Abstract
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.
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Received: 18 March 1997 / Revised: 23 April 1997
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Ellis, M., Hetisimer, A., Ruddy, D. et al. HLA class II haplotype and sequence analysis support a role for DQ in narcolepsy. Immunogenetics 46, 410–417 (1997). https://doi.org/10.1007/s002510050295
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DOI: https://doi.org/10.1007/s002510050295