HLA-DRB基因多态性与发作性睡病  

Extensive HLA class II studies in Chinese narcoleptic patients

作　　者：肖毅[1] 黄席珍[1] 邱长春[2] 朱席琳[2] 刘怡文[2] 

机构地区：[1]中国医学科学院 [2]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

出　　处：《中华内科杂志》1999年第11期757-759,共3页Chinese Journal of Internal Medicine

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。Objective Narcolepsy is a debilitating, lifelong sleep disorder. Its familial occurrence suggests that genetic factors may be of importance in the etiology. Narcolepsy is a very rare disease among Chinese, thus it was of interest to study the association of narcolepsy with the HLA system in Chinese narcoleptic patients. Methods To explore the role of HLA DRB genes in the development of narcolepsy, we studied 10 narcoleptic patients and 50 race matched controls in whom HLA DR typing was perfomed by the method of DNA amplification with sequence specific primers (PCR SSP). Results All narcoleptic patients were found to be of DRB1*1501 and DRB5*0101 genotype. Conclusion These results indicate that HLA DRB1*1501 is a better primary candidate susceptibility gene for narcolepsy in Chinese.

关 键 词：HLA-DRB基因 多态性 嗜睡症 发作性睡病 

分 类 号：R749.7[医药卫生—神经病学与精神病学]