The Genetics of Schizophrenia
The Genetics of Schizophrenia
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DOI：
10.1007/978-4-431-67897-7_44
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发表时间：
2001
期刊：
影响因子：
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通讯作者：
D. Dikeos
中科院分区：
文献类型：
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作者：
D. Dikeos
根据家庭、双胞胎和收养研究的结果，遗传成为精神分裂症发病机制的主要病因。分子遗传学技术（主要是遗传关联和连锁研究）表明，13号染色体上的13q32区域以及可能的6p24-22、6q16-24、8p和22q11-13区域以及5 -羟色胺2A受体基因可能与精神分裂症的发病机制有关。然而，到目前为止，还没有发现主要的基因；这主要是因为假定的疾病异质性、多基因遗传、基因型外显率降低以及遗传和环境易感性因素之间的相互作用。基因同质的患者亚群和外显率降低的基因携带者的鉴定是基于“软”神经学症状；听觉门控和眼球平顺运动障碍；神经解剖学的异常;脑区域血流异常模式、功能性MRI和脑侧化；神经递质异常生化指标。分子遗传学与神经精神病学其他领域的整合可以为我们理解导致精神分裂症的各种遗传和环境机制之间的相互作用提供新的进展，并允许实施准确的遗传咨询和更适当的干预措施，以预防和管理这种毁灭性疾病。
On the basis of findings from family, twin, and adoption studies, heredity emerges as a major etiological factor in the pathogenesis of schizophrenia. Molecular genetic techniques (mainly genetic association and linkage studies) indicate that area 13q32 on chromosome 13 and, possibly, areas 6p24–22, 6q16–24, 8p, and 22q11–13, as well as the gene of serotonin 2A receptor, may be implicated in the pathogenesis of schizophrenia. As yet, however, no major genes have been identified; this is mainly because of the assumed heterogeneity of the disease, multigenic inheritance, reduced penetrance of genotype(s), and interplay between genetic and environmental vulnerability factors. Identification of genetically homogeneous patient subgroups and carriers of genes with reduced penetrance is based on “soft” neurological signs; deficits in auditory sensory gating and smooth pursuit eye movements; neuroanatomical abnormalities; deviant patterns of cerebral regional blood flow, functional MRI and brain lateralization; and biochemical indices of neurotransmitter abnormalities. The integration of molecular genetics with other fields of neuropsychiatry could provide new advances in our understanding of the interactions among the various genetic and environmental mechanisms leading to schizophrenia and allow the implementation of accurate genetic counseling and more appropriate interventions for the prevention and management of this devastating disease.