HLA class II haplotype and sequence analysis support a role for DQ in narcolepsy IMMUNOGENETICS Ellis, M. C., Hetisimer, A. H., Ruddy, D. A., Hansen, S. L., Kronmal, G. S., McClelland, E., Quintana, L., Drayna, D. T., Aldrich, M. S., Mignot, E. 1997; 46 (5): 410-417


A systematic haplotype and sequencing analysis of the HLA-DR and -DQ region in patients with narcolepsy was performed. Five new (CA)n microsatellite markers were generated and positioned on the physical map across the HLA-DQB1-DQA1-DRB1 interval. Haplotypes for these new markers and the three HLA loci were established using somatic cell hybrids generated from patients. A four-marker haplotype surrounding the DQB1(*)0602 gene was found in all narcolepsy patients, and was identical to haplotypes observed on random chromosomes harboring the DQB1(*)0602 allele. Eighty-six kilobases of contiguous genomic sequence across the region did not reveal new genes, and analysis of this sequence for single nucleotide polymorphisms did not reveal sequence variation among DQB1(*)0602 chromosomes. These results are consistent with other studies, suggesting that the HLA-DQ genes themselves are among the predisposing factors in narcolepsy.

View details for Web of Science ID A1997XX03100006

View details for PubMedID 9271631