     

北方汉族男性人群身高特征的遗传学研究

目的研究已报道的275个身高关联性SNPs位点与中国北方汉族男性身高的关联性。方法采用基质辅助激光解吸电离飞行时间质谱(MALDI-TOFMS)方法,检测了266例中国北方汉族男性人群样本的SNPs分型。采用PLINK 1.09和SPSS 19.0软件,利用三种方案进行关联性分析,分别是:身高数值变量线性回归分析;高(≥177.5cm)和低(≤167.5cm)两组(以平均身高172.5±5cm为分组标准)进行logistic回归分析;高(≥180cm)和低(≤165cm)两组进行logistic回归分析。结果 16个SNPs位点与北方汉族男性身高有显著关联性(P0.05)。身高均值方差分析显示,已报道与亚洲人群身高关联的rs11170624和与欧洲人群身高关联的rs10037512、rs17346452、rs2629046、rs7689420、rs8052560、rs7909670等7个SNPs在北方汉族男性的身高均值中差异有意义(P0.05)。其中亚洲人群的rs11170624和欧洲人群的rs17346452、rs7689420、rs7909670对北方汉族男性身高的影响效应与之前研究一致,而另外3个欧洲人群的SNPs对北方汉族男性身高的影响效应基因及方向与欧洲人群不一致。结论本研究揭示了身高关联SNPs位点具有较明显的人群差异性,构建适合中国汉族人群的身高预测模型还需要发掘更多、更准确的身高关联性SNPs遗传信息。     

基因技术的可专利性与投资保护

2000年6月26日,公立人类基因组和私营基因研究中心塞莱拉公司共同宣布基本完成了人类基因组草图,科学家们破译了97％的人类遗传密码,完成了85％的基因碱基对测序。这一成果对人类社会的发展有着划时代的意义,它标志着基因技术世纪已经来临,人类文明正面临一场基因革命。有关基因技术研究成果的法律保护问题也被提到专利保护层面上来。基因技术发明专利保护的必要性 知识创新与技术创新是基因技术世纪的核心,但仅有知识创新成果还不足以发展经济,占有市场份额,只有将其进行法律保护后,才能成为独特的发展优势。专利制度就是依照法律…     

线粒体DNA测序在法医物证检验中的应用现状及前景

人类线粒体DNA（mitochondrialDNA，mtDNA）基因组由16，569个碱基组成，】981年人们就已完成了对其全长碱基序列的测定【’】，并研究了其基因组的组成、组织方式及所编码的基因．mtDNA是独立于细胞核基因组而存在于细胞浆中的一组双链环状DNA序列，它按自己的方式与标准进行遗传和复制：呈母系遗传，其拷贝数高于目前所知的任何核基因，约500至1，000拷贝l细胞，wtDNA在维持细胞正常功能中起着十分重要的作用．近年来发现，mtDNA不仅编码参与氧化磷酸化中的13种多肽，还编码线粒体蛋白质合成中绝大多数RNA121早在1987年就有人发…     

全基因组扩增法应用于低拷贝数DNA检测

目的建立基于多重置换扩增(MDA)技术的全基因组扩增(WGA)方法,实现对低拷贝数(LCN)DNA样品进行分析。方法采用REPLI-g试剂盒对样本进行等温全基因组扩增,扩增产物采用ProfilerPlus试剂盒确定样本的十个STR基因座的等位基因型。结果10pgDNA模板经全基因组扩增后,能够进行DNA分型。结论全基因组扩增可以用于LCN的DNA分析,帮助提高微量物证的检出成功率。     

澳大利亚基因技术管理、立法及启示

一、引言继2000年6月26日人类第一个基因组草图绘制完成之后,今年2月12日科学家又公布了人类基因组图谱及初步分析结果,这无疑是人类科学史上出现的一座新里程碑。人类基因组计划被认为是人类最伟大的认识自身的科学探索之一,被喻为人类生命科学史上一次伟大的登月行为。之所以对人类基因组计划给予了极高的评价,是因为它第一次在分子水平上让人类了解了自身,并有助于破译人类全部遗传信息。人类基因组计划的成功,将给人类的发展带来前所未有的机遇和挑战。预示着“基因经济”将与信息经济一起,成为新经济的双子星。该计划的实施将极…     

基因隐私权的法律保护——基因技术面临的法律挑战

21世纪人类进入了"后基因组时代",面临着如何进一步将已经解析的基因组情报加以应用于人类各种生活领域的课题,与基因技术相关的伦理、法律以及社会问题研究成了人们关注的热点,而基因隐私权问题就是其中被重点关注的问题之一。本文从对基因信息的概念及特征分析入手,提出对基因隐私权的法律保护,这正是基因技术对所面临的法律挑战做出的必要应对措施。     

