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用于家马DNA分型的单核苷酸多态性

Single nucleotide polymorphisms for DNA typing in the domestic horse.

作者信息

Holl H M, Vanhnasy J, Everts R E, Hoefs-Martin K, Cook D, Brooks S A, Carpenter M L, Bustamante C D, Lafayette C

机构信息

Etalon Inc., Menlo Park, CA, 94025, USA.

Agena Bioscience, San Diego, CA, 92121, USA.

出版信息

Anim Genet. 2017 Dec;48(6):669-676. doi: 10.1111/age.12608. Epub 2017 Sep 13.

Abstract

Genetic markers are important resources for individual identification and parentage assessment. Although short tandem repeats (STRs) have been the traditional DNA marker, technological advances have led to single nucleotide polymorphisms (SNPs) becoming an attractive alternative. SNPs can be highly multiplexed and automatically scored, which allows for easier standardization and sharing among laboratories. Equine parentage is currently assessed using STRs. We obtained a publicly available SNP dataset of 729 horses representing 32 diverse breeds. A proposed set of 101 SNPs was analyzed for DNA typing suitability. The overall minor allele frequency of the panel was 0.376 (range 0.304-0.419), with per breed probability of identities ranging from 5.6 × 10 to 1.86 × 10 . When one parent was available, exclusion probabilities ranged from 0.9998 to 0.999996, although when both parents were available, all breeds had exclusion probabilities greater than 0.9999999. A set of 388 horses from 35 breeds was genotyped to evaluate marker performance on known families. The set included 107 parent-offspring pairs and 101 full trios. No horses shared identical genotypes across all markers, indicating that the selected set was sufficient for individual identification. All pairwise comparisons were classified using ISAG rules, with one or two excluding markers considered an accepted parent-offspring pair, two or three excluding markers considered doubtful and four or more excluding markers rejecting parentage. The panel had an overall accuracy of 99.9% for identifying true parent-offspring pairs. Our developed marker set is both present on current generation SNP chips and can be highly multiplexed in standalone panels and thus is a promising resource for SNP-based DNA typing.

摘要

遗传标记是个体识别和亲子关系评估的重要资源。尽管短串联重复序列(STRs)一直是传统的DNA标记,但技术进步使得单核苷酸多态性(SNPs)成为一种有吸引力的替代选择。SNPs可以进行高度多重检测并自动计分,这使得实验室之间更容易实现标准化和数据共享。目前马的亲子关系评估使用的是STRs。我们获得了一个公开可用的包含729匹马的SNP数据集,这些马代表了32个不同的品种。对一组提议的101个SNPs进行了DNA分型适用性分析。该面板的总体次要等位基因频率为0.376(范围为0.304 - 0.419),每个品种的个体识别概率范围为5.6×10至1.86×10 。当有一个亲本可用时,排除概率范围为0.9998至0.999996,不过当两个亲本都可用时,所有品种的排除概率都大于0.9999999。对来自35个品种的388匹马进行基因分型,以评估标记在已知家系中的性能。该组包括107对亲子对和101个完整的三联体。没有马在所有标记上共享相同的基因型,这表明所选的标记集足以进行个体识别。所有成对比较均按照国际动物遗传学会(ISAG)规则进行分类,有一个或两个排除标记的被视为可接受的亲子对,有两个或三个排除标记的被视为可疑,有四个或更多排除标记的则拒绝亲子关系认定。该面板在识别真正的亲子对方面总体准确率为99.9%。我们开发的标记集既存在于当前一代的SNP芯片上,又可以在独立面板中进行高度多重检测,因此是基于SNP的DNA分型的一个有前景的资源。

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