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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。
A new functional non-coding region prediction method, hydroxyl radical cleavage, was applied to the identification of regulatory single nucleotide polymorphisms (rSNPs) to validate its effectiveness. Methods Ninety-nine rSNPs were collected from the human genetic mutation database (HGMD), and all single nucleotide polymorphisms (SNPs) within 2 kb upstream of their loci were compared. The hydroxyl-radical cleavage method was used to calculate the positive and negative Negative chain. The results were positive for the calculation of a statistically significant difference, rSNP-induced hydroxyl radical cleavage spectrum changes less than the control, while the negative chain was calculated was no significant difference. Conclusion The method of identification of regulatory SNP was statistically significant, but showed no trend of phenotypic SNP.