遗传学与社会

本文从界定易患体质和易感性入手,分析了遗传学研究的现状和对健康促进的作用,预测了遗传学在将来的应用,并探讨了健康、遗传基因和社会(外界大环境)三者的关系.     

Genetics of emotion

Emotion is critical to most aspects of human behavior, and individual differences in systems recruited to process emotional stimuli, expressed as variation in emotionality, are characteristic of several neuropsychiatric disorders. We examine the genetic origins of individual differences in emotion processing by focusing on functional variants at five genes: catechol-O-methyltransferase (COMT), serotonin transporter (SLC6A4), neuropeptide Y (NPY), a glucocorticoid receptor-regulating co-chaperone of stress proteins (FKBP5) and pituitary adenylate cyclase-activating polypeptide receptor (ADCYAP1R1). These represent a range of effects of genes on emotion as well as the variety of mechanisms and factors, such as stress, that modify these effects. The new genomic era of genome-wide association studies (GWAS) and deep sequencing may yield a wealth of new loci modulating emotion. The effects of these genes can be validated by neuroimaging, neuroendocrine and other studies accessing intermediate phenotypes, deepening our understanding of mechanisms of emotion and variation in emotionality.     

Genetics and delusional disorder

This article gives an overview of genetic research approaches and their application to delusional disorder. Most studies have been based on small samples and have had other methodological limitations, so it is not clear whether there is a genetic contribution to the aetiology of delusional disorder. It is unlikely that delusional disorder is strongly related genetically to affective disorder or schizophrenia, but more subtle relationships cannot be ruled out. The rarity of multiply affected families prohibits linkage studies and, to date, molecular genetic investigations have been mainly limited to small association studies of dopamine receptor polymorphisms. A range of considerably larger, epidemiologically rigorous studies is required, but the uncommonness and other features of the disorder put strong limitations on the prospects for ascertaining adequate samples.     

Genetics and educational psychology

Background: Molecular genetics, one of the most energetic and exciting areas of science, is slowly but surely coming to educational psychology. Aims: We review recent molecular genetic research on learning disabilities as a sign of things to come in educational psychology. We also consider some misconceptions about genetics that have slowed the acceptance of genetics in educational psychology. Samples: Diverse samples of children with learning disabilities have been studied, primarily in the UK and the USA. Methods: Linkage analysis can detect genes that have large effects on learning disabilities. Association analysis can detect genes of much smaller effect size, which is important because common disorders such as learning disabilities are likely to be influenced by many genes as well as by many environmental factors. Results: For reading disability, replicated linkages have been identified on chromosomes 6, 15 and 18. A gene responsible for a rare type of language impairment has recently been identified. For common language impairment, linkages on chromosomes 16 and 19 have recently been reported. More than 200 genetic disorders, most extremely rare, include mental retardation among their symptoms, and chromosomal abnormalities are a major cause of mental retardation. Conclusions: Although finding specific genes associated with learning disabilities is unlikely to have much of a direct application for teachers in the classroom, such findings will have far‐reaching implications for diagnosis, treatment and prevention of learning disabilities and for research in educational psychology. Educational psychology has been slower to accept evidence for the importance of genetics than other areas of psychology in part because of misconceptions about what it means to say that genetics is important for common complex disorders such as learning disabilities.     

Genetics and criminal responsibility

Some believe that genetics threatens privacy and autonomy and will eviscerate the concept of human nature. Despite the astonishing research advances, however, none of these dire predictions and no radical transformation of the law have occurred. Advocates have tried to use genetic evidence to affect judgments of criminal responsibility. At present, however genetic research can provide little aid to assessments of criminal responsibility and it does not suggest a radical critique of responsibility.     

代谢综合征与遗传

代谢综合征是指一组与糖尿病和心血管疾病发病风险增加相关联的症候群。不同学术组织对于代谢综合征的定义有所不同,但其基本要素主要包括胰岛素抵抗、异常葡萄糖代谢、高血压、致动脉粥样硬化的脂代谢紊乱、肥胖等。家系研究以及双生子研究显示遗传因素在代谢综合征中各个组分中都扮演着不同程度的重要角色。在代谢综合征患者中有一部分是由于单基因突变所导致的特殊类型的代谢综合征,这些患者的共同特点包括脂质萎缩以及严重的胰岛素抵抗等。导致这些特殊类型代谢综合征发生的单基因突变包括AKT2R274H,PPARs家族的PPARγF388L基因突变、PPARγArg397Cys基因突变、PPARγP467L与PPARγV290M基因突变,核纤层蛋白A／C基因的lamin A G602S突变、LMNA R482W突变等。此外,由于对代谢综合征的定义和理解不同,在代谢综合征的遗传学研究中造成了很大困难。     

