Schematic summary of the narcolepsy susceptibility region within the HLA complex. Genes and markers are depicted by vertical bars, alleles observed in narcoleptic patients are listed above each marker.DQB2, DQB3, DQB1, DQA1, and DRB1 are HLA genes and pseudogenes. QBP and QAP are the promoter regions ofDQB1 and DQA1, respectively. G411624R, T16CAR, G51152, DQCAR, and DQCARII are microsatellite CA repeats identified in the HLA DQ region (Mignot et al. 1997a).DQRIV is a compound tandem repeat of 4- and 2-bp units located between DQB1 and G51152. The DQA1*0102allele is subdivided into 01021 and 01022 based on a codon 109 synonymous substitution. Genomic segments in which frequent recombination was detected are indicated by vertical solid lines. Broken lines indicate rare possible ancestral crossovers detected in the area. Crossovers between T16CAR and G51152 occur within ethnic groups; crossovers between QAP and DRB1are frequently observed among ethnic groups (Mignot et al. 1997a). Note that the genomic region shared by most narcoleptic patients extends from a region between T16CAR and G51152 to a region between QAP and DRB1. No other genes were found in 86 kb of genomic sequence surrounding the DQB1*0602 gene (Ellis et al. 1997). Additional diversity is also found at the level ofG51152 and DQRIV, this being most likely due to a slippage mechanism rather than crossover (Lin et al. 1997; Mignot et al. 1997a). (+, Δ, *) Frequent alleles found predominantly in Caucasian, Asian, and African–American populations, respectively; (kb) kilobase pairs. Alleles frequently observed in theDQB1*0602/DQA1*0121 haplotype are underlined. DRB1*1501, DRB1*1503, and DRB1*1602 are DR2 subtypes.DRB1*1101 and DRB1*12022 are DR5 subtypes.
