[Analysis of Gene Recombination between HLA-B and -DRB1, HLA-DQB1 and -DPB1 Loci].

ABSTRACT

OBJECTIVE: To investigate the recombinations within the human leukocyte antigen (HLA) region in two families. METHODS: Genomic DNA was extracted from the peripheral blood specimens of the different family members. HLA-A, -B, -C, -DRB1, -DQB1 and -DPB1 loci were genotyped using polymerase chain reaction-sequence specific oligonucleotide probing technique (PCR-SSO) and next-generation sequencing technique. HLA haplotype was determined by genetic analysis of the pedigree. RESULTS: The haplotypes of HLA-A*1101~C*0304~B*1301~DRB1*1202~DQB1*0301~DPB1*050101G and HLA-A*0301~C*0401~B*3503~DRB1*1201~DQB1*0301~DPB1*040101G in the family 1 were recombined between HLA-B and HLA-DRB1 loci, which formed the haplotype of HLA-A*1101~C*0304~B*1301~DRB1* 1201~DQB1*0301~DPB1*040101G. The haplotypes of HLA-A *0206~C*0303~B*3501~DRB1*0802~DQB1*0402~ DPB1*130101G and HLA-A *1101~C*0702~B*3802~DRB1*1502~DQB1*0501~DPB1*050101G in the family 2 were recombined between HLA-DQB1 and HLA-DPB1 loci, which formed the haplotype of HLA-A*0206~C*0303~B*3501~ DRB1*0802~DQB1*0402~DPB1*050101G. CONCLUSION: The gene recombination events between HLA-B and -DRB1, HLA-DQB1 and -DPB1 loci were found respectively in two Chinese Han families.