NARCOLEPSY--HUMAN GENETICS AND HLA CORRELATES

嗜睡症是一种睡眠障碍，其特征是过度嗜睡和 这在一定程度上是由基因决定的。这一点从强者身上可见一斑 人类白细胞抗原II类基因(D和DR)与银屑病的相关性 发作性睡病的诊断，也从发作性睡病的频率增加 发作性睡病患者亲属的发作性睡病(1.2%)与 该疾病的人口比率(约为0.1%)。在以前的工作中， 我们还发现了这种强烈的人类白细胞抗原-DR2-发作性睡病的关联 证明了这种联系并没有扩展到最常见的 以过度嗜睡、睡眠呼吸暂停为特征的睡眠障碍。 然而，目前还不清楚嗜睡症是如何遗传的。具体目标 这个项目有两个方面： 1)确定了严格定义的遗传传播方式 发作性睡病，检测家庭聚集性，在适当的情况下， 确定睡眠相关症状的传播方式。特定的 感兴趣的症状是：过度困倦，睡眠时间短 多重睡眠潜伏期测试中的延迟，睡眠次数增加 多重睡眠潜伏期测试的起始REM睡眠周期缩短 夜间快速眼动睡眠潜伏期，出现发作性睡病症状 猝倒，催眠幻觉，睡眠质量差，支离破碎。 2)研究人类白细胞抗原DRw15(DR2)；DQw6(DQw1)单倍型在 嗜睡症。 3)探讨D基因中单个非II类基因 人类6号染色体短臂上的区域对于 发作性睡病的发展。

Narcolepsy is a sleep disorder characterized by excessive somnolence and is, in part, genetically determined. This is evident from the strong association observed between the HLA class II genes (D and DR) and the diagnosis of narcolepsy and also from the increased frequency of narcolepsy in relatives of narcoleptics (1.2%) compared with the population rate of the disorder (approximately 0.1%). In previous work, we have also found this strong HLA-DR2 - narcolepsy association and demonstrated that the association does not extend to the most common sleep disorder characterized by excessive somnolence, sleep apnea. However, it is not clear how narcolepsy is inherited. The specific aims of this project are two-fold: 1) determine the mode of genetic transmission of stringently defined narcolepsy, and test for familial aggregation and, where appropriate, determine the mode of transmission of sleep-related symptoms. Specific symptoms of interest are: excessive sleepiness with a short mean sleep latency on the Multiple Sleep Latency Test, increased number of sleep onset REM sleep periods on Multiple Sleep Latency Testing, shortened latency to nocturnal REM sleep, presence of narcoleptic symptoms of cataplexy, and hypnagogic hallucinations and poor, fragmented sleep. 2) examine the role of HLA, the DRw15(DR2); DQw6(DQw1) haplotype in narcolepsy. 3) to explore the hypothesis that a single non-class II gene in the D region on the short arm of human chromosome 6 is necessary for the development of narcolepsy.