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研发了一种 690K SNP 基因芯片,并应用于遗传图谱构建和参考基因组序列验证。

Development of a 690 K SNP array in catfish and its application for genetic mapping and validation of the reference genome sequence.

机构信息

The Fish Molecular Genetics and Biotechnology Laboratory, School of Fisheries, Aquaculture, and Aquatic Sciences, and Program of Cell and Molecular Biosciences, Auburn University, Auburn, Alabama 36849, United States of America.

USDA-ARS Warmwater Aquaculture Research Unit, Stoneville, Mississippi 38776, United States of America.

出版信息

Sci Rep. 2017 Jan 12;7:40347. doi: 10.1038/srep40347.

Abstract

Single nucleotide polymorphisms (SNPs) are capable of providing the highest level of genome coverage for genomic and genetic analysis because of their abundance and relatively even distribution in the genome. Such a capacity, however, cannot be achieved without an efficient genotyping platform such as SNP arrays. In this work, we developed a high-density SNP array with 690,662 unique SNPs (herein 690 K array) that were relatively evenly distributed across the entire genome, and covered 98.6% of the reference genome sequence. Here we also report linkage mapping using the 690 K array, which allowed mapping of over 250,000 SNPs on the linkage map, the highest marker density among all the constructed linkage maps. These markers were mapped to 29 linkage groups (LGs) with 30,591 unique marker positions. This linkage map anchored 1,602 scaffolds of the reference genome sequence to LGs, accounting for over 97% of the total genome assembly. A total of 1,007 previously unmapped scaffolds were placed to LGs, allowing validation and in few instances correction of the reference genome sequence assembly. This linkage map should serve as a valuable resource for various genetic and genomic analyses, especially for GWAS and QTL mapping for genes associated with economically important traits.

摘要

单核苷酸多态性(SNPs)在基因组和遗传分析中能够提供最高水平的基因组覆盖,因为它们在基因组中的丰富度和相对均匀分布。然而,如果没有高效的基因分型平台,如 SNP 芯片,就无法实现这种能力。在这项工作中,我们开发了一种具有 690,662 个独特 SNP(本文中为 690 K 阵列)的高密度 SNP 阵列,这些 SNP 相对均匀地分布在整个基因组中,覆盖了参考基因组序列的 98.6%。在这里,我们还报告了使用 690 K 阵列进行的连锁图谱构建,该图谱允许将超过 250,000 个 SNP 映射到连锁图谱上,这是所有构建的连锁图谱中最高的标记密度。这些标记被映射到 29 个连锁群(LGs),共有 30,591 个独特的标记位置。这个连锁图谱将参考基因组序列的 1,602 个支架锚定到 LGs 上,占总基因组组装的 97%以上。总共将 1,007 个以前未映射的支架放置到 LGs 上,允许对参考基因组序列组装进行验证,并在少数情况下进行修正。这个连锁图谱应该成为各种遗传和基因组分析的有价值的资源,特别是对于与经济重要性状相关的基因的 GWAS 和 QTL 图谱构建。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4423/5228154/0aebb694adba/srep40347-f1.jpg

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