SNPstream基因分型技术在医学遗传学研究中的应用  

Application of SNPstream for medical genetics research

作　　者：费丽娟[1] 季林丹[1] 张莉娜[1] 华帅[1] 金洁琼[1] 徐进[1] 

机构地区：[1]宁波大学医学院（费丽娟、季林丹、张莉娜、徐进）；中国科学院昆明动物研究所遗传资源与进化国家重点实验室（华帅、金洁琼、（徐进）,浙江省315211

出　　处：《中华医学遗传学杂志》2012年第1期9-12,共4页Chinese Journal of Medical Genetics

基　　金：中国博士后科学基金（20100481399）;浙江省自然科学基金（Y2100857）;宁波市自然科学基金（2010A610071）

摘　　要：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。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.

关 键 词：SNPstream 基因分型 医学遗传学 

分 类 号：R450[医药卫生—治疗学]