PULLING BACK THE CURTAIN ON HERITABILITY STUDIES: BIOSOCIAL CRIMINOLOGY IN THE POSTGENOMIC ERA

Unfortunately, the nature‐versus‐nurture debate continues in criminology. Over the past 5 years, the number of heritability studies in criminology has surged. These studies invariably report sizeable heritability estimates (～50 percent) and minimal effects of the so‐called shared environment for crime and related outcomes. Reports of such high heritabilities for such complex social behaviors are surprising, and findings indicating negligible shared environmental influences (usually interpreted to include parenting and community factors) seem implausible given extensive criminological research demonstrating their significance. Importantly, however, the models on which these estimates are based have fatal flaws for complex social behaviors such as crime. Moreover, the goal of heritability studies—partitioning the effects of nature and nurture—is misguided given the bidirectional, interactional relationship among genes, cells, organisms, and environments. This study provides a critique of heritability study methods and assumptions to illuminate the dubious foundations of heritability estimates and questions the rationale and utility of partitioning genetic and environmental effects. After critiquing the major models, we call for an end to heritability studies. We then present what we perceive to be a more useful biosocial research agenda that is consonant with and informed by recent advances in our understanding of gene function and developmental plasticity.     

Consent forms in genomics: the difference between law and practice

Consent forms are the principal method for obtaining informed consent from biomedical research participants. The significance of these forms is increasing as more secondary research is undertaken on existing research samples and information, and samples are deposited in biobanks accessible to many researchers. We reviewed a selection of consent forms used in European Genome-Wide Association Studies (GWAS) and identified four common elements that were found in every consent form. Our analysis showed that only two of the four most commonly found elements in our sample of informed consent forms were required in UK law. This raises questions about what should be put in informed consent forms for research participants. These findings could be beneficial for the formulation of participant information and consent documentation in the future studies.     

Frequency of laryngeal and hyoid bone trauma in nonhomicidal cases who died after a fall from a height

A retrospective study was carried out on 93 autopsy cases who died after a fall from a height. For each case, following parameters were reported: age, sex, manner of death, estimated height of fall, ground type, estimated site of primary impact, type of laryngeal and hyoid bone trauma, presence of associated local trauma in the neck and cephalic region. Mean age of the studied population was about 33 years. Sex ratio (men/women) was 1.8. Mean height of fall was about 15 m. Manner of death was, respectively, suicide and accident in 70 and 23 cases. The type of ground was concrete in 94% of the cases. The site of primary impact was, respectively, head, front of the body, back of the body, feet/lower limbs, and lateral body in 31, 26, 19, 12, and 5 cases. Cervical soft tissue bruising without laryngohyoid fractures was found in 5 cases. Laryngohyoid fractures were found in 5 cases. These fractures could be explained by direct impact of the neck structures against the ground. The mechanism of these fractures could also be indirect fractures due to high muscle strains on the hyoid bone or thyroid cartilage due to cervical hyperflexion or hyperextension or secondary to mandible or cervical vertebral column fractures.     

The completed suicide as interplay of genes and environment

The review will tackle the interplay of genetic and environmental risk factors behind the completed suicide. First, individual differences in suicidal behaviour in relation to heritability are presented followed by a brief discussion of genetic methods currently used to investigate candidate genes for the completed suicide. Further along the polygenetic, multi-factorial model of genetic proneness to suicidal behaviour is presented as interplay of genes and environment. Finally, the future implications in this quickly blossoming field of research are discussed.     

Racial variation in the proximal and distal femur: heritability and forensic utility.

The femur has been studied successfully by physical anthropologists for many years. Such traits as femoral head diameter and bicondylar width have been examined extensively and are of great value to forensic anthropologists and other skeletal biologists in sex identification. A number of studies over the past decade by the author and his former students have shown marked racial differences in the shape of the proximal femur and in at least one trait of the distal femur--intercondylar notch height. Anterior-posterior (AP) diameter of the proximal femur is much greater among Whites and Blacks than among East Asians and American Indians. Blacks have slightly greater intercondylar notch height than Whites. Other features, such as torsion, also differ between the major geographic racial populations. Current analysis suggests that the East Polynesians fall close to the American Indians and East Asians in the degree of flatness of the proximal femur. One study has tracked the degree of change in flatness during individual development, and finds little change within major populations from the youngest to the oldest individuals. Temporal changes within populations are likewise minimal. Two studies have examined sex differences within populations, which are also found to be very slight. Racial differences, on the other hand, are quite significant, and individuals of admixed ancestry fall intermediate between the two parental populations. Such suggestions of high heritability in the shape of the proximal and distal femur make these traits very useful in assessing ancestry in forensic contexts.     

