title: DQ microsatellite association studies in three ethnic groups.
abstract: Polymorphism at the level of three microsatellite markers (DQCAR, DQCARII, G51152) located in the HLA-DQ region was characterized in 78 10th International Histocompatibility Workshop B-cell lines, 718 random Japanese Asians, 99 Norwegian Caucasians and 95 New Guinean Aborigines with established HLA-DRB1, -DQA1 and -DQB1 typing. DQCAR, DQCARII, and G51152 result in 13, 13, and 11 alleles respectively. All three markers were in tight linkage disequilibrium with HLA-DRB1, -DQA1 and -DQB1. DRB1, DQA1, DQCARII, DQCAR, DQB1, and G51152 haplotypes could be defined for all subjects. In fact, DQ microsatellite typing data could predict DQA1 and DQB1 genotypes with high accuracy and may be used as a simple first pass HLA-DQ typing method. The haplotype data was also used to determine recombination in the DRB1-DQA1 (about 80 kb), DQA1-DQCARII (about 4.5 kb), DQCARII-DQCAR (about 7.5 kb), DQCAR-DQB1 (about 1-1.5 kb) and DQB1-G51152 (about 20-25 kb) genomic segments and the relative rate of slippage microsatellite mutations for DQCAR, DQCARII, and G51152. This led us to conclude that recombination is more frequent in the DRB1-DQA1 and DQCAR-DQCARII segments, thus suggesting cross-overs within small genomic segments are not proportional to genetic distance. We also observed that DQCAR had a higher mutation rate than DQCARII or G51152 and that 1 or 2 CA slippage mutations were arising more frequently from large size microsatellite alleles.
authors.affiliation: Center for Narcolepsy, Department of Psychiatry, Stanford University Medical Center, Palo Alto, California, USA.
authors.forename: L
authors.initials: L
authors.lastname: Lin
authors.forename: L
authors.initials: L
authors.lastname: Jin
authors.forename: A
authors.initials: A
authors.lastname: Kimura
authors.forename: M
authors.initials: M
authors.lastname: Carrington
authors.forename: E
authors.initials: E
authors.lastname: Mignot
mesh_terms: D004276:DNA, Satellite / Q000235:genetics*; D005006:Ethnicity; D008040:Genetic Linkage; D006683:HLA-DQ Antigens / Q000235:genetics*; D006801:Humans; D011110:Polymorphism, Genetic
chemical_list: D004276:DNA, Satellite; D006683:HLA-DQ Antigens