3q27片段9个单核苷酸多态性位点的人群分布特点

Objective: To detect the frequencies of genotypes and alleles distribution of 9 single nucleotide polymorphisms (SNPs) on chromosome 3q27 fragment and compare the distributions of SNPs among different races. Methods: Ligase detection reaction (LDR) was used to detect the SNPs genotypes of 528 Han population in Henan Xin'an. Moreover, the genetic information was compared among this population and four other populations from Hapmap plan of NCBI SNP database. Result: The allele distributions of all loci were good agreement with the Hardy-Weinberg equilibrium in different genders, which suggested that the sample population was representative. There was not significant difference between the population of this study and Han Chinese (HCB) in Hapmap. The different ethnic populations had different distribution frequencies of genotypes and alleles on these genetic locus (P<0.001) except rs6445137 locus (genotypes comparison: χ2= 1.991, P=0.919; alleles comparison: χ2=0.232, P=0.972). Conclusion: The frequencies description of genotype and allele of 9 SNPs at 3q27 provided a theoretical basis for the further study of association between the gene polymorphism with diabetes, obesity and other chronic non-communicable diseases.