DQB1-0602 (DQw1) is not present in most nonDR2 Caucasian narcoleptics

Sleep. 1992 Oct;15(5):415-22. doi: 10.1093/sleep/15.5.415.

Abstract

Human narcolepsy is a genetically determined disorder of sleep strongly associated with the human leucocyte antigens (HLA) DR2 and DQw1. In black narcoleptic patients, susceptibility for narcolepsy is more closely related to a specific gene subtype of DQw1, DQB1-0602, than to DR2. About 30% of black narcoleptic patients are nonDR2, but all carry the HLA DQB1-0602 gene. In the present study, we have tested caucasian nonDR2 cataplectic patients (6 sporadic cases and 7 familial cases from 3 multiplex families) for the presence of the HLA DQB1-0602 and DQA1-0102 (DQw1) using a specific polymerase chain reaction (PCR)-oligotyping technique. None of the patients was DQB1-0602 or DQA1-0102 positive, thus proving that, in caucasians, DQB1-0602 and DQA1-0102 (DQw1) are not prerequisites for the diagnosis of narcolepsy. Further studies with more patients are warranted to exclude the possibility that a few caucasian patients carry rare haplotypes with DQB1-0602 independently of DR2.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence / genetics
  • Base Sequence / genetics
  • Cataplexy / genetics
  • Chromosome Mapping
  • DNA Probes
  • Genetic Markers / genetics*
  • HLA-DQ Antigens / genetics*
  • HLA-DQ alpha-Chains
  • HLA-DR2 Antigen / genetics*
  • Humans
  • Molecular Sequence Data
  • Narcolepsy / genetics*
  • Polymerase Chain Reaction
  • Risk Factors
  • White People*

Substances

  • DNA Probes
  • Genetic Markers
  • HLA-DQ Antigens
  • HLA-DQ alpha-Chains
  • HLA-DQ1 antigen
  • HLA-DQA1 antigen
  • HLA-DR2 Antigen