摘要
目的基于HRM的小扩增子法(small-amplicon),探索胆固醇相关转运蛋白ABCA1基因变异rs2230806,rs2066882与良性前列腺增生(BPH)及前列腺癌(PCA)之间的关联。方法基于高分辨熔解曲线(HRM)技术,建立变异位点的小扩增子分型方法,通过Idaho Light Scanner分析,对391例BPH患者,222例PCA患者和86例正常对照者的DNA样本进行分型应用。结果所建立的HRM技术成功对两个SNP位点进行基因分型,不受限于基因变异的位置特征,可成功区分三个变异位点的不同突变型和野生型,并且达到较高的重复性和准确性,经Sanger法测序验证结果完全一致。风险等位基因rs2066882-A的携带可增加BPH(P<0.001,OR=3.871)及PCA(P<0.001,OR=3.708)的风险;rs2230806在各组间的分布未见统计学差异。结论基于小扩增子法的HRM分型技术,可成功对ABCA1基因变异rs2230806,rs2066882进行分型,风险等位基因rs2066882-A的携带可增加BPH和PCA的风险。
Objectives High resolution melting （ HRM） analysis based small-amplicon genotyping method was established to ex-plore the association of rs2230806, rs2066882 in ABCA1 gene in benign prostatic hyperplasia （BPH） and prostate cancer （PCA）. Methods Based on the HRM assay with small amplicon for rs2230806 and rs2066882, we genotyped in 391 BPH patients, 222 PCA patients and 86 healthy controls with Idaho LightScanner.Results According to the genotyping methods based on HRM with small-amplicon, each genotype was successfully distinguished without limitation of the base position, and it showed good performance when used in the clinical population.The genotyping result was entirely consistent with Sanger sequencing validation results.Carriers of the risk allele rs2066882-A increased the risk of BPH （P〈0.001, OR=3.871）and PCA （P〈0.001, OR=3.708）, although rs2230806 showed no statistical significance.Conclusions Based on the HRM genotyping method with small-amplicon, rs2230806 and rs2066882 in ABCA1 were successfully genotyped; and the risk allele rs2066882-A could increase the risk of BPH and PCA simultaneously in our population.
出处
《中国老年保健医学》
2015年第2期12-14,共3页
Chinese Journal of Geriatric Care
基金
国家自然科学基金(30972709
81061120527
81241082
81370445)
北京市科技新星计划(Z121107002512058)
北京医院重大基金(BJ-2010-30)
卫生部部属医院临床学科重点项目(01020101)
卫生部行业基金(201302008)
科技部十二五支撑计划项目(2012BAI10B01)
