高强迫特质大学生的执行功能特征

目的:探索高强迫特质大学生的执行功能特征及其对高强迫特质大学生的鉴别作用。方法:纳入90名高强迫特质大学生[强迫问卷修订版(OCI-R)得分≥36分]和90名低强迫特质大学生(OCI-R得分≤22分),完成执行功能问卷(DEX)和贝克抑郁问卷(BDI)。采用工作特征曲线分析考察执行功能对高强迫特质大学生的鉴别作用。结果:高强迫特质大学生的DEX总分和各分量表得分均高于低强迫特质大学生(均P<0.001);OCI-R得分和DEX得分呈正相关(r=0.52,P<0.001);DEX的工作特质曲线下面积(AUC)为0.84。当DEX总分为23.5分(灵敏度84.4%,特异度59%)～26.5分(灵敏度78.9%,特异度70.9%)时,对高强迫特质大学生有良好的鉴别作用。结论:高强迫特质大学生可能存在较多执行功能异常行为,执行功能指标有助于识别高强迫特质。     

Mapping Quantitative Trait Loci for Open-Field Behavior in Mice

By performing a whole genome screen in an F₂ intercross of two strains of mice (A/J and C57BL/6J), which differ markedly in their behavioral response to a brightly lit open field (O-F), we have mapped several quantitative trait loci (QTL) for this complex behavioral phenotype. QTL on chromosomes 1 and 10 were identified that affect both initial ambulation in the O-F (initial response to novelty ambulation) (lod of 7.1 and 8.8, respectively) and vertical rearings (lod of 4.5 and 8.5, respectively). For habituated O-F behavior, QTL were identified on chromosomes 3 and 10 for ambulation (lod of 4.1 and 14.7, respectively) and on chromosomes 1, 10, and 19 for vertical rearings (lod of 5.8, 6.0, and 4.7, respectively). The QTL on chromosome 1 (near D1Mit1 16; 101 cM) was specific for initial O-F ambulation behavior, whereas the QTL on chromosome 10 (near D10Mit237; 74 cM) affected both initial and habituated rearing behavior. Additional suggestive QTL (lod, >2.8) were mapped to chromosomes 1, 8, 11, 15, and 19. The QTL on chromosomes 1, 10, and 19 individually explain from 3.2 to 12.7%. Collectively, the multiple independent QTL explain from 16.3 to 24.1% of the F₂ population's phe-notypic variance, depending on the trait. These identified QTL should prove useful for dissecting the genetic and behavioral dimensions of O-F behavior, fostering an understanding of individual differences.     

ACE基因座外影响循环ACE水平的数量性状基因座

血管紧张素转换酶(ACE)基因16内含子上一段287 bp ALU序列的插入/缺失(I/D)变异与循环ACE水平密切相关.以I/D多态位点为危险标记的病例-对照研究广泛开展,但结果存在差异.ACE基因座外影响循环ACE水平的数量性状基因座(quantitative trait loci,QTL)的发现一定程度上对结果间的差异进行了解释.对决定循环ACE水平QTL的研究,利于对机体循环血压长期调控机制及心脑血管疾病发病机制认识的深入.     

Using multivariate genetic modeling to detect pleiotropic quantitative trait loci

Large numbers of sibling pairs or other relatives are needed to detect linkage between a quantitative trait locus (QTL) and a marker, especially if the variance of the QTL is low relative to the total phenotypic variance of the trait. One strategy to increase the power to detect linkage is to reduce the environmental variance in the trait under analysis. This approach was explored by carrying out a series of simulation studies in which multivariate observations were used to estimate individual genotypic values at a QTL, that pleiotropically affected more than one trait. Simulations for different QTL allele frequencies with a completely informative marker showed that the power to detect the QTL increased substantially when estimates of individual genotypic values at the QTL were used in the linkage analysis instead of phenotypic observations. An advantage of this approach is that, rather than employing phenotypic selection, individuals with extreme genotypes may be selected when ascertaining a sample of extreme families.     

Mapping Multiple Quantitative Trait Loci for Ordinal Traits

Many complex traits in humans and other organisms show ordinal phenotypic variation but do not follow a simple Mendelian pattern of inheritance. These ordinal traits are presumably determined by many factors, including genetic and environmental components. Several statistical approaches to mapping quantitative trait loci (QTL) for such traits have been developed based on a single-QTL model. However, statistical methods for mapping multiple QTL are not well studied as continuous traits. In this paper, we propose a Bayesian method implemented via the Markov chain Monte Carlo (MCMC) algorithm to map multiple QTL for ordinal traits in experimental crosses. We model the ordinal traits under the multiple threshold model, which assumes a latent continuous variable underlying the ordinal phenotypes. The ordinal phenotype and the latent continuous variable are linked through some fixed but unknown thresholds. We adopt a standardized threshold model, which has several attractive features. An efficient sampling scheme is developed to jointly generate the threshold values and the values of latent variable. With the simulated latent variable, the posterior distributions of other unknowns, for example, the number, locations, genetic effects, and genotypes of QTL, can be computed using existing algorithms for normally distributed traits. To this end, we provide a unified approach to mapping multiple QTL for continuous, binary, and ordinal traits. Utility and flexibility of the method are demonstrated using simulated data.     

