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发作性睡病中肿瘤坏死因子-α基因的突变研究。

A search for a mutation in the tumour necrosis factor-alpha gene in narcolepsy.

作者信息

Kato T, Honda M, Kuwata S, Juji T, Fukuda M, Honda Y, Kato N

机构信息

Department of Neuropsychiatry, Faculty of Medicine, University of Tokyo, Japan.

出版信息

Psychiatry Clin Neurosci. 1999 Jun;53(3):421-3. doi: 10.1046/j.1440-1819.1999.00568.x.

Abstract

The discovery of almost 100% association of narcolepsy with human leukocyte antigens (HLA) DR2 antigen prompted molecular biological research of this disorder. In the HLA class II gene cluster, the gene for tumour necrosis factor-alpha (TNF-alpha), which plays a role in the regulation of normal human sleep, is located. The present study searched for a mutation in the TNF-alpha gene by single-strand conformation polymorphism analysis (SSCP) in patients with narcolepsy. No mutation was detected in exons and introns of the TNF-alpha gene by SSCP and sequencing.

摘要

发作性睡病与人类白细胞抗原(HLA)DR2抗原几乎100%相关的发现促使了对该疾病的分子生物学研究。在HLA II类基因簇中,存在着在正常人类睡眠调节中起作用的肿瘤坏死因子-α(TNF-α)基因。本研究通过单链构象多态性分析(SSCP)在发作性睡病患者中寻找TNF-α基因的突变。通过SSCP和测序在TNF-α基因的外显子和内含子中未检测到突变。

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