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本研究利用全基因组重测序(whole-genome sequencing, WGS)技术对35份来源广泛的紫苏(Perilla frutescens)种质资源进行深度测序分析,挖掘全基因组水平的单核苷酸多态性(single nucleotide polymorphism,SNP)和插入/缺失(insertion/deletion,In Del)变异位点,分析紫苏种质资源的遗传多样性与群体结构,并构建SNP分子身份证,以期系统全面地评价紫苏资源多样性并开发种质鉴别技术。本研究通过高深度全基因组重测序,累计获得462.95 Gb高质量数据,筛选鉴定出14 337 811个SNP和2 551 899个In Del变异位点。系统发育树、主成分分析(principal component analysis, PCA)及群体结构分析(k=3)结果一致将供试材料划分为三个遗传亚群:北方亚群、南方亚群及混合亚群,揭示了紫苏种质资源存在显著的“南-北”地理分化格局。遗传多样性分析显示,总群体的核苷酸多样性(π)为0.001 8,观测杂合度(Ho=0.154)显著低于期望杂合度(He=0.308),平均近交系数(F)高达0.507,表明群体内等位基因分布不平衡,存在显著的杂合子缺失,符合紫苏自花授粉的遗传特性。群体间遗传分化与连锁不平衡(linkage disequilibrium, LD)分析表明,南、北亚群间存在极大的遗传分化(Fst>0.20),与南方亚群相比,北方亚群表现出较慢的LD衰减速度,说明该群体在驯化过程中可能经历了强烈的人工定向选择,基因组连锁程度高。此外,本研究筛选出124个核心SNP位点,构建了包含紫苏种质遗传信息的DNA分子身份证,可实现紫苏种质的数字化鉴定。本研究发现紫苏种质资源遗传多样性丰富,群体间分化显著,研究结果为后续的种质创新、分子育种及资源保护提供了重要的理论依据。
Abstract:In this study, whole-genome resequencing( WGS) technology was employed to conduct deep sequencing analysis on 35 widely collected Perilla frutescens germplasm resources. Genome-wide single nucleotide polymorphism( SNP) and insertion/deletion( InDel) variation sites were mined to analyze the genetic diversity and population structure of Perilla frutescens germplasm resources, and SNP molecular identity cards were constructed. These efforts aimed to comprehensively evaluate the diversity of P. frutescens germplasm resources and develop germplasm identification technologies. Through high-depth whole-genome resequencing, a total of 462. 95 Gb of high-quality data was generated, resulting in the identification of 14 337 811 SNPs and 2 551 899 In Dels. Phylogenetic tree, principal component analysis( PCA), and population structure analysis(k= 3) consistently classified the tested materials into three genetic subgroups: the northern group, the southern group and the mixed group revealing a significant "north-south" geographical differentiation pattern in P. frutescens germplasm resources. Genetic diversity analysis showed that the nucleotide diversity(π) of the total population was 0. 001 8. The observed heterozygosity(Ho= 0. 154) was significantly lower than the expected heterozygosity(He= 0. 308), and the average inbreeding coefficient(F) was as high as 0. 507. These results indicate an unbalanced distribution of alleles and a significant heterozygote deficiency within the population, which corresponds to the self-pollinating genetic characteristic of P. frutescens. Analysis of inter-population genetic differentiation and linkage disequilibrium( LD) revealed substantial genetic differentiation between the northern group and the southern group(Fst>0. 20). Furthermore, the northern group exhibited the slower LD decay rate than the southern group, indicating that the population might have undergone strong artificial directional selection during domestication, resulting in a high degree of genomic linkage. In addition, 124 core SNP loci were selected to construct DNA molecular identity cards containing germplasm genetic information of P. frutescens accessions, enabling digital identification of the P. frutescens germplasm. This study demonstrates that P. frutescens germplasm resources possess rich genetic diversity and significant inter-population differentiation. These findings provide an important theoretical basis for future germplasm innovation, molecular breeding, and resource conservation.
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基本信息:
DOI:10.13417/j.gab.045.000571
中图分类号:S567.219
引用信息:
[1]谢聪,梁丽华,程宵,等.基于全基因组重测序的紫苏种质资源遗传多样性与群体结构分析[J].基因组学与应用生物学,2026,45(03):571-585.DOI:10.13417/j.gab.045.000571.
基金信息:
国家自然科学基金项目(82373976); 广东省乡村振兴战略专项(2026CXTD24、 2025-NQD-21-001)共同资助
2026-06-25
2026-06-25