部队基层连队干部人格特征问卷的初步编制

目的编制适用于军队基层连队干部的人格特质问卷,为优化连队干部的心理素质提供实用的心理学测量工具。方法在问卷调查及访谈的基础上,运用探索性因素分析技术,对106名军队基层连队干部的人格特质结构进行了探讨。结果军队基层连队干部的人格特质主要包括5个方面：意志品质、工作能力、独立性、情绪稳定性和组织协调能力。所缟的问卷具有较好的信度和效度。结论该问卷基本上能够较为准确地测量出军队基层连队干部的人格特质。     

From mouse to humans: discovery of the CACNG2 pain susceptibility gene

Chronic pain is a major healthcare problem affecting the daily lives of millions with enormous financial costs. The notorious variability and lack of efficient pain relief pharmaceuticals provide both genetic and therapeutic challenge. There are several genetic approaches that aim to uncover the molecular nature of pain phenotypes into their genetic components. Gene mapping using model organisms for various pain phenotypes has led to the identification of novel genes affecting susceptibility and response to pain stimuli. Translational studies have succeeded to tie those genes to human pain syndromes, thus suggesting new targets for drug discovery. In this short review, a perspective on pain genetics and the trajectory from pain phenotype to pain gene involving fine-mapping strategies, bioinformatic analysis and microarray profiling alongside human association analysis will be introduced. This integrated approach has led to identification of CACNG2 as a novel neuropathic pain gene affecting pain susceptibility both in mice and humans. It also serves as a prototype for efficient and economic discovery of pain genes. Comparisons to other methods as well as future directions of pain genetics will be discussed as well.     

大学生归因方式与人格特质及父母教养方式的相关研究

目的探讨大学生归因方式与父母教养方式及自身人格特质三者之间的关系。方法以某高校161名大一到大三学生为被试,对其归因方式、人格特质及父母教养方式进行问卷调查。结果①大学生人格特质中精神质分数越高其归因总分越低(r=-0.215,P<0.01),外倾性分数越高其归因总分越高(r=0.180,P<0.05),神经质分数越高其内控归因的分数越高(r=0.284,P<0.01);②父母的惩罚严厉等因子分越高其大学生归因总分越高(r=0.176,0.165,P<0.05;r=0.271,0.241,P<0.01;r=0.280,P<0.001);③父母感情温暖理解因子分越高其大学生人格特质中的精神质、神经质的分数越低(r=-0.160,P<0.05;r=-0.263,-0.264,-0.240,P<0.01),其外倾性分数越高(r=0.199,P<0.05;r=0.230,P<0.01);父母惩罚严厉、拒绝否认因子分越高其大学生人格特质中精神质和神经质分数越高(r=0.197,0.178,P<0.05;r=0.257,0.208.0.268,0.267,0.299,P<0.01)。结论大学生倾性人格特质及父母的惩罚严厉、过度干涉、拒绝否认等教养方式易形成外控型归因方式,而高精神质的人格特质易形成内控型归因方式。     

Intragraft vascular occlusive sickle crisis with early renal allograft loss in occult sickle cell trait

Early renal allograft failure due to sickle cell trait is rare. We present clinical and pathologic findings in 2 cases of early renal allograft failure associated with renal vein thrombosis and extensive erythrocyte sickling. Hemoglobin AS was identified in retrospect. In case 1, a 41-year-old female recipient of a deceased donor renal transplant developed abdominal pain and acute allograft failure on day 16, necessitating immediate nephrectomy. In case 2, the transplanted kidney in a 58-year-old female recipient was noted to be mottled blue within minutes of reperfusion. At 24 hours, the patient was oliguric; and the graft was removed. Transplant nephrectomies had diffuse enlargement with diffuse, nonhemorrhagic, cortical, and medullary necrosis. Extensive sickle vascular occlusion was evident in renal vein branches; interlobar, interlobular, and arcuate veins; vasa recta; and peritubular capillaries. The renal arteries had sickle vascular occlusion in case 1. Glomeruli had only focal sickle vascular occlusion. The erythrocytes in sickle vascular occlusion had abundant cytoplasmic filaments by electron microscopy. Acute rejection was not identified in either case. Protein C and S levels, factor V Leiden, and lupus anticoagulant assays were within normal limits. Hemoglobin analysis revealed hemoglobin S of 21.8% and 25.6%, respectively. Renal allograft necrosis with intragraft sickle crisis, characterized by extensive vascular occlusive erythrocyte sickling and prominent renal vein thrombosis, was observed in 2 patients with sickle cell trait. Occult sickle cell trait may be a risk factor for early renal allograft loss.     

汉族人群肢体测量表型的地区差异

目的 探讨汉族人群肢体测量表型的地区差异。 方法 于2015～2019年采集广西南宁、河南郑州和江苏泰州3个地区汉族成人样本的31项肢体测量表型,对各项表型进行性别差异分析、年龄与表型间相关性分析及地区间差异分析,并基于肢体表型个体数据的主成分分析,提取出具有显著地区差异的肢体表型,用于精细刻画3个地区汉族人群的体质特征。 结果 3个汉族人群的绝大多数肢体表型在性别和地区间差异均存在统计学意义,年龄与部分表型之间存在正或负相关关系。基于个体数据的主成分分析显示,汉族人群在肢体测量表型上存在明显的地区差异,广西汉族（长江以南）与河南汉族（淮河以北）、江苏汉族有较大差异,河南汉族和江苏汉族的差异相对较小,而江苏汉族在部分肢体表型上又有其自身的特点,能与河南汉族明显区分开。 结论 汉族人群肢体测量表型存在明显的地区差异,长江可能是现代南北人群交流的最大地理屏障。