Analysis of DNA polymorphism at HLA-A locus by PCR amplification with sequence specific oligonucleotide probe in Chinese Han and Uygur populations.

To determine HLA-A genetic polymorphism in Chinese populations and establish ethnic genetic database, 165 Han and 162 Uygur subjects were investigated with a non-isotopic and sensitive method PCR-SSOP. 22 alleles were identified in Han with the most frequent allele being HLA-A * 1101 (19.7%), followed by * 0201 (12.72%). Also, 22 alleles were identified in Uygur with * 2407 (17.90%) being the most frequent one and the frequencies of following alleles: * 0201, * 0101, * 3301 were higher than 10%. HLA-A * 0203, * 0205, * 0210, * 0302, * 2403 and * 3302 were only detected in Han; meanwhile * 0205, * 0211, * 2301, * 2502, * 68012 and * 6802 were only in Uygur. According to Hardy-Weinberg equilibrium, each allele showed no significant (P > 0.05) deviation between the expected frequency and the observed one. Heterozygosity (H), discrimination power (DP) and probability of paternity exclusion (EPP) of HLA-A locus from Han nationality were computed to be 0.9029, 0.9776 and 0.8592; and those from Uygur as 0.9063, 0.9379 and 0.7885. These results suggest that HLA-A DNA polymorphism and the database of two Chinese populations have useful applications in processing forensic casework (as personal identification, paternity test), tracing population migration and genetic diagnosis.