Medical Genetics and Genetic Counseling in Chile

In the South American Republic of Chile genetic counseling is not currently recognized as an independent clinical discipline, and in general is provided by physicians with training in clinical genetics. At present only one genetic counselor and 28 clinical geneticists practice in this country of over 16 million inhabitants. Pediatric dysmorphology constitutes the primary area of practice in clinical genetics. Although the country has a universal health care system and an adequate level of health care, genetic conditions are not considered a health care priority and there is a lack of clinical and laboratory resources designated for clinical genetics services. Multiple educational, cultural and financial barriers exist to the growth and development of genetic counseling services in Chile. However, during the last 10 years increased awareness of the importance of identifying individuals at risk for inherited cancer syndromes led to growing interest in the practice of cancer genetics.     

NCCN成人临床癌痛指南中心理问题、精神症状和精神用药的解读

疼痛的体验是主观的,疼痛与痛苦相伴而行。NCCN成人癌痛指南对癌痛的评估和治疗中涉及大量的心理问题与干预、精神症状评估和精神药物应用,本文力求对这方面进行解读,以揭示癌痛治疗中对人的尊重和对“总疼痛”的理解。     

The Concept of Abnormality in Medical Genetics

This paper explores usage of the concept ofabnormality in medical genetics and proposesdirectives for more careful usage of this concept.The conceptual difficulties are first explored, thena model is developed to assess actual usage, followedby analysis of a sample of genetic textbooks andgenetics literature. It appears that fact andvaluation are often intermingled, that referencestandards used to define 'genetic abnormalities' areoften not clear and that the concept of abnormality isoften used independent of the degree of certainty withwhich the altered genetype develops into a (seriously)harmful phenotype. On the basis of these findings itis argued that more restraint and more careful use ofthe concept of genetic abnormality of medical geneticsis appropriate as well as more agreement on the use ofreference standards.     

Engaging Nurses in Genetics: The Strategic Approach of the NHS National Genetics Education and Development Centre

The UK government announced the establishment of an NHS National Genetics Education and Development Centre in its Genetics White Paper. The Centre aims to lead and coordinate developments to enhance genetics literacy of health professionals. The nursing program takes a strategic approach based on Ajzen’s Theory of Planned Behavior, using the UK nursing genetics competences as the platform for development. The program team uses innovative approaches to raise awareness of the relevance of genetics, working collaboratively with policy stakeholders, as key agents of change in promoting competence. Providing practical help in preparing learning and teaching resources lends further encouragement. Evaluation of the program is dependent on gathering baseline data, and the program has been informed by an education needs analysis. The challenges faced are substantial and necessitate international collaboration where expertise and resources can be shared to produce a global system of influence to facilitate the engagement of non-genetic nurses.     

Genetics of posttraumatic stress disorder

Posttraumatic stress disorder (PTSD) is a prevalent anxiety disorder marked by behavioral, physiologic, and hormonal alterations. PTSD is disabling and commonly follows a chronic course. The etiology of PTSD is unknown, although exposure to a traumatic event constitutes a necessary, but not sufficient, factor. A twin study of Vietnam veterans has shown significant genetic contribution to PTSD. The fact that PTSD's underlying genotypic vulnerability is only expressed following trauma exposure limits the usefulness of family-based linkage approaches. In contrast to the other major psychiatric disorders, large studies for the search of underlying genes have not been described in PTSD to date. Complementary approaches for locating involved genes include association-based studies employing case-control or parental genotypes for transmission dysequilibrium analysis and quantitative trait loci studies in animal models. Identification of susceptibility genes will increase our understanding of traumatic stress disorders and help to elucidate their molecular basis. The current review provides an up-to-date outline of progress in the field of PTSD.     

The Behavioral Genetics of Religiousness

Behavioral geneticists have sought to characterize the genetic and environmental contributions to individual differences in religiousness. Behavioral genetic methodology is described and twin and adoption studies of religiousness are reviewed. It is concluded that familial resemblance for religiousness is due largely to shared environmental factors in childhood and adolescence, but to genetic factors in adulthood. Additional evidence shows that there is a genetic correlation between religiousness and antisocial and altruistic behavior. Claims for the discovery of a “God gene” are premature and unlikely, as any genetic influence is likely to represent the aggregate effect of many genetic factors.