Distribution of genetic polymorphisms of serum amyloid protein A1 in healthy Chinese Han and Uighur populations in Xinjiang / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the genetic polymorphisms of rs2229338 and rs12218 loci of serum amyloid protein A1 (SAA1) gene in healthy Chinese Han and Uighur populations of Xinjiang.</p><p><b>METHODS</b>The genotypes of the SAA1 gene were detected in 316 Uighur and 362 Han healthy individuals by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP).</p><p><b>RESULTS</b>The genotype distributions of both populations were in the Hardy-Weinberg equilibrium (both P>0.05). The frequencies of AA, AG and GG genotypes of the rs2229338 locus were 76.6%, 23.4%, and 0 in the Uighurs, and 91.7%, 7.7% and 0.6% in the Hans. There was significant difference in distribution of genotypes between the two populations (P<0.01). The frequencies of CC, CT and TT genotypes of the rs12218 locus were 10.1%, 47.5%, and 42.4% in Uighurs, and 3.3%, 34.3% and 62.4% in Hans. There was also significant difference in distribution of genotypes between the two populations (P<0.01). The A-C and G-T haplotypes were more frequent in the Uighur but the A-T haplotype was more common in the Han population, respectively (both P<0.01).</p><p><b>CONCLUSION</b>The mutational frequencies of the tagging SNPs in rs2229338 and rs12218 loci of theSAA1 gene in the Uighurs may be higher than those in Hans.</p>