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[动态DNA突变、遗传早现与精神分裂症]

[Dynamic DNA mutations, anticipation and schizophrenia].

作者信息

Thibaut F, Campion D, Laurent C, Bonnet-Brilhault F, Petit M

机构信息

Groupe de recherche sur la schizophrénie, Université de Rouen, Service hospitalo-universitaire, Sotteville-lès-Rouen.

出版信息

Encephale. 1997 Jan-Feb;23(1):22-7.

PMID:9172964
Abstract

Recently, a new form of human mutation-expansion of trinucleotide repeats-has been found to cause fragile X syndrome, Huntington's disease and other neurodegenerative diseases. These diseases are characterized by unusual patterns of inheritance, in particular, genetic anticipation in which the severity of the disorder increases and the age at onset decreases in successive generations of a pedigree. This phenomenon, formerly ascribed to observation biases, correlates with the expansion of trinucleotide repeat sequences. Two recent studies indicate that anticipation is present in familial schizophrenia. These findings support both an active search for unstable trinucleotide repeat sequences in schizophrenia and reconsideration of the genetic models used in this disorder.

摘要

最近,人们发现一种新的人类突变形式——三核苷酸重复序列扩增——可导致脆性X综合征、亨廷顿舞蹈症和其他神经退行性疾病。这些疾病具有不同寻常的遗传模式,尤其是遗传早现现象,即某一家系中,该疾病的严重程度逐代加重,发病年龄逐代降低。这一现象以前被归因于观察偏差,而现在发现它与三核苷酸重复序列的扩增有关。最近的两项研究表明,家族性精神分裂症中也存在遗传早现现象。这些发现既支持了在精神分裂症中积极寻找不稳定三核苷酸重复序列的研究,也支持了对该疾病所使用遗传模型的重新思考。

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