Somers Daryl J, Kirkpatrick Robert, Moniwa Mariko, Walsh Andrew
Agriculture and Agri-Food Canada, Cereal Research Centre, 195 Dafoe Road, Winnipeg, MB R3T 2M9, Canada.
Genome. 2003 Jun;46(3):431-7. doi: 10.1139/g03-027.
Single-nucleotide polymorphisms (SNPs) represent a new form of functional marker, particularly when they are derived from expressed sequence tags (ESTs). A bioinformatics strategy was developed to discover SNPs within a large wheat EST database and to demonstrate the utility of SNPs in genetic mapping and genetic diversity applications. A collection of > 90000 wheat ESTs was assembled into contiguous sequences (contigs), and 45 random contigs were then visually inspected to identify primer pairs capable of amplifying specific alleles. We estimate that homoeologue sequence variants occurred 1 in 24 bp and the frequency of SNPs between wheat genotypes was 1 SNP/540 bp (theta = 0.0069). Furthermore, we estimate that one diagnostic SNP test can be developed from every contig with 10-60 EST members. Thus, EST databases are an abundant source of SNP markers. Polymorphism information content for SNPs ranged from 0.04 to 0.50 and ESTs could be mapped into a framework of microsatellite markers using segregating populations. The results showed that SNPs in wheat can be discovered in ESTs, validated, and be applied to conventional genetic studies.
单核苷酸多态性(SNP)代表了一种新的功能标记形式,尤其是当它们源自表达序列标签(EST)时。我们开发了一种生物信息学策略,用于在一个大型小麦EST数据库中发现SNP,并证明SNP在遗传图谱构建和遗传多样性应用中的实用性。将超过90000个小麦EST组装成重叠群(contig),然后对45个随机重叠群进行目视检查,以鉴定能够扩增特定等位基因的引物对。我们估计同源序列变异每24个碱基出现1次,小麦基因型之间SNP的频率为1个SNP/540个碱基(θ=0.0069)。此外,我们估计每个含有10 - 60个EST成员的重叠群都可以开发出一个诊断性SNP检测。因此,EST数据库是SNP标记的丰富来源。SNP的多态性信息含量范围为0.04至0.50,并且可以使用分离群体将EST定位到微卫星标记框架中。结果表明,小麦中的SNP可以在EST中被发现、验证,并应用于传统的遗传研究。