武汉汉族群体3个多拷贝Y-STR基因座的遗传多态性

目的提供DYS385、DYS459和DYS464基因座的群体遗传学资料。方法用荧光标记引物及ABI 3100型基因分析仪对武汉地区176名汉族男性无关个体的DYS385、DYS459和DYS464 3个多拷贝Y-STR基因座进行分型。结果在DYS385和DYS459基因座的个体,可观察到1~2个不同长度的扩增产物;DYS464基因座个体,可观察到1~4个不同长度的扩增产物。DYS385基因座检出14个等位基因及47种单倍型,DYS459检出4个等位基因及7种单倍型,DYS464检出9个等位基因及51种单倍型,其单倍型多样性分别为0.9591、0.6047和0.9560。3个基因座构成的联合单倍型共有133种,其多样性值达0.9909。结论3个多拷贝Y-STR基因座均为高多态性的遗传标记,联合应用具有较高的个体分辨能力。     

Etiological Similarities Between Psychological and Physical Aggression in Intimate Relationships: A Behavioral Genetic Exploration

Previous research has consistently shown that there is a strong association between psychological and physical aggression in intimate relationships. Theories as to why this association exists include that they have a single underlying etiology with differing thresholds, or they have separate etiologies and there is a two-step process by which psychological aggression moves to physical. The current study suggests that these two theories are not necessarily competing theories. The genetic and environmental covariance between psychological and physical intimate partner aggression were examined in 134 monozygotic (MZ) and 41 dizygotic (DZ) twin pairs. Results showed that psychological and physical aggression have largely the same genetic etiology, and any differences between the two are a function of differing nonshared environmental influences.     

中国北方7个群体血痕GLOI遗传多态性现象的研究

应用琼脂糖水解淀粉凝胶平板电泳法，对中国内蒙古呼盟鄂伦春、鄂温克、达斡尔、布里亚特、（东北）蒙古人及包头市（西北部）蒙古族、汉族人血GLOI遗传多态性进行了调查，抽样检测7个群体GLOI表型分布频率，计算出基因频率和识别能力。并将本组7个群体表型频率、基因频率与国内外不同民族、不同地区的表型频率和基因频率进行了比较，阐述了上述7个群体GLOI遗传多态性特征。根据表型频率计算出识别能力（DP值），并评价了GLOI在亲子鉴定和个体识别中的应用价值。     

The physical competence test of the Dutch National Police: The effects of wearing a police uniform on test performance

ABSTRACT

In this study, we investigated the effects of wearing a police uniform and gear on officers’ performance during the Physical Competence Test (PCT) of the Dutch National Police. In a counterbalanced within-subjects design, twenty-seven police officers performed the PCT twice, once wearing sportswear and once wearing a police uniform. The results showed clear indications that wearing a police uniform influenced the performance on the PCT. Participants were on average 14 seconds slower in a police uniform than in sportswear. Furthermore, performing the test in uniform was accompanied by higher RPE-scores and total physiological load. It seems that wearing a police uniform during the test diminishes the discrepancy between physical fitness needed to pass the simulated police tasks in the PCT and the job-specific physical fitness that is required during daily police work. This suggests that wearing a police uniform during the test will increase the representativeness of the testing environment for the work field.     

Direct‐to‐Consumer Genetic Testing,Gamete Donation,and the Law

Once thousands of dollars, direct‐to‐consumer (DTC) genetic testing has become affordable and readily accessible in recent years. The technology can reveal a wealth of information to consumers: health risks, ancestry composition, and connections to genetic matches through relative databases. However, the law has not yet regulated many aspects of this new technology. This article analyzes how the law should regulate DTC genetic testing within the context of gamete donation. It will argue that gamete donors’ privacy interests warrant state regulation of DTC genetic testing kits and their associated genetic relative databases. It will also explore how state regulation should balance the competing interests of gamete donors and of donor‐conceived individuals.     

Evaluating probabilistic genotyping for low-pass DNA sequencing

Most genomic methods consider the sample genotype. Data are evaluated at some location, and if the signal strength is sufficient, a genotype call is made. Conversely, sites that lack sufficient signal are treated as missing data. Such methods for genotype calling are binary, and this dichotomy limits genomic analyses to relatively high-coverage (and high-cost) massively parallel sequencing (MPS) data. It follows that bioinformatic methods that rely on genotypes may not be ideal for trace DNA samples, such as those sometimes encountered in forensic investigations, but even when applicable such analyses can be expensive. However, there are some genomic analyses where having many uncertain genotypes (with measured uncertainty) assayed over the entirety of the genome may be more powerful than current multi-locus approaches that consider a limited number of well-characterized markers. Methods for such problems may rely on genotype likelihood, which expresses the likelihood of alternative genotype calls in addition to the most likely call. One application that can benefit from genotype likelihoods is kinship analysis. NgsRelate is a bioinformatic tool that infers pairwise relatedness using a probabilistic genotyping framework, which accommodates the uncertainty associated with genotype calls for low-pass MPS data. Here, NgsRelate was used to infer kinship coefficients from low-pass whole genome sequencing data from a known pedigree. Multiple samples in a titration series (ranging from 50 ng to 0.5 ng) on a single MPS S4 flow cell were assessed. A reproducible scientific bioinformatic workflow was developed to evaluate kinship coefficients considering up to 3rd degree relatives. NgsRelate was found to provide robust assessments of kinship. Further, the use of low-pass MPS data provides a more cost-effective way to conduct forensic investigations.     

