Screening and scanning of single nucleotide polymorphisms in the pig melanocortin 1 receptor gene (MC1R) by pyrosequencing
Screening and scanning of single nucleotide polymorphisms in the pig melanocortin 1 receptor gene (MC1R) by pyrosequencing
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DOI：
10.1081/abio-100108341
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发表时间：
2001-01-01
影响因子：
3.7
通讯作者：
Lundeberg, J
中科院分区：
文献类型：
--
作者：
Gustafsson, AC;Kijas, JMH;Lundeberg, J
人们对单核苷酸多态性 (SNP) 的发现和表征的兴趣日益浓厚，强调了对高通量和具有成本效益的评分方法的需求。焦磷酸测序是一种筛选 SNP 的新方法。在这项研究中，我们检查了猪黑皮质素 I 受体基因 (MC1R) 中的品种特异性 SNP，其中一些会导致毛色表型。通过焦磷酸测序分析了代表八个品种和杂交的总共十五头猪。除了 9 个先前已知的 SNP 之外，我们还通过焦磷酸测序检测到一种新的错义突变。我们在这里表明，使用标准反应条件很容易对 SNP 进行评分。明确检测到插入和取代，并根据同源性和杂合性解析所有基因型。
The increasing interest in the discovery and characterization of single nucleotide polymorphisms (SNPs) emphasis the need for high-throughput and cost effective scoring methods. Pyrosequencing is a novel method for screening SNPs. In this study we examine breed specific SNPs in the pig melanocortin I receptor gene (MC1R), some causing coat color phenotypes. A total of fifteen pigs representing eight breeds and crosses were analyzed by pyrosequencing. In addition to nine previously known SNPs, we also detected one new missense mutation by pyrosequencing. We here show that the SNPs were readily scored using standard reaction conditions. Insertions as well as substitutions were unambiguously detected and all genotypes were resolved in terms of homo- and heterozygozity.