Accumulation of population polymorphisms in the mitonuclear genome with probable adaptive effect to extreme environments as altitude for forensic purposes

We analyzed the accumulation of population polymorphism in 2504 individuals - nuclear genomes (nDNA) of 26 populations (81 genes associated to extreme environments) and 3295 mitochondrial genomes (mtDNA) of 47 populations with the aim to found mitonuclear relationship associated an extremes environment as altitude. For that, we use an algorithm developed by us to determine the accumulation of polymorphisms by segments in the genome and thus be able to perform the multivariate analysis to found SNPs differences and similarities among populations. The results showed in Peruvian population a statistically significant mitonuclear relationship for 113/293970 nDNA SNPs in 16/81 genes. In the case of the mtDNA, we found a statistically significant mitonuclear relationship for 6/22 mtDNA positions – Gene. Additionally for the Peruvian population, the MRPP3 had the greatest polymorphism contribution with respect to other populations. Then, these nDNA and mtDNA SNPs in genetically close populations to Peru can be applied to forensic genomic phenotyping to identify groups likely adapted to extreme conditions (such as altitude) or make individualization between low and high altitude populations.     

Fatal falls from a height: two case studies

Two case studies are presented involving fatal falls of adult females from a height. One involved a launch at low speed from a balcony, and one involved a launch at high speed from the top of a cliff. Crime scene evidence obtained on the balcony itself provided a strong indication of homicide, but subsequent investigation showed that the fall was accidental. No crime scene evidence was obtained for the cliff fall since the fall initially appeared to be just another suicide from a popular suicide spot. Subsequent investigations indicated homicide based on measurements of cliff height, horizontal distance to the impact, and available runup distance, plus measurements of possible run, jump, and throw speeds. It was found that a female weighing 61 kg (134 lb) can be thrown at speeds up to 4.85 m/s by a strong male, more than enough to account for the estimated launch speed (4.5 m/s). Given the available 4.0 m runup distance, it was found that women of better than average rather than elite athletic ability can dive at speeds of about 3.5 m/s or jump feet first at speeds of about 4.0 m/s, both being less than the estimated launch speed. The decedent had no athletic ability and landed head first after falling through a height of 29 m.     

Progress toward racial equality and reduction of black criminal violence

Trends in racial inequality and in black involvement in violence were examined to determine whether black progress toward equality and the Black Power Movement could have contributed to a reduction in black violence. The belief that egalitarian trends and the Movement could have ameliorative effects on violence is supported by subcultural theories, Fanon's Colonial Model, and other social scientific statements. The trends are consistent with the belief, structural changes indicated by educational and political progress being closely associated with violence reduction. But cultural change seems important too because, despite a period of black economic progress, no violence reduction occurred before an improvement in black self-concept. Indeed, the earliest black income and occupational gains were associated with several years of increasing black violence. Thus, the purely structural explanation of Blau and Blau (1982) and their emphasis on economic progress are questionable. In addition, Skogan's (1979) demographic explanation of the decrease in black violence in the early 1970s is shown to lack merit.     

论民间表演艺术表演者集体权主体

民间表演艺术表演者集体权是表演者权但有其特殊性。民间表演艺术表演者集体权主体显示出群体性、空间性、一定的传承性。理论界对民间表演艺术表演者集体权主体类型的界定存在诸多争议,其中"群体说"体现了民间表演艺术的民间根基、权利主体法定性、创作主体群体性。考量国际立法原则、行为要素、物理要素,民间表演艺术表演者集体权主体包括国家、民族、种群、种族、传承人、表演者特定群体。外国立法及国际公约有相应规定,我国无明文立法。     

The Heritability of Palatal Rugae Morphology Among Siblings*†

Although there is clinical applicability of the palatal rugae as an identification tool in forensic odontology, controversy exists whether the palatal rugae patterns are stable or variable. The greater the genetic component, the higher the probability that palatal rugae patterns are stable. The aim of this study was to compare the palatal rugae morphology between full siblings and the proportion of variability due to genetic component. This cross-sectional study was conducted on digital models of 162 siblings aged 15–30 years old. The palatal rugae patterns were assessed with Thomas and Kotze (1983) classification using Geomagic Studio software (3D Systems, Rock Hill, SC). The palatal rugae morphology between siblings showed significantly similar characteristics for total number of left rugae (p = 0.001), left primary rugae (p = 0.017), secondary rugae for right (p = 0.024) and left sides (p = 0.001), right straight rugae (p = 0.010), and right convergent rugae (p = 0.005) accounting for at least 6.25%-12.8% of the variability due to heredity. Despite the similarities found, the palatal rugae patterns showed significant differences between siblings of at least 46.9% (p = 0.001). Zero heritability was found in 9 of the 14 rugae patterns. Meanwhile, total number of rugae, primary, backward, and convergent rugae showed moderate heritability (h² > 0.3) and total number of secondary rugae showed high heritability (h² > 0.6). In conclusion, despite the individuality characteristics, an appreciable hereditary component is observed with significant similarities found between sibling pairs and the palatal rugae patterns were both environmentally and genetically influenced.