基于液态捕获目标精确定位测序的基因分型技术,开发并验证海南黑山羊 10K 液态芯片。

IF 1.9 Q3 GENETICS & HEREDITY BMC genomic data Pub Date : 2024-05-07 DOI:10.1186/s12863-024-01228-8
Yong Meng, Wencan Zhang, Yiwen Cheng, Yanru Wu, Haotian Wu, Meirong He, Si Chen, Churiga Man, Hongyan Gao, Li Du, Qiaoling Chen, Fengyang Wang
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引用次数: 0

摘要

背景:中国有着数千年的山羊养殖历史和丰富的山羊遗传资源。此外,海南黑山羊是我国优质的地方山羊品种之一。为了保护海南黑山羊的种质资源,促进其遗传改良,进一步保护山羊的遗传多样性,迫切需要开发海南黑山羊的单核苷酸多态性(SNP)芯片:本研究的目的是基于液态捕获靶点精确定位测序(cGPS)的基因分型技术,设计出一种10K的海南黑山羊液态芯片。共获得 45,588 个候选 SNP 位点,选择其中具有代表性的 10,677 个 SNP 位点设计探针,最终覆盖 9,993 个区间,形成海南黑山羊 10K cGPS 液体芯片。为了验证 10K cGPS 液体芯片,我们选择了与海南黑山羊表型相似的中国南方山羊品种和绵羊品种。为了验证 10K cGPS 液体芯片对海南黑山羊的聚类能力,共使用了 104 个样本。结果显示,位点检出率为 97.34% -99.93%。84.5%的SNP位点具有多态性。杂合率为 3.08% -36.80%。99.4% 以上的位点深度在 10 倍以上。重复率为 99.66%-99.82%。cGPS 液体芯片结果与重测序结果的平均一致性为 85.58%。此外,系统发生树聚类分析验证了芯片上的 SNP 位点具有较好的聚类能力:这些结果表明,我们成功实现了海南黑山羊 10K cGPS 液体芯片的开发和验证,为海南黑山羊基因组分析提供了有用的工具。此外,10K cGPS液体芯片有利于海南黑山羊种质资源的研究和保护,为其后续育种工作奠定了坚实的基础。
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Development and verification of a 10K liquid chip for Hainan black goat based on genotyping by pinpoint sequencing of liquid captured targets.

Background: China has thousands years of goat breeding and abundant goat genetic resources. Additionally, the Hainan black goat is one of the high-quality local goat breeds in China. In order to conserve the germplasm resources of the Hainan black goat, facilitate its genetic improvement and further protect the genetic diversity of goats, it is urgent to develop a single nucleotide polymorphism (SNP) chip for Hainan black goat.

Results: In this study, we aimed to design a 10K liquid chip for Hainan black goat based on genotyping by pinpoint sequencing of liquid captured targets (cGPS). A total of 45,588 candidate SNP sites were obtained, 10,677 of which representative SNP sites were selected to design probes, which finally covered 9,993 intervals and formed a 10K cGPS liquid chip for Hainan black goat. To verify the 10K cGPS liquid chip, some southern Chinese goat breeds and a sheep breed with similar phenotype to the Hainan black goat were selected. A total of 104 samples were used to verify the clustering ability of the 10K cGPS liquid chip for Hainan black goat. The results showed that the detection rate of sites was 97.34% -99.93%. 84.5% of SNP sites were polymorphic. The heterozygosity rate was 3.08%-36.80%. The depth of more than 99.4% sites was above 10X. The repetition rate was 99.66%-99.82%. The average consistency between cGPS liquid chip results and resequencing results was 85.58%. In addition, the phylogenetic tree clustering analysis verified that the SNP sites on the chip had better clustering ability.

Conclusion: These results indicate that we have successfully realized the development and verification of the 10K cGPS liquid chip for Hainan black goat, which provides a useful tool for the genome analysis of Hainan black goat. Moreover, the 10K cGPS liquid chip is conducive to the research and protection of Hainan black goat germplasm resources and lays a solid foundation for its subsequent breeding work.

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