基因分型技术进展

《基因分型技术进展》由会员上传分享，免费在线阅读，更多相关内容在教育资源-天天文库。

1、SNP基因分型技术进展www.peoplespotinc.com大纲什么是SNPSNP分型方法www.peoplespotinc.comSNPs概述单核苷酸多态性（singlenucleotidepolymorphisms，SNPs）指基因组DNA序列中由于单个核苷酸（A，G，C，T）插入、缺失、转换和颠换等而引起的多态性，而且任何一种等位基因在群体中的频率不小于1%。二等位基因（bialletic)多态性高保守性高密度：每1kb出现1个SNP第三代遗传标记：第一代RFLP、第二代STRwww.people

2、spotinc.comSNP的应用疾病遗传连锁和关联分析，疾病易感基因的定位药物基因组学人类起源和进化研究法医学领域www.peoplespotinc.com法医学领域应用的优缺点优点：突变率低适于高通量技术分析片段短-适于降解样本分析缺点单个位点信息含量比STR低，需同时分析更多位点应用数据远少于STRwww.peoplespotinc.comSNP分型技术分类方法区分SNPs特异位点的原理方法数据的检测分析手段：荧光、发光、质谱等分析平台：均相、固相支持。www.peoplespotinc.com区分S

3、NPs特异位点的原理方法等位基因特异性杂交(allelespecifichybridization)引物延伸(primerextension)寡核苷酸连接(oligonucleotideligation)入侵分裂(invasivecleavage)www.peoplespotinc.com等位基因特异性杂交1、利用FRET的均相杂交双杂交探针（Roche）TaqMan探针（AB）分子信标2、微阵列杂交和荧光检测www.peoplespotinc.comFRETFluorescenceresonanceene

4、rgytransfer,荧光共振能量传递光源发射光供体受体发射-激发www.peoplespotinc.com双杂交探针DA3‘5’5‘3‘5‘3‘www.peoplespotinc.com双杂交探针www.peoplespotinc.comTaqManwww.peoplespotinc.comTaqManwww.peoplespotinc.com分子信标RQwww.peoplespotinc.com分子信标返回www.peoplespotinc.com微阵列杂交GeneChipsystem（Affymet

5、rix）探针-固相含SNP位点的PCR产物SNP位点大规模筛选www.peoplespotinc.com区分SNPs特异位点的原理方法等位基因特异性杂交(allelespecifichybridization)引物延伸(primerextension)寡核苷酸连接(oligonucleotideligation)入侵分裂(invasivecleavage)www.peoplespotinc.com引物延伸Minisequencing焦磷酸测序等位基因特异性延伸www.peoplespotinc.comMin

6、isequencing电泳-荧光检测：SNaPshot（AB）MALDI-TOFMS质谱微阵列-荧光检测荧光偏振检测www.peoplespotinc.comMinisequencing”(ABISNaPShot)www.peoplespotinc.comMinisequencing”(ABISNaPShot)Multiplex-不同长度引物对应不同SNP位点www.peoplespotinc.comMALDI-TOFMS基质辅助激光解吸电离-飞行时间质谱分子质量与飞行时间相关PinPointassay（A

7、B）10-plexwww.peoplespotinc.com微阵列-荧光检测阵列引物延伸（arrayedprimerextension,APEX）Tag-microarrayswww.peoplespotinc.comwww.peoplespotinc.com荧光偏振检测www.peoplespotinc.comwww.peoplespotinc.comwww.peoplespotinc.com焦磷酸测序模板单链多重能力www.peoplespotinc.com等位基因特异性延伸www.peoplespot

8、inc.com区分SNPs特异位点的原理方法等位基因特异性杂交(allelespecifichybridization)引物延伸(primerextension)寡核苷酸连接(oligonucleotideligation)入侵分裂(invasivecleavage)www.peoplespotinc.com等位基因特异寡核苷酸连接www.peoplespotinc.com商品化试剂盒SNPlexIllumina