Polymorphisms distribution of the Nelin gene in the healthy population in Yanbian area

Objective To investigate the distribution of single nucleotide polymorphisms(SNP) in the Nelin gene in the Yanbian population of China.Methods The nucleotide sequences in the exon and exon-intron junction region of the Nelin gene in 114 individuals were determined by DNA sequencing technology,and were compared with the Genbank sequences determined by nucleotide sequence analysis software.Results 2 SNPs was found among 4 exons,in which one was reported in the NCBI database(rs1166698) and one was new,but 3 reported sites in the NCBI database were not found in our study.The SNP(rs1166698) is a missense mutation(48364365 G/A) in the exon 8,the genotypes were 31.6%(G/G),52.6%(G/A),15.8%(A/A) respectively,and the allele frequency were 57.9%(G) and 42.1%(A).There was not significantly different between Han Nationality and the Korean-chinese,as well as between male and female in Yanbian area.The novel SNP is a missense mutation(1195 A/G) in the exon 9,the genotypes were 88.6%(A/A) and 11.4%(A/G),No GG genotype has been found.Conclusion The results of this study is valuable for polymorphism distribution of the Nelin gene in Yanbian area,and laid the foundation about further study of the relationship between the disease and the genetic polymorphisms of Nelin.