HLA-A gene polymorphism defined by high-resolution sequence-based typing in 161 Northern Chinese Han people.

Human leukocyte antigen (HLA) system is the most polymorphic region known in the human genome. In the present study, we analyzed for the first time the HLA-A gene polymorphisms defined by the high-resolution typing methods-sequence-based typing (SBT) in 161 Northern Chinese Han people. A total of 74 different HLA-A gene types and 36 alleles were detected. The most frequent alleles were A110101 (GF=0.2360), A24020101 (GF=0.1646), and A020101 (GF=0.1553); followed by A3303 (GF=0.1180), A3001 (GF=0.0590), and A310102 (GF=0.0404). The frequencies of following alleles, A0203, A0205, A0206, A0207, A030101, A2423, A2601, A3201, and A3301, are all higher than 0.0093. The homozygous alleles include A020101, A110101, A24020101 and A*310102. Heterozygosity (H), polymorphism information content (PIC), discrimination power (DP) and probability of paternity exclusion (PPE) of HLA-A in the samples were calculated and their values were 0.8705, 0.8491, 0.6014, and 0.9475, respectively. These results by SBT analysis of HLA-A polymorphism in Northern Chinese Han population, especially the allele subtypes character, will be of great interest for clinical transplantation, disease-associated study and forensic identification. Implementation of high-resolution typing methods allows a significantly wider spectrum of HLA variation including rare alleles. This spectrum will further be extensively utilized in many fields.