title: Narcolepsy and HLA in the Japanese.
abstract: Narcolepsy is characterized by excessive daytime sleepiness and cataplexy. It had been reported that 100% of Japanese and Caucasian narcoleptic patients are HLA-DR2 and HLA-DQw1 positive; last year, however, exceptionally rare cases of DR2-negative narcolepsy were reported. Conversely, we tested 190 Japanese narcoleptic patients, and all were still DR2 and DQw1 positive. Among several symptoms in narcoleptic patients, HLA-DR2 showed the strongest association with cataplexy. Exclusive association has been demonstrated between narcolepsy and a specific band of EcoRI-digested DQ beta fragments. In this paper Taq I-digested genomic DNAs were hybridized with a DQ alpha probe, and five specific bands were observed to associate strongly with particular HLA-DR or D specificities. Interestingly, the 6.0-kb band was found in 100% of 28 narcoleptic patients and in 54% of DR2-positive normal control subjects. For the time being, HLA-Dw2 is the better marker of the HLA-associating narcoleptic gene than is DR2, DQw1, 2.4-kb band of EcoRI-digested DQ beta, and 6.0-kb band of Taq I digested DQ alpha, because the frequency of DW2 is the lowest in normal control subjects.
authors.affiliation: Blood Transfusion Service, Tokyo University Hospital, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Juji
authors.forename: K
authors.initials: K
authors.lastname: Matsuki
authors.forename: K
authors.initials: K
authors.lastname: Tokunaga
authors.forename: T
authors.initials: T
authors.lastname: Naohara
authors.forename: Y
authors.initials: Y
authors.lastname: Honda
mesh_terms: D015139:Blotting, Southern; D002385:Cataplexy / Q000235:genetics / Q000276:immunology; D003165:Complement System Proteins / Q000235:genetics; D005787:Gene Frequency; D006681:HLA-D Antigens / Q000235:genetics; D006684:HLA-DR Antigens / Q000235:genetics*; D006239:Haplotypes; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D007564:Japan / Q000208:ethnology; D009290:Narcolepsy / Q000235:genetics* / Q000276:immunology; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D006681:HLA-D Antigens; D006684:HLA-DR Antigens; D015395:Histocompatibility Antigens Class I; D003165:Complement System Proteins