肖毅 黄席珍 邱长春 朱席琳 刘怡文 肖毅、黄席珍 100730 中国医学科学院、中国协和医科大学 北京协和医院呼吸科；邱长春、朱席琳、刘怡文 中国医学科学院基础医学研究所医学分子生物学国家重点实验室 中华内科杂志 1999 0 38 11


    关键词：HLA-DRB基因；多态性；嗜睡症；发作性睡病 期刊 zhnkzz 0 论著 fur -->


    

【摘要 】 目的 探讨人类白细胞抗原(HLA)-DRB等位基因在发作性睡病发病中的作用。方法 对10例发作性睡病患者和50例正常对照的HLA-DRB等位基因进行分型，用序列特异性引物体外基因扩增法分析HLA-DRB特异性。结果 根据临床表现和多次小睡潜伏时间试验诊断的发作性睡病患者其HLA-DRB1*1501和HLA-DRB5*0101均阳性；而在正常对照组，其等位基因频率分别为17%和44%，两者差异具显著性。结论 HLA-DRB1*1501是发作性睡病患者的易感基因之一。

Extensive HLA class IIstudies in Chinese narcoleptic patients

XIAOYi, HUANG Xizhen, QIU Changchun, et al.

    Department of Respiratory Diseases, Peking Union Medical

    College Hospital, Chinese Academy of Medical Sciences, Beijing 100730

【Abstract】 Objective Narcolepsy is a debilitating, lifelong sleep disorder. Its familialoccurrence suggests that genetic factors may be of importance in the etiology. Narcolepsyis a very rare disease among Chinese, thus it was of interest to study the association ofnarcolepsy with the HLA system in Chinese narcoleptic patients. Methods To explore the role of HLA-DRBgenes in the development of narcolepsy, we studied 10 narcoleptic patients and 50 racematched controls in whom HLA-DR typing was perfomed by the method of DNA amplificationwith sequence-specific primers (PCR-SSP). Results All narcoleptic patients were found to be of DRB1 ^. 1501 andDRB5 ^. 0101 genotype. Conclusion These results indicate that HLA-DRB1 ^. 1501 is abetter primary candidate susceptibility gene for narcolepsy in Chinese.

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