CAJ | 학술논문

精神疾病在很大程度上受到遗传的影响，而对疾病的遗传学研究却没有得到一致的结论，内表型正是在这一背景下提出。内表型是可以通过生化测试或显微镜检查发现的内在的表现型，即内表型不是很明显的、外在的而是微观的、内在的，内表型比疾病的外在表现更接近疾病的生物学基础，更少受到外在因素的影响，因而通过内表型来研究疾病的遗传基因有着显著的优势。现有的精神疾病诊断和分类标准都是以临床症状和行为描述为基础的，缺少生物学基础，基于内表型的分析对建立疾病的诊断和分类的生物学基础是非常重要的。内表型可以是神经生理的，生物化学的，神经解剖的，认知的，神经心理学的测量。作为内表型需要满足与疾病共同存在，可遗传，状态独立，在家庭中和疾病共分离，在病人未发病亲属中比一般人群的比率要高等标准。该丈在介绍了内表型的概念，说明了内表型的原理，优点与用处，以及作为内表型需要满足的标准之后，进而以几种常见的精神疾病（多动症、精神分裂症、抑郁症）为例说明了目前认知内表型研究的进展，其中反应抑制和工作记忆可以作为多动症的内表型，注意、言语记忆和工作记忆可以作为精神分裂症和抑郁症的内表型，文章回顾了它们作为内表型所满足的标准的相关文献。最后对内表型的研究做出了展望。
정신질병재흔대정도상수도유전적영향，이대질병적유전학연구각몰유득도일치적결론，내표형정시재저일배경하제출。내표형시가이통과생화측시혹현미경검사발현적내재적표현형，즉내표형불시흔명현적、외재적이시미관적、내재적，내표형비질병적외재표현경접근질병적생물학기출，경소수도외재인소적영향，인이통과내표형래연구질병적유전기인유착현저적우세。현유적정신질병진단화분류표준도시이림상증상화행위묘술위기출적，결소생물학기출，기우내표형적분석대건립질병적진단화분류적생물학기출시비상중요적。내표형가이시신경생리적，생물화학적，신경해부적，인지적，신경심이학적측량。작위내표형수요만족여질병공동존재，가유전，상태독립，재가정중화질병공분리，재병인미발병친속중비일반인군적비솔요고등표준。해장재개소료내표형적개념，설명료내표형적원리，우점여용처，이급작위내표형수요만족적표준지후，진이이궤충상견적정신질병（다동증、정신분렬증、억욱증）위례설명료목전인지내표형연구적진전，기중반응억제화공작기억가이작위다동증적내표형，주의、언어기억화공작기억가이작위정신분렬증화억욱증적내표형，문장회고료타문작위내표형소만족적표준적상관문헌。최후대내표형적연구주출료전망。
The identification of genes that contribute to a susceptibility to psychiatric disorders has been elusive using conventional genetic approaches. One problem to gone finding is that we cannot identify carriers of genes in the absence of manifest symptoms. Also, psychiatric diagnoses are likely to be heterogeneous in that not all people with the same diagnosis carry the same susceptibility genes. A new direction that appears encouraging is the identification of neurobiological or neurobehavioral characteristics associated with schizophrenia, or endophenotypes, that may be more closely linked to gone expression. Endophenotypes are internal phenotypes discovered by a ＂biochemical test or microscopic examination＂, they are not the obvious and external but the microscopic and internal, endophenotypes are more approach the biological basis than the external manifestations, less affected by other factors, so it has obvious advantages in studying the genetics of psychiatric disease. And the present diagnostic and classification systems are based on clinical manifestations and behavioral descriptions, lack of biological basis, the endophenotype approach is of great importance in establishing the neurobiological basis of diagnostic and classification systems. Endophenotypes can be neurophysiologic, biochemical, neuroanatomical, cognitive, and neuropsychological measures. To be an endophenotype, it must fulfill some criteria： associate with the disease, heritable, stable or state-independent, cosegragate in the family, endophenotypes should have a higher rate in nonpsychotic relatives than in general population. The paper introduced the concept of endophenotype, illustrated its rational, advantages and usefulness, and the criteria that must be fulfilled, then take three common psychiatric diseases as examples to demonstrate the research development of endophenotypes, e.g., response inhibition and working memory as endophenotypes of attention deficit/hyperactivity disorder, attention, verbal memory and working memory as endophenotypes of schizophrenia and depression. At last, it points out the future directions of endephenotype research.