Why endophenotype development requires families

Endophenotypes are heritable quantitative traits that are associated with disease liability, can be measured in both affected and unaffected individuals, and provide much greater power to localize and identify risk genes for mental illness than does affection status alone. Traditionally, endophenotypic markers for psychiatric illnesses include in vivo neuroanatomic and functional magnetic resonance imaging measurements and indices of neurocognitive abilities. However, neurocognitive and neuroimaging measure...     

Which neurological abnormalities and neuropsychological impairments share the same substrate in psychosis?

Approximately 60% of subjects with schizophrenia present minor neurological signs (neurological soft signs, NSS), which include abnormalities in sensory and motor performance indicative of a non-specific cerebral dysfunction. These are also present in healthy individuals and relatives of patients with psychosis, at significantly lower rates. The excess of NSS in psychosis may be a potential endophenotype for this disorder, and reflect the same neurodevelopmental brain dysfunction that also underlies the cognitive deficits consistently reported in psychosis. To establish whether neurological and cognitive dysfunction meet the essential criterion required for a refined endophenotype for psychosis, the association with the illness, we explored evidence that certain neurological and cognitive deficits co-occur in affected individuals. This evidence suggests that signs of motor dysfunctions may be specific to patients with psychosis, in whom they are associated with dysfunction in cognitive tasks requiring motor skills. Thus, they may form a promising candidate endophenotype for psychosis.     

Neurogenic hypothesis and psychiatric disorders

Psychiatric illness, such as affective disorders, anxiety disorders and schizophrenia, exerts exceptional personal burden on affected individuals. Although not physically noticeable, these disorders cost enormously on ones’ family and society. Currently pharma-ceutical and psychological treatments are generally accepted as effective for psychiatric disorders, while the exact mechanisms underlying the treatment efficacy, etiology and neurobiology of the disorders remain elusive. In the past decade, "neurogenic hy-pothesis" emerged as an attempt to explain the nature of psychiatric illness. The origination of the hypothesis is based on several pre-clinical and clinical observations. First, stress, which is a common risk factor of the disorders, was found to suppress neurogenesis; second, treatment for the illnesses like antidepressants and antipsychotics were shown to improve neurogenesis and behavioral deficits simultaneously; and third, the therapeutic effect of antidepressants was abolished in animal models when neuro-genesis was blocked. Increasing efforts were invested to determine whether neurogenesis is a key to the understanding and treatment of psychiatric disorders, although contrasting results are also found and thus the importance of neurogenesis remains a matter of debate. The present chapter will discuss the recent findings about the involvement of neurogenesis in major depression, anxiety disorders and schizophrenia, and whether neurogenesis would be a potential target for development of the treatment in the future.     

心理治疗还是药物治疗

心理治疗与药物治疗是精神病领域的两种治疗模式。心理治疗模式认为，个体精神状况正常与否主要受情绪、人格等心理因素影响，精神疾病由后天环境和生活经历所致；药物治疗模式则认为，精神病及各类神经症都有其生理基础，大脑机能的缺陷是导致精神疾病的主要原因，因此主张用药物进行治疗。尽管两者在精神病治疗中都有自己的优势与不足，但是在科学一统天下的今天，生物学模式似乎成了治疗的主流。要想最终解决心理治疗与药物治疗之争，科学预测精神病治疗的未来及新世纪心理治疗的命运，必须首先解决：（1）心理学的学科体系问题；（2）精神疾病的界定问题以及（3）心身关系问题。     

A family study of endophenotypes for psychosis within an early intervention programme in Hong Kong: Rationale and preliminary findings

The study of endophenotypes may be a viable strategy to tackle the genetic complexity and phenotypic heterogeneity of psychosis, but this research direction is relatively under-developed in China as compared to Western countries. We have recently initiated one of the first family studies of endophenotypes for psychosis in China. Patients entering an established early psychosis intervention service are recruited into this research project for phenotyping, endophenotyping and genotyping. At the endophenotypic...     

