延边地区健康人群Nelin基因单核苷酸多态性研究  

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

作　　者：王琛[1,2] 尤昕[1] 姜春善[1] 柳明洙[2] 崔鲜花[1] 金春花[1] 金春梅[1] 

机构地区：[1]延边大学附属医院检验科,吉林延吉133000 [2]延边大学基础医学院生物化学与分子生物学教研室

出　　处：《中国实验诊断学》2010年第4期543-545,共3页Chinese Journal of Laboratory Diagnosis

基　　金：国家自然科学基金资助项目(No.30760240)

摘　　要：目的分析延边地区健康人群Nelin基因单核苷酸多态性(SNP)的分布特征。方法采用DNA序列测定技术,检测114例延边地区健康人Nelin基因外显子及外显子/内含子连接区的核苷酸序列。利用核酸序列分析软件与Genbank的Nelin基因序列比对,对SNP位点进行序列分析。结果通过对4个外显子SNP位点的序列分析,共发现2个SNP位点。其中1个为NCBI数据库中报道的rs1166698位点,新发现1个位点,NCBI数据库中报道的本研究人群中没有发现的位点3个。rs1166698位点为第8外显子区G/A错义突变(48364365 G/A),其基因型频率为GG:31.6%,GA:52.6%,AA:15.8%,等位基因频率为G:57.9%,A:42.1%。通过对延边地区人群该位点的民族、性别比对分析,基因型、等位基因频率在朝汉族、男女间的分布无明显差异。新发现的位点是第9外显子区A/G错义突变(1195 A/G),基因型AA占88.6%(101/114),AG占11.4%(13/114),未发现突变纯合子GG基因型。结论通过本研究了解了延边地区Nelin基因相关SNP位点遗传分布特征,为研究Nelin基因多态性与疾病的关系奠定了基础。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 exonintron 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（rslt66698） and one was new,but 3 reported sites in the NCBI database were not found in our study.The SNP（rsl166698） 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.

关 键 词：Nelin基因 单核苷酸多态性 健康人群 

分 类 号：R450[医药卫生—治疗学]