MC1R基因与雀斑表型相关的SNP位点检测

Objective Investigate single nucleotide polymorphisms of MC1R gene and the relationship with freckles in Chinese Han population from Chengdu. Methods The whole sequence of MC1R gene was sequenced to detect highly polymorphic SNPs from twenty randomly selected samples which are unrelated. Genomic DNA were extracted by salt-extraction method from 113 freckles and 200 non-freckles samples, freckles and non-freckles DNA pool was prepared using these DNA fragments. The allele frequencies of each SNPs were evaluated by Pyrosequencing, and the relationship of freckles with allele frequencies of the freckles and control samples were detected by χ2 test. Results Eleven SNPs were found through the 3099 bp MC1R gene sequencing, and the allele frequency differences of each SNP in freckles and control groups were less than 5% after pyrosequencing. These results suggested that there were no significant differences between freckles samples and controls in Chinese population ( p>0.05) . Conclusions We had not yet found SNPs of MC1R gene which were strongly associated with freckles in Han population in Chengdu, China.