Objective: To explore the genetic polymorphisms of four microsatellite DNA markers from telomeric HLA I region (D6S1624, D6S258, M6S211 and D6S510) and their linkage disequilibrium with HLA-A in a southern Chinese Han population residing in Hunan province.
Methods: Fluorescent PCR/Size-sequencing was carried out to analyze the polymorphisms of D6S1624, D6S258, M6S211 and D6S510 loci, and polymerase chain reaction-sequence specific priming (PCR-SSP) technique was used for HLA-A typing.
Results: The genotypic distributions at the 5 loci were consistent with Hardy-Weinberg equilibrium (P> 0.05). The number of allelic variants for D6S1624, D6S258, M6S211 and D6S510 loci were 10, 10, 12 and 9, respectively. Each locus had several main alleles and the dominant alleles were D6S1624-*199, D6S258-*195, M6S211-*261 and D6S510-*186. All of the 4 microsatellite markers exhibited high heterozygosity values (0.7142-0.8316) and polymorphism information content values (0.6686-0.811). No global linkage disequilibrium (LD) was detected between D6S1624 and HLA-A (P= 0.2646), or between D6S258 and HLA-A (P= 0.3481). In contrast, very significant global LD was found between M6S211 and HLA-A (P< 0.0001), and between D6S510 and HLA-A(P< 0.0001). Subsequent analysis for haplotypes with an observed frequency of > or = 3% revealed that only 2 of the 10 D6S1624-HLA-A haplotypes and 3 of the 9 D6S258-HLA-A haplotypes displayed weak or moderate LD, while 7 out of the 8 M6S211-HLA-A haplotypes, 6 among the 7 D6S510-HLA-A haplotypes were in tight LD.
Conclusion: Authors have characterized four microsatellite DNA markers, D6S1624, D6S258, M6S211 and D6S510 in a southern Chinese Han population. Findings shown here can be helpful for those studies mainly addressing the association between HLA I sub-region and diseases. The data also provide basis for future study in forensics, HLA matching in clinical transplantation and anthropology.