title: HLA class II haplotype and sequence analysis support a role for DQ in narcolepsy.
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.
authors.affiliation: Mercator Genetics, Inc., 4040 Campbell Ave., Menlo Park, CA 94025, USA.
authors.forename: M C
authors.initials: MC
authors.lastname: Ellis
authors.forename: A H
authors.initials: AH
authors.lastname: Hetisimer
authors.forename: D A
authors.initials: DA
authors.lastname: Ruddy
authors.forename: S L
authors.initials: SL
authors.lastname: Hansen
authors.forename: G S
authors.initials: GS
authors.lastname: Kronmal
authors.forename: E
authors.initials: E
authors.lastname: McClelland
authors.forename: L
authors.initials: L
authors.lastname: Quintana
authors.forename: D T
authors.initials: DT
authors.lastname: Drayna
authors.forename: M S
authors.initials: MS
authors.lastname: Aldrich
authors.forename: E
authors.initials: E
authors.lastname: Mignot
mesh_terms: D015984:Causality; D002874:Chromosome Mapping; D005819:Genetic Markers; D015698:Genomic Library; D005838:Genotype; D006683:HLA-DQ Antigens / Q000235:genetics*; D059866:HLA-DQ beta-Chains; D006239:Haplotypes; D006650:Histocompatibility Testing; D006801:Humans; D018895:Microsatellite Repeats; D009290:Narcolepsy / Q000209:etiology / Q000235:genetics*; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA
chemical_list: D005819:Genetic Markers; D006683:HLA-DQ Antigens; D059866:HLA-DQ beta-Chains; C069051:HLA-DQB1 antigen