CAJ | 학술논문

目的对SNPstream基因分型技术的原理、操作方法、效果及应用的可行性、性价比及优缺点进行系统评价.方法根据152个单核苷酸多态性(single nucleotide polymorphism,SNP)上万份样品的SNPstream基因分型结果来分析该技术的可行性、应答率和一致率.用测序法验证SNPstream基因分型的准确性.结果在152个SNP中有122个可用本方法分型,其中116个分型成功,成功率达95.1％.重复试验显示分型一致率为99％.测序验证显示,当SNPstream基因分型聚类清晰时,准确性可达100％,当聚类不清晰时,准确性可达93.8％.结论 SNPstream基因分型技术具有准确性高、通量灵活、性价比高的特点,在医学遗传学研究中将得到更多的应用.
목적 대SNPstream기인분형기술적원리、조작방법、효과급응용적가행성、성개비급우결점진행계통평개.방법 근거152개단핵감산다태성(single nucleotide polymorphism,SNP)상만빈양품적SNPstream기인분형결과래분석해기술적가행성、응답솔화일치솔.용측서법험증SNPstream기인분형적준학성.결과 재152개SNP중유122개가용본방법분형,기중116개분형성공,성공솔체95.1％.중복시험현시분형일치솔위99％.측서험증현시,당SNPstream기인분형취류청석시,준학성가체100％,당취류불청석시,준학성가체93.8％.결론 SNPstream기인분형기술구유준학성고、통량령활、성개비고적특점,재의학유전학연구중장득도경다적응용.
Objective To introduce the principle,procedure,efficacy and application of SNPstream genotyping technology.Methods Genotyping results of 152 SNPs were used to analyze the feasibility,call rate and accuracy of SNPstream technology. Results For the 152 selected SNPs,122 SNPs can be genotyped with SNPstream,for which 116 SNPs were successfully genotyped.Replication study showed that the repeatability of genotyping is 99％. When the allele cluster was clear,the accuracy can reach 100％.But when the allele cluster was obscure,the accuracy was only 93.8％.Conclusion SNPstream technology has the advantages of high accuracy,flexible throughput,and high cost performance,and may have a wide application for medical genetics research.