Education policy and the heritability of educational attainment

Many workers assume that genetically determined differences in intellectual ability will be influenced little by changes in educational policy or other environmental interventions. Others, however, have suggested that increasing equality of educational opportunity will lead to an increase in the heritability of educational attainment. The resolution of this issue has been delayed until now because of the extremely large sample sizes which would be required. Education data on twins and their parents, from the Norwegian twin panel, provide a unique opportunity to determine the impact on the heritability of educational attainment of the more liberal social and educational policies introduced in Norway after the Second World War. As reported here, for individuals born before 1940 there is a strong effect of family background on educational attainment, accounting for 47% of the variance, though genetic factors account for an additional 41% of the variance. For females born after 1940 and before 1961, the relative importance of genetic (38-45%) and familial environmental (41-50%) differences changes very little. For males born during the same period, the broad heritability of educational attainment has increased substantially (67-74%), and the environmental impact of family background has correspondingly decreased (8-10%). For males, at least, having well-educated parents no longer predicts educational success, as measured by duration of education, independent of the individual's own innate abilities.     

Which neurological abnormalities and neuropsychological impairments share the same substrate in psychosis?

Approximately 60% of subjects with schizophrenia present minor neurological signs (neurological soft signs, NSS), which include abnormalities in sensory and motor performance indicative of a non-specific cerebral dysfunction. These are also present in healthy individuals and relatives of patients with psychosis, at significantly lower rates. The excess of NSS in psychosis may be a potential endophenotype for this disorder, and reflect the same neurodevelopmental brain dysfunction that also underlies the cog...     

Genetic contributions to stability and change in intelligence from childhood to old age

Understanding the determinants of healthy mental ageing is a priority for society today. So far, we know that intelligence differences show high stability from childhood to old age and there are estimates of the genetic contribution to intelligence at different ages. However, attempts to discover whether genetic causes contribute to differences in cognitive ageing have been relatively uninformative. Here we provide an estimate of the genetic and environmental contributions to stability and change in intelligence across most of the human lifetime. We used genome-wide single nucleotide polymorphism (SNP) data from 1,940 unrelated individuals whose intelligence was measured in childhood (age 11 years) and again in old age (age 65, 70 or 79 years). We use a statistical method that allows genetic (co)variance to be estimated from SNP data on unrelated individuals. We estimate that causal genetic variants in linkage disequilibrium with common SNPs account for 0.24 of the variation in cognitive ability change from childhood to old age. Using bivariate analysis, we estimate a genetic correlation between intelligence at age 11 years and in old age of 0.62. These estimates, derived from rarely available data on lifetime cognitive measures, warrant the search for genetic causes of cognitive stability and change.     

民族地区高校学生抑郁及影响因素调查

采用抑郁自评量表（Self-Rating Depression Scale,SDS）、信任他人量表（Trust in People,TiP）以及自制人口学调查问卷,对民族地区某高校在校本科生进行了抽样调查,结果显示,抑郁率为35.7%,性别、年级、专业、居住环境、家庭状况、经济状况、个性特征以及精神疾病家族史与抑郁呈显著相关.建议积极关注大学生抑郁状况,提前干预抑郁情绪,以促进大学生心理健康发展.     

杉木种子园遗传效益的估算

<正>杉木无性系种子园的面积3.0公顷,包括46个无性系,于1966年进行嫁接。实生苗种子园的面积0.6公顷,包括30个自由授粉的家系,于1967年栽植。 根据子代测定的结果,优良母树的后代,在相同立地条件和一致的经营管理下,在7年生时,材积生长比一般对照大“14—39％;种子园的后代则比对照大33—74％。然而,当半同胞子代在四个不同地点测定时,其树高生长比对照大6—22％。 7—13年生的杉木树高、胸径和材积的广义遗传力是按家系和单株估算的。单株树的树高和材积遗传力估值是0.2,而直径的遗传力估值为0.3。家系树高、胸径和材积遗传力估值是0.4。2—4年生时,全同胞家系树高狭义遗传力估值是0.3。 期望遗传效益是在各种不同选择强度下计算的(P_1=0.01;P_2=0.1,0.2和0.3;P_3=0.01,0.02和0.05)。对第一代无性系种子园在材积生产和其它生长性状方面的遗传效益进行预测。杉木各生长性状的遗传效益的估值如下:树高6.54一6.7.％,胸径19.12—19.68％,材积27.38—23.09％。然而,从第一代实生苗种子园在胸径生长方面预测的遗传效益值接近于20—26％。 第二代亲木的选择是在于代测定的材料中进行的。当假定把整个杉木育种方案的成木与期待增加的收益结合起来考虑时,其所得到的净收入值,证实了子代测定的实用价值。研究证明,每一公顷种子园的期待净收入元。     

