Grubić Z, Zunec R, Naipal A, Kastelan A, Giphart M J
National Referral Organ Transplantation and Tissue Typing Center, University of Zagreb, Croatia.
Tissue Antigens. 1995 Oct;46(4):293-8. doi: 10.1111/j.1399-0039.1995.tb02495.x.
HLA-class II polymorphisms have been studied in a population of 141 unrelated healthy Croatians using PCR amplification, followed by non-radioactive oligonucleotide hybridization. Thirty one DRB1, 8 DQA1, 13 DQB1 and 16 DPB1 alleles were found in the tested population. DRB11601, 0701, 1501, 0101 and 1104 are the most frequent alleles at the DRB1 locus. At the DQA1 locus two alleles predominate: DQA10501 and 0102, while the most frequent DQB1 allele is 0301. Analysis of HLA-DPB1 polymorphism showed that, as in other Europeans, DPB10401 is the most frequent allele. Four different two locus haplotypic associations (DRB1-DRB3, DRB1-DRB5, DRB1-DQB1 and DQA1-DQB1) as well as three locus DRB1-DQA1-DQB1 haplotypic associations were assigned on the basis of known linkage disequilibria. Several unusual two-locus associations have been observed: DRB10301-DRB30202, DRB11501-DRB502, DRB11601-DRB50101, DRB11502-DRB50101, DQA10103-DQB10503 and DQA10501-DQB10302. Among 236 examined DRB1-DQA1-DQB1 haplotypic combinations, the most frequent was DRB11601-DQA10102-DQB1*0502 that was found with statistically significant higher frequency than in other Europeans. Twenty-eight distinct probable haplotypes were observed just once, suggesting that the main characteristic of Croatian population is great heterogeneity of haplotypes. This study will serve as a reference for further anthropology studies, HLA and disease associations studies and for donor/recipient matching in organ and bone marrow transplantation.
我们运用聚合酶链反应（PCR）扩增技术，随后进行非放射性寡核苷酸杂交，对141名无亲缘关系的健康克罗地亚人进行了HLA - II类基因多态性研究。在受试人群中发现了31个DRB1等位基因、8个DQA1等位基因、13个DQB1等位基因和16个DPB1等位基因。DRB11601、0701、1501、0101和1104是DRB1位点最常见的等位基因。在DQA1位点，两个等位基因占主导地位：DQA10501和0102，而最常见的DQB1等位基因是0301。对HLA - DPB1多态性的分析表明，与其他欧洲人一样，DPB10401是最常见的等位基因。基于已知的连锁不平衡，确定了四种不同的两位点单倍型关联（DRB1 - DRB3、DRB1 - DRB5、DRB1 - DQB1和DQA1 - DQB1）以及三位点DRB1 - DQA1 - DQB1单倍型关联。观察到了几种不寻常的两位点关联：DRB10301 - DRB30202、DRB11501 - DRB502、DRB11601 - DRB50101、DRB11502 - DRB50101、DQA10103 - DQB10503和DQA10501 - DQB10302。在236种检测的DRB1 - DQA1 - DQB1单倍型组合中，最常见的是DRB11601 - DQA10102 - DQB1*0502，其出现频率在统计学上显著高于其他欧洲人。28种不同的可能单倍型仅被观察到一次，这表明克罗地亚人群的主要特征是单倍型的高度异质性。本研究将为进一步的人类学研究、HLA与疾病关联研究以及器官和骨髓移植中的供体/受体匹配提供参考。
