title: Polymorphism of HLA-A, -B, -DRB1, -DQA1 and -DQB1 haplotypes in a Croatian population.
abstract: We describe for the first time extended haplotypes in a Croatian population. The present study gives the HLA-A, -B, -DRB1, -DQA1 and -DQB1 allele and haplotype frequencies in 105 families with at least two offspring. All individuals were studied by conventional serology for HLA class I antigens (A and B), while class II alleles (DRB1, DQA1, DQB1) were typed using the PCR-SSOP method. HLA genotyping was performed by segregation in all 105 families. For extended haplotype analysis, 420 independent parental haplotypes were included. Fourteen HLA-A, 18 HLA-B, 28 DRB1, 9 DQA1 and 11 DQB1 alleles were found in the studied population. Most of the DRB1 alleles in our population had an exclusive association with one specific DQA1-DQB1 combination. This strong linkage disequilibrium within the HLA class II region is often extended to the HLA-B locus. A total of 10 HLA-A, -B, -DRB1, -DQA1, -DQB1 haplotypes were observed with a frequency </= 1.0%. The three most frequent haplotypes were HLA-A1, B8, DRB1*0301, DQA1*0501, DQB1*0201; HLA-A3, B7, DRB1*1501, DQA1*0102, DQB1*0602 and HLA-A24, B44, DRB1*0701, DQA1*0201, DQB1*02. These results should provide a useful reference for further anthropological studies, transplantation studies, and studies of associations between HLA and diseases.
authors.affiliation: National Referral Organ Transplantation and Tissue Typing Center, University Hospital Zagreb, Croatia.
authors.forename: Z
authors.initials: Z
authors.lastname: Grubić
authors.forename: R
authors.initials: R
authors.lastname: Zunec
authors.forename: E
authors.initials: E
authors.lastname: Cecuk-Jelicić
authors.forename: V
authors.initials: V
authors.lastname: Kerhin-Brkljacić
authors.forename: A
authors.initials: A
authors.lastname: Kastelan
mesh_terms: D017523:Croatia; D005828:Genetics, Population; D015234:HLA-A Antigens / Q000235:genetics*; D015235:HLA-B Antigens / Q000235:genetics*; D006683:HLA-DQ Antigens / Q000235:genetics*; D059848:HLA-DQ alpha-Chains; D059866:HLA-DQ beta-Chains; D006684:HLA-DR Antigens / Q000235:genetics*; D059811:HLA-DRB1 Chains; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D009693:Nucleic Acid Hybridization; D011110:Polymorphism, Genetic
chemical_list: D015234:HLA-A Antigens; D015235:HLA-B Antigens; D006683:HLA-DQ Antigens; D059848:HLA-DQ alpha-Chains; D059866:HLA-DQ beta-Chains; C069050:HLA-DQA1 antigen; C069051:HLA-DQB1 antigen; D006684:HLA-DR Antigens; D059811:HLA-DRB1 Chains; C553502:HLA-DRB1*03:01 antigen