26年生马尾松初级种子园半同胞子代变异及家系选择

【目的】研究马尾松全轮伐期半同胞家系的遗传变异并进行选择评价,为马尾松高世代遗传改良提供可靠依据。【方法】对南宁市林业科学研究所26年生马尾松初级种子园169个半同胞家系子代测定林进行长期定位观测,分析了树高、胸径和材积3个性状的方差分析、遗传力分析和家系选择。 【结果】家系间树高、胸径、材积存在极显著差异,表明马尾松初级无性系种子园的半同胞家系间存在丰富的变异,改良潜力较大; 分别有2.96%和5.33%的家系材积生长量低于古蓬种源和武鸣种源,表明建园优树无性系具有较好的基因型; 树高、胸径和材积的家系遗传力分别为0.555、0.466和0.423,属中等至高等遗传力; 3个性状的单株遗传力分别为0.219、0.128和0.111,属低等遗传力; 家系遗传力和单株遗传力均表现为树高>胸径>材积,即树高具有较强遗传力。【结论】以家系材积均值和材积变异系数作为选择指标进行马尾松优良家系选择,其中37、98、107、113和137号5个家系入选,可作为优良家系进行推广应用。     

Statistical issues and approaches in endophenotype research

The endophenotype concept was initially proposed to enhance the power of genetic studies of complex disorders. It is closely related to the genetic component in a liability-threshold model; a perfect endophenotype should have a correlation of 1 with the genetic component of the liability to disease. In reality, a putative endophenotype is unlikely to be a perfect representation of the genetic component of disease liability. The magnitude of the correlation between a putative endophenotype and the genetic co...     

社区老年人患病行为与家庭功能的相关性分析

探讨社区老年人患病行为与家庭功能的相关性。采用患病行为问卷（IBQ．62）和家庭关怀度量表（APGAR）对162例社区老年人进行调查,并用方差分析和Pearson相关进行分析。结果,家庭功能为良好、一般、障碍的老年人分别占39．5％、43-2％、17-3％。不同家庭功能老年人患病行为中的一般疑病（GH）、疾病信念（DC）、情感压抑（AI）、情感紊乱（AD）、易激惹性（I）因子分差异有统计学意义,Pearson相关分析显示,患病行为的上述5个因子得分与家庭功能各维度得分呈负相关。结果表明,社区老年群体存在一定的异常患病行为,家庭功能对其患病行为有影响作用,良好的家庭功能有助于老年人建立正常的患病行为。     

A family net of giant pandas in the Tangjiahe Natural Reserve： Assessment of current individual migration

In the present study, formalin-fixed feces, oligonucleotide fingerprinting and SRY-gene based sexing were used to construct a family net for giant pandas in the Tangjiahe Natural Reserve and to assess contemporary gene flow （migration） in this population. A total of 124 fecal samples were attributed to 37 individuals （22 females and 15 males） that were then analyzed for family relationships. Based on DNA fingerprints, the deduced family net revealed the following facts： （i） First-order relatives possessed similarities from 50% to 90%, and similarities between unrelated individuals or distant relatives were as high as 77%, indicating that the Tangjiahe pandas are characterized by high genetic similarity; （ii） 15 matings were identified and 5 ones occurred between close relatives, implying that there is potential for inbreeding to impact the pandas; （iii） four mating pairs and 5 offspring presented long distance migrations, demonstrating the intra-reserve habitat is continuous; （iv） four pairs of full sibs （also female-male dyads） dispersed short distance and all of them gave birth to highly inbred offspring, reflecting long distance migration is vital for inbreeding avoidance; （v） 17 adult individuals dispersed short or moderate distance and formed three clusters on the landscape, indicating that it is necessary to find out whether there is a negative factor impacting the pandas.     

