Tsuang M T, Stone W S, Faraone S V
Harvard Medical School Department of Psychiatry, Boston, Mass., USA.
Harv Rev Psychiatry. 1999 Nov-Dec;7(4):185-207.
Despite the complexities of schizophrenia, notable progress has been achieved in its diagnosis and treatment over the last 25 years. In this article we review the genetic research that provides the foundation for continued advances. One of the bases of our current understanding involves the observation that schizophrenia often runs in families. The development and utilization of stringent, reliable diagnostic criteria, together with the advent of modern family, twin, and adoption paradigms, demonstrate the importance of genetic factors in understanding the familial basis of the disorder. Refinements in diagnostic criteria have also enabled advances in understanding the likely mode--or modes--of genetic transmission of both schizophrenia and related disorders. After reviewing representative studies in these areas, we examine genetic linkage studies and our progress toward identifying the genes that cause schizophrenia. Although consistent results have been difficult to obtain and much work remains to be done, evidence for areas of vulnerability has been converging at particular chromosomal sites (e.g., 6p, 8p, and 22q), allowing for cautious optimism. Finally, we discuss challenges and prospects for the new millennium, including the clinical and ethical implications of genetic investigations.
尽管精神分裂症情况复杂,但在过去25年里其诊断和治疗已取得显著进展。在本文中,我们回顾了为持续进展奠定基础的基因研究。我们当前理解的基础之一是观察到精神分裂症往往具有家族聚集性。严格、可靠的诊断标准的发展与应用,以及现代家庭、双生子和收养模式的出现,证明了基因因素在理解该疾病家族基础方面的重要性。诊断标准的完善也推动了对精神分裂症及相关疾病可能的遗传传递模式的理解。在回顾这些领域的代表性研究后,我们审视基因连锁研究以及我们在确定导致精神分裂症的基因方面取得的进展。尽管难以获得一致的结果且仍有许多工作要做,但在特定染色体位点(如6p、8p和22q),易感性区域的证据正在汇聚,这让人谨慎乐观。最后,我们讨论新千年的挑战与前景,包括基因研究的临床和伦理意义。