Mignot E, Wang C, Rattazzi C, Gaiser C, Lovett M, Guilleminault C, Dement W C, Grumet F C
Sleep Disorders Research Center, Stanford University School of Medicine, Palo Alto, CA 94304.
Proc Natl Acad Sci U S A. 1991 Apr 15;88(8):3475-8. doi: 10.1073/pnas.88.8.3475.
Identification of genes determining narcolepsy susceptibility is important not only for understanding that disorder but also for possible clues to general sleep-control mechanisms. Studies in humans reveal at least one such gene related to the major histocompatibility complex and in dog an as-yet-unmapped single, autosomal recessive gene canarc-1. Gene markers for canarc-1 were therefore sought by DNA restriction fragment length polymorphisms in our colony of narcoleptic dogs. A human mu-switch immunoglobulin probe and the enzyme Hae III identified a gene cosegregating with canarc-1 in backcrossed animals (logarithm of odds scores: m = 24, Z max = 7.2 at theta = 0%). canarc-1 was also shown not to be tightly linked with the dog major histocompatibility complex (m = 40, Z less than -2 at theta less than 4.8%). These results represent the mapping of a non-major histocompatibility complex narcolepsy gene and strongly suggest involvement of the immune system in the pathophysiology of that disease.
确定决定发作性睡病易感性的基因不仅对于理解该疾病很重要,而且对于揭示一般睡眠控制机制的线索也可能具有重要意义。对人类的研究揭示了至少一个与主要组织相容性复合体相关的此类基因,而在犬类中,有一个尚未定位的单基因、常染色体隐性基因canarc-1。因此,我们在发作性睡病犬群中通过DNA限制性片段长度多态性来寻找canarc-1的基因标记。一个人类μ转换免疫球蛋白探针和Hae III酶在回交动物中鉴定出一个与canarc-1共分离的基因(优势对数分数:m = 24,在θ = 0%时Z最大值 = 7.2)。研究还表明,canarc-1与犬类主要组织相容性复合体没有紧密联系(m = 40,在θ < 4.8%时Z < -2)。这些结果代表了一个非主要组织相容性复合体发作性睡病基因的定位,并强烈提示免疫系统参与了该疾病的病理生理过程。