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Recent Progress in Molecular Genetic Study of Schizophrenia

精神分裂症分子遺傳研究之近期發展

摘要


精神分症是一種嚴重的、慢性退化性精神疾病,其終生盛行率約為百分之一,患者從青少年或青年期開始發病,不僅造成個人的不幸、同時也造成家人與國家社會重大的負擔。因此找出確切的病因、了解病理機制與發展有效的治療方法,實為當務之急。目前精神分裂症的病因尚不得而知,只是知道這是一種常見的複雜性疾病。過去精神分裂症的家族研究、雙胞胎研究,發現遺傳因子是精神分裂症的重要病因之一,其遺傳比率約佔百分之五十到八十。然而經過多年的研究,精神分裂症的遺傳模式莫衷一是,其致病基因尚未被發現,且致病機制也尚未釐清,研究學者一般認為精神分裂病的致病基因應屬多重基因。本文就目前精神分裂症的遺傳研究做一回顧,尤其近幾年來分子遺傳學的研究突飛猛進,我在本文中介紹幾種研究人員正在使用的方法,說明這些方法的適用範圍與限制,同時報告使用這些方法所得到的一些成果。經過多年的努力,精神分裂症的致病基因仍然未被發現,顯示其複雜性可能超過預期,或是有可能有新的致病機轉,還未被發現。

並列摘要


Schizophrenia is a severe, devastating chronic mental illness that affects approximately 1% of the general population worldwide. Family, twin and adoption studies have revealed that schizophrenia is a complex disease with a high genetic component in its etiology. The heritability of schizophrenia ranged from 50% to 80% in different studies. Since the etiology of schizophrenia is still obscure, it is essential to identify the gene or genes that cause schizophrenia, better understand the pathogenesis of schizophrenia and develop better treatment. In this review, I will present some strategies that are currently used by researchers who are attempting to pin down schizophrenic genes. Despite decades of intensive effort, schizophrenic genes are still elusive. Some of the drawbacks and pitfalls of these methodologies will also be discussed. With the remarkable progress of molecular genetics, we still optimistically believe that the genes for schizophrenia will eventually be identified, and the mystery of schizophrenia will be resolved in the near future. By that time, we will have a scientific basis to diagnose schizophrenic patients, develop better treatment for patients and prevent schizophrenia.

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