Abstract: Objective To analyze the polymorphism of rs220030, a SNP which is located in the promoter region of small nuclear ribonucleoprotein polypeptide N （SNRPN） gene in the Chinese Han population and to obtain the data of population genetics. Methods The denaturing gradient gel electrophoresis （DGGE） method was applied to detect the polymorphism of rs220030 in 100 unrelated and healthy individuals from the Shanghai Han population. The genotyping result of this SNP was confirmed by TaqMan assay in some typical samples. Results DGGE results showed 4 bands for CT heterozygote, and 1 band for CC or TT homozygote, and those results were confirmed by The TaqMan SNP genotyping assays. Genotyping results showed 34 individuals with CC, 41 with CT and 25 with TT of rs220030. The allele frequencies for C and T were 0.545 and 0.455, respectively. H was 0.500, PIC was 0.373, DP was 0.654, and PE was 0.186. The distribution of genotype frequencies were in Hardy-Weinberg equilibrium. Conclusion DGGE is a quick and effective method in the analysis of SNP polymorphism in small population. Statistical parameters of rs220030 for forensic evaluation meet the requirements for forensic identification and paternity testing.

Key words: forensic genetics, polymorphism, single nucleotide, denaturing gradient gel electrophoresis, rs220030