Objective To explore the distributional characteristics of genetic polymorphisms (rs2229338 and rs12218) of serum amyloid protein A1 (SAA1) in healthy Chinese Han and Uighur population of Xinjiang.

Methods 316 Uighur and 362 Han healthy persons were detected the genotypes of the SAA1 by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP).

Results The genotype distributions of the Uighur group and the Han group were in the Hardy-Weinberg equilibrium (both P > 0.05). The frequencies of AA, AG and GG of rs2229338 were 76.6%, 23.4%, and 0 in Uighur group while ones were 91.7%, 7.7% and 0.6% in Han group. There was significant difference in distribution of genotypes between these two groups (P < 0.001). The frequencies of CC, CT and TT of rs12218 were 10.1%, 47.5%, and 42.4% in Uighur group while ones were 3.3%, 34.3% and 62.4% in Han group. There was also significant difference in distribution of genotypes between these two groups (P < 0.001). The A-C and G-T haplotypes were more frequency in the Uighur but the A-T haplotype was more common in the Han population, respectively (both P < 0.001).

Conclusions The mutational frequencies of the tagging SNP (rs2229338 and rs12218) in the SAA1 gene of Uighur population were higher than those of Han.