调控性SNP与羟自由基切割谱变化值的关系研究

摘要

目的 将一种新的功能性非编码区预测方法--羟自由基切割法应用于调控性单核苷酸多态性(rSNP)的识别,验证其有效性.方法 从人类基因突变数据库(HGMD)中收集99个rSNP,以其所在基因上游2 kb范围内的所有单核苷酸多态性(SNP)为对照;应用羟自由基切割法分别计算正链和负链.结果 以正链计算有统计学差异,rSNP引起的羟自由基切割谱变化小于对照,而以负链计算则无统计学差异.结论 该法识别调控性SNP有统计学意义,但显示趋势与表型相关SNP不一致.%Objective To test the effectiveness of using a new method-hydroxyl radical cleavage pattern that is used to predict the functional non-coding region in the genome-to recognize the regulatory single nucleotide polymorphism ( rSNP ). Methods Ninety-nine rSNPs were collected from Human Gene Mutation Database( HGMD ), and their controls were all the other SNPs located in the 2 kb upstream region of genes. The forward strand and backward strand were calculated respectively. Results The changes in the hydroxyl radical cleavage pattern caused by rSNPs were statistically smaller than those by controls on the forward strand, but not so on backward strand. Conclusion This method presents statistical significance when it is used to recognize the rSNP, but the trend of rSNPs is different from that of the phenotype-associated SNP.