发作性睡病患者的人类白细胞抗原易感基因研究  

HLA-DRB and- DQB allele contribution to narcolepsy susceptibility in Chinese patients with narcolepsy

作　　者：韩芳[1] 陈尔璋[1] 魏海琳[1] 董霄松[1] 李静[1] 李玫[1] 何权瀛[1] 丁东杰[1] 

机构地区：[1]北京大学人民医院呼吸科,100044

出　　处：《中华医学杂志》2003年第8期644-646,共3页National Medical Journal of China

摘　　要：目的　探讨人类白细胞抗原 (HLA)Ⅱ抗原基因在发作性睡病患者发病中的作用。方法　 31例患者经系统的病史询问、查体及头颅CT ,MRI检查排除了神经系统的其他疾患。均经多次小睡潜伏时间试验 (MSLT)测试及应用血清学方法进行HLADR2 测定 ;2 1例经特异性引物体外基因扩增 (PCR SSP)方法测定HLADR及HLADQ基因型。结果　 31例患者均符合发作性睡病的诊断。均有嗜睡、发作性猝倒 ,14例诉睡瘫 ,19例有入睡幻觉。MSLT试验示平均睡眠潜伏期为 2 1min± 1 3min ( 0 5～ 6min)。在 5次小睡中 ,30例患者出现异常的快动眼 (REM)睡眠 ,且均大于 2次 ,平均为4 2次± 1次 ( 2～ 5次 ) ,异常REM睡眠的潜伏期为 4 0min± 1 8min ( 0 8～ 7 9min)。在 31例患者中 ,HLADR2 阳性率为 96 8%( 30 / 31)。PCR SSP测定发现 2 0例HLADR2 阳性患者的亚型均为HLADRB 15 ,大部分是HLADRB1 15 0 1,但有 2例为HLADRB1 15 0 2。HLADQB1 0 6 0 2的阳性率为86 %( 18/ 2 1)。结论　HLADR2 及HLADQw6是发作性睡病的可能易感基因 ,但不同于文献报道东方人发作性睡病HLADR2 HLADQw6 10 0 %阳性的报道。Objectives To study the association of narcolepsy with HLA class Ⅱ alleles in Chinese narcoleptic patients. Methods 31 patients with narcolepsy underwent brain computed tomography (CT) scan and magnetic resonance imaging (MRI) testing. All patients received a MSLT test following a routine night′s sleep, and serological HLA typing for HLA DR 2. 21 patients received PCR-SSP HLA DR and DQ typing. Results All patients had sleepiness and cataplexy. There was no evidence for other functional or structural diseases. Sleep paralysis was elicited in 45%; hypnagogic hallucinations, in 61%. Mean sleep latency on MSLT was 2.1 min±1.3 min; sleep-onset rapid eye movement (SOREM) occurred during 2/5 naps in 30 of 31 patients. The average number and latency of SOREM episodes were 4.2±1.0 episodes and 4.0 min±1.8 min, respectively. All patients but one were HLA DR 2 positive and 86% were HLADRB 1*1501-HLADQB 1*0602 positive. Conclusions HLA DR 2 and HLADQw6 are markers for narcolepsy-cataplexy in Chinese.

关 键 词：发作性睡病 易感基因 人白细胞组织相容性抗原 发作性猝倒 

分 类 号：R596[医药卫生—内科学]