Characterization of HLA-F polymorphism in four distinct populations in Mainland China

Currently, there is a lack of information on polymorphism of human leucocyte antigen-F (HLA-F) gene in ethnically diverse human populations. In this study, HLA-F allelic typing was performed for 690 individuals representing two southern Chinese Han populations (Hunan Han and Guangdong Han) and two northern Chinese populations (Inner Mongolia Han and Inner Mongolia Mongol), using polymerase chain reaction-sequence-specific priming (PCR-SSP) and PCR-sequencing methods. Our results showed that (i) HLA-F*01 : 01 predominated in each population with a frequency >0.94 and HLA-F*01 : 03 was relatively more common in the two northern Chinese populations with a frequency of approximately 0.05; (ii) both geographical and ethnical factors are related to HLA-F allelic distribution, as evidenced by the significant difference in HLA-F allelic distribution between the Hunan Han population and the two northern Chinese populations; (iii) significant linkage disequilibrium (LD) was observed for haplotype HLA-A*03-F*01 : 03 in three populations. In most cases, this haplotype extended to HLA-E*01 : 03; and (iv) Ewens-Watterson homozygosity statistic at the HLA-F locus did not depart significantly from expectation in each of the four populations. Our data revealed a low level of HLA-F allelic variation in Chinese populations, suggesting that HLA-F gene may have existed before some of the HLA-A polymorphism and have been evolving under neutrality.