Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Ann Lab Med. 2012 Jan;32(1):57-65. doi: 10.3343/alm.2012.32.1.57. Epub 2011 Dec 20.
Narcolepsy is a neurologic disorder characterized by excessive daytime sleepiness, symptoms of abnormal rapid eye movement (REM) sleep, and a strong association with HLA-DRB11501, -DQA10102, and -DQB10602. Here, we investigated the clinico-physical characteristics of Korean patients with narcolepsy, their HLA types, and the clinical utility of high-resolution PCR with sequence-specific primers (PCR-SSP) as a simple typing method for identifying DRB115/16, DQA1, and DQB1 alleles.
The study population consisted of 67 consecutively enrolled patients having unexplained daytime sleepiness and diagnosed narcolepsy based on clinical and neurological findings. Clinical data and the results of the multiple sleep latency test and polysomnography were reviewed, and HLA typing was performed using both high-resolution PCR-SSP and sequence-based typing (SBT).
The 44 narcolepsy patients with cataplexy displayed significantly higher frequencies of DRB11501 (Pc= 0.003), DQA10102 (Pc=0.001), and DQB10602 (Pc=0.014) than the patients without cataplexy. Among patients carrying DRB11501-DQB10602 or DQA10102, the frequencies of a mean REM sleep latency of less than 20 min in nocturnal polysomnography and clinical findings, including sleep paralysis and hypnagogic hallucination were significantly higher. SBT and PCR-SSP showed 100% concordance for high-resolution typing of DRB1*15/16 alleles and DQA1 and DQB1 loci.
The clinical characteristics and somnographic findings of narcolepsy patients were associated with specific HLA alleles, including DRB11501, DQA10102, and DQB10602. Application of high-resolution PCR-SSP, a reliable and simple method, for both allele- and locus-specific HLA typing of DRB115/16, DQA1, and DQB1 would be useful for characterizing clinical status among subjects with narcolepsy.
发作性睡病是一种以日间过度嗜睡、异常快速眼动（REM）睡眠症状以及与 HLA-DRB11501、-DQA10102 和 -DQB10602 强关联为特征的神经疾病。在此，我们研究了韩国发作性睡病患者的临床-生理特征、他们的 HLA 类型，以及高分辨率聚合酶链反应与序列特异性引物（PCR-SSP）作为一种简单的 DRB115/16、DQA1 和 DQB1 等位基因鉴定方法的临床实用性。
研究人群由 67 例连续入组的以不明原因日间嗜睡且基于临床和神经学发现诊断为发作性睡病的患者组成。回顾了临床数据和多次睡眠潜伏期试验和多导睡眠图的结果，并使用高分辨率 PCR-SSP 和序列基序分型（SBT）进行 HLA 分型。
44 例有猝倒的发作性睡病患者携带 DRB11501（Pc=0.003）、DQA10102（Pc=0.001）和 DQB10602（Pc=0.014）的频率显著高于无猝倒的患者。在携带 DRB11501-DQB10602 或 DQA10102 的患者中，夜间多导睡眠图 REM 睡眠潜伏期小于 20 分钟和包括睡眠瘫痪和催眠幻觉在内的临床发现的频率显著更高。SBT 和 PCR-SSP 对 DRB1*15/16 等位基因和 DQA1 和 DQB1 位点的高分辨率分型显示出 100%的一致性。
发作性睡病患者的临床特征和睡眠图发现与特定的 HLA 等位基因有关，包括 DRB11501、DQA10102 和 DQB10602。高分辨率 PCR-SSP 作为一种可靠且简单的方法，用于 DRB115/16、DQA1 和 DQB1 的等位基因和基因座特异性 HLA 分型，对于描述发作性睡病患者的临床状况将是有用的。
