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[从三核苷酸重复扩增疾病看分子精神病学问题]

[Problem of molecular psychiatry in view of the trinucleotide repeat expansion disease].

作者信息

Ohara K

机构信息

Department of Psychiatry, Hamamatsu University School of Medicine.

出版信息

Nihon Rinsho. 1999 Apr;57(4):792-5.

Abstract

Recent findings of trinucleotide repeat expansion diseases (TNED) have suggested that some familial psychiatric diseases may be caused by the same molecular mechanisms. Anticipation and imprinting phenomena have been shown to be present in families with schizophrenia. Studies by means of the Repeat Expansion Detection (RED) showed the frequencies of the expanded CAG repeat in schizophrenia was larger than those in normal control subjects. However, there are several problems; anticipation may be caused by not only TNED but also by unknown mechanisms and biases; RED method cannot detect the specific TNE, and TNE which was unrelated to a disease was found.

摘要

三核苷酸重复扩增疾病(TNED)的最新研究结果表明,一些家族性精神疾病可能由相同的分子机制引起。在精神分裂症家族中已证实存在遗传早现和印记现象。通过重复序列扩增检测(RED)进行的研究表明,精神分裂症患者中CAG重复序列扩增的频率高于正常对照受试者。然而,存在几个问题:遗传早现可能不仅由TNED引起,还可能由未知机制和偏差导致;RED方法无法检测到特定的三核苷酸重复扩增(TNE),并且发现了与疾病无关的TNE。

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