NARCOLEPSY--GENETICS AND HLA CORRELATES

嗜睡症是一种睡眠障碍，其特征是过度嗜睡， 是由基因决定的 这从强者身上可见一斑 在HLA II类基因（D和DR）与 发作性睡病的诊断，也从增加的频率， 发作性睡病患者亲属中的发作性睡病（1.2%）与 人口发病率（约0.1%）。 在以前的工作中， 我们还发现了这种强烈的HLA-DR 2与嗜睡症的关联， 证明了这种关联并没有延伸到最常见的 以过度嗜睡、睡眠呼吸暂停为特征的睡眠障碍。 然而，尚不清楚嗜睡症是如何遗传的。 具体目标 该项目的目标有两个方面： 1)确定严格定义的遗传传播模式 发作性睡病和家族聚集性试验，适当时， 确定睡眠相关症状的传播方式。 具体 感兴趣的症状是：过度嗜睡，平均睡眠时间短 多次睡眠延迟测试的延迟，睡眠次数增加 多次睡眠潜伏期测试中的快速眼动睡眠期开始缩短 夜间快速眼动睡眠的潜伏期， 昏迷、临睡前幻觉和不完整的睡眠。 2)检查HLA的作用，DRw 15（DR 2）; DQw 6（DQw 1）单倍型， 嗜睡症 3)探讨D细胞中单个非II类基因 人类6号染色体短臂上的一个区域对于 嗜睡症的发展。

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.