title: Use of PCR with sequence-specific primers for high-resolution human leukocyte antigen typing of patients with narcolepsy.
abstract: BACKGROUND
  Narcolepsy is a neurologic disorder characterized by excessive daytime sleepiness, symptoms of abnormal rapid eye movement (REM) sleep, and a strong association with HLA-DRB1*1501, -DQA1*0102, and -DQB1*0602. 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 DRB1*15/16, DQA1, and DQB1 alleles.
  
  
  METHODS
  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).
  
  
  RESULTS
  The 44 narcolepsy patients with cataplexy displayed significantly higher frequencies of DRB1*1501 (Pc= 0.003), DQA1*0102 (Pc=0.001), and DQB1*0602 (Pc=0.014) than the patients without cataplexy. Among patients carrying DRB1*1501-DQB1*0602 or DQA1*0102, 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.
  
  
  CONCLUSIONS
  The clinical characteristics and somnographic findings of narcolepsy patients were associated with specific HLA alleles, including DRB1*1501, DQA1*0102, and DQB1*0602. Application of high-resolution PCR-SSP, a reliable and simple method, for both allele- and locus-specific HLA typing of DRB1*15/16, DQA1, and DQB1 would be useful for characterizing clinical status among subjects with narcolepsy.
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Hye In
authors.initials: HI
authors.lastname: Woo
authors.forename: Eun Yeon
authors.initials: EY
authors.lastname: Joo
authors.forename: Seung Bong
authors.initials: SB
authors.lastname: Hong
authors.forename: Kyung Wha
authors.initials: KW
authors.lastname: Lee
authors.forename: Eun-Suk
authors.initials: ES
authors.lastname: Kang
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D002385:Cataplexy / Q000235:genetics; D015343:DNA Probes, HLA; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006683:HLA-DQ Antigens / Q000235:genetics; D059811:HLA-DRB1 Chains / Q000235:genetics; D006650:Histocompatibility Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009290:Narcolepsy / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype; D016133:Polymerase Chain Reaction
chemical_list: D015343:DNA Probes, HLA; D006683:HLA-DQ Antigens; D059811:HLA-DRB1 Chains