Self‐reported Mental Health Issues Among Arrestees in the Paris,France Area

We studied (May–September 2014) all arrestees who reported mental health issues during the medical examination performed by a forensic physician for the assessment of fitness for detention. Among 4814 arrestees, 420 (9%) reported a current mental health issue. The suspected crimes among arrestees reporting a current mental health issue were more often related to violent behaviors (physical assault, 23% vs. 16%, p < 0.001, sexual assault, 3% vs. 1%, p = 0.01) and less often drug offenses (18% vs. 29%, p < 0.001). Among arrestees reporting mental health issues, 80% reported psychiatric or psychological care, of whom 33% reported previous mental health care. Decisions of unfitness for detention were more frequent among arrestees reporting mental health issues than in other detainees (3% vs. 1%, p < 0.001). The high proportion of patients with interrupted mental health care among those reporting mental disorders suggests that the medical examination during custody could be a significant opportunity to restore psychiatric care.     

Population genetics data of 23 autosomal STR loci for three Populations in United Arab Emirates

In the present study, forensic parameters were estimated for three populations residing in the United Arab Emirates (UAE) including UAE Arabs, Pakistanis and Indians based on the population data of 23 autosomal short tandem repeats (STRs). The UAE Arabs is a vital population to study due to high rates of consanguineous marriages. Therefore, it is essential to estimate the allele distribution and frequencies within this population. In addition, it is crucial to study the largest communities living in the UAE such as Indians and Pakistanis. A total of 1272 blood samples were collected on FTA® cards, comprising of 571 UAE Arabs, 352 Indians and 349 Pakistanis. All of these samples were amplified directly using Verifiler® Express PCR Amplification Kit that focuses on 23 autosomal STR loci, namely D3S1358, vWA, D16S539, CSF1PO, TPOX, D8S1179, D21S11, D18S51, D2S441, D19S433, TH01, FGA, D22S1045, D5S818, D13S317, D7S820, D10S1248, D1S1656, D12S391, D2S1338, D6S1043, Penta D and Penta E loci. The PCR products were electrophoresed on ABI 3500 Genetic Analyzer and analyzed using GeneMapper ID-X v1.4 software. Arlequin v3.5 and PowerStats software were utilized to determine the forensic parameters and population structure using AMOVA. Gene diversity, ranged from 0.67406 (TPOX) to 0.9226 (Penta E) in the UAE Arabs, 0.69955 (TPOX) to 0.9214 (Penta E) in Indian and 0.69853 (TPOX) to 0.921 (Penta E) in Pakistani population. The most discriminating autosomal STR loci observed was Penta E (PD = 0.985), (PD = 0.986), (PD = 0.986) in the UAE Arabs, Indian and Pakistani population, respectively. The obtained results showed the 23 STR loci had a relatively high genetic variation, confirming the suitability for forensic identification and kinship analysis, in the relevant populations. The significance of this study is to build an allelic frequency database for one of the most powerful commercially available STR amplification kits by using the current forensic workflow.     

From unknown to known: Identification of the remains at the mausoleum of fosse Ardeatine

During the Second World War, on 24th March 1944, 335 Italians were massacred near Rome by the occupying forces of Nazi Germany. Four months later forensic examination led to the identification of 323 out of 335 victims. After approximately 60?years, the identification of the remaining unidentified twelve victims began with anthropological and genetic analysis carried out by a team of Italian forensic experts. Anthropological analysis was performed in field in order to confirm the sex of each victim and verify the presence of only one individual in each grave for a correct sampling. Selected bone fragments for each individual were then collected and transferred to the laboratory for genetic analysis. Although the anthropological ante mortem information was limited, morphological and metrical data was collected for a possible future identification of the victims. Subsequently, the typing of autosomal loci, Y-STR and mtDNA D-loop region of all bone and available reference samples was conducted. LR and cumulative LRs obtained from autosomal STR and Y-STR results confirmed the alleged relationship between three victims and their relatives with values over 10⁴ (one sample) and 10⁶ (two samples). Therefore, the genetic analysis offered the families the possibility of replacing the number of the grave with the name of the victim.     

32例父权鉴定DNA指纹图结果与血型血清学方法检测结果的比较

32例父权鉴定案例,应用‘Myo’小卫星DNA探针,以Southern印迹杂交技术进行DNA分析,所得结果与血型血清学检测方法(15～24种红细胞抗原、血清蛋白型及红细胞酶型系统)的结果比较,获得一致性结论。其中8例排除父权,24例肯定父权。并就两种检测方法的内部联系进行了讨论。