马尾松子代测定及优良家系选择

以15 a生马尾松子代林为研究对象,通过调查51个家系及1个对照的树高、胸径、地径等生长性状,计算其家系遗传力、单株遗传力、变异系数等遗传参数.结果表明:不同家系间树高、胸径、材积等性状存在极显著差异;树高、胸径、材积变异系数分别为12.37%,27.55%和57.85%,优树子代性状生长表现较好,具有较大的遗传变异潜力;树高、胸径和材积的家系遗传力分别高达79.87%,65.23%和66.6%.以各性状平均值+1/4标准差为临界值,按材积、胸径、树高4∶3∶3进行综合评价,选择7个生长表现好的家系,其树高、胸径、材积平均值为11.08 m,14.45 cm和0.095 9 m3,分别比对照高6.6%,21.3%和37.8%,平均遗传增益分别为4.22%,7.84%和18.29%.     

Molecular evolution of FOXP2, a gene involved in speech and language

Language is a uniquely human trait likely to have been a prerequisite for the development of human culture. The ability to develop articulate speech relies on capabilities, such as fine control of the larynx and mouth, that are absent in chimpanzees and other great apes. FOXP2 is the first gene relevant to the human ability to develop language. A point mutation in FOXP2 co-segregates with a disorder in a family in which half of the members have severe articulation difficulties accompanied by linguistic and grammatical impairment. This gene is disrupted by translocation in an unrelated individual who has a similar disorder. Thus, two functional copies of FOXP2 seem to be required for acquisition of normal spoken language. We sequenced the complementary DNAs that encode the FOXP2 protein in the chimpanzee, gorilla, orang-utan, rhesus macaque and mouse, and compared them with the human cDNA. We also investigated intraspecific variation of the human FOXP2 gene. Here we show that human FOXP2 contains changes in amino-acid coding and a pattern of nucleotide polymorphism, which strongly suggest that this gene has been the target of selection during recent human evolution.     

德系安哥拉兔数量性状遗传参数估测

应用混合家系亲缘相关法、半同胞相关法分剐估测德系安哥拉兔五月龄剪毛各性状的遗传力、遗传相关,为德系兔的保种及进一步选育提供有关性状的遗传规律。结果表明:兔毛值数、剪毛量、剪毛后体重利用其遗传力高的特点可进行个体、表型选择;在主选兔毛值数时,以免毛值数的直接选择和同时利用剪毛后体重、体长、产毛率与其比较强的正遗传相关关系进行间接选择相结合,可望获得较大的选择进展。     

上海地区汉族人单胺氧化酶基因微卫星DNA多态性研究

应用扩增片段长度多态性技术,分析单胺氧化酶基因的ＭＡＯＡ（ＣＡ）。力ＭＡＯＢＩ（ＧＴ）ｎ２个基因座的微卫星ＤＮＡ多态性。在２４６名（男性１２２人,女性１２４人）无血缘关系上海地区汉族人中检出ＭＡＯＡ（ＣＡ）ｎ基因座８－种等位基因（１１０－１２４ｂｐ）和１９种基因型。     

基于抗逆力视角下的失独父母再社会化

抗逆力是社会工作实务领域的一个重要视角。失独父母面临失去孩子后的诸多不利状况，容易产生心理疾病和行为问题。结合当前我国失独家庭现状，从抗逆力视角关注失独父母再社会化，帮助他们走出失独阴影，重构社会关系网，重塑社会角色，重新融入正常的社会生活，安度晚年。