切花菊苗期抗寒性评价及相关的分子标记挖掘

为明确切花菊抗寒性的遗传变异,挖掘优异基因资源,本研究利用电导率结合Logistic方程评价83个切花菊品种苗期叶片的低温半致死温度(LT₅₀),通过关联分析探究抗寒性相关的优异等位变异位点并筛选抗性品种资源。结果表明,83个切花菊品种的LT₅₀在-10.99～1.86℃之间,变异系数为79.81%,说明切花菊抗寒性差异较大;依据LT₅₀的聚类分析将83份供试品种分为抗寒、中抗寒、低抗寒和不抗寒4种类型,分别占21.67%、22.89%、32.53%和22.89%。基于混合线性模型进行关联分析,共检测到11个等位变异位点(P<0.01),表型效应值为-3.51～0.83,表型变异贡献率为11.54%～18.83%;其中8个变异位点表现为增效,特别是携带E7M12-13位点品种的耐寒性显著(P<0.01)高于未携带该位点的品种。此外,根据增效位点挖掘到南农金柠檬、Qx097、QD028、Qx049、Qx153和Qx008等6个抗寒性强的品种资源。本研究结果为今后菊花耐寒性的遗传改良和分子标记辅助育种奠定了重要基础。     

广益黑猪繁殖性状的全基因组关联分析

选取441头广益黑猪经产母猪为研究对象,利用猪50K SNP芯片对猪耳组织DNA进行基因型分型,PLINK 1.9质控后,采用GMAT中的重复力模型进行猪繁殖性状相关的全基因组关联分析,确定显著位点。结果表明：441头经产广益黑猪母猪的耳组织DNA基因分型共获得50 898个SNPs,经质控剩余46 165个SNPs位点用于关联分析;平均亲缘关系系数为–0.002 2,平均亲缘关系较远,不存在明显的群体分层;总产仔数性状有1个SNP在全基因组范围内达到显著相关,4个SNPs达到潜在显著关联,候选基因包括PIK3C3、ENSSSCG00000003753、MAP3K3、DCAF7;产活仔数性状有6个SNPs潜在显著关联,候选基因包括ZNF585A、ENSSSCG00000022411、ZNF784、ENSSSCG00000029007、PigE–108A11.5、PigE–108A11.3、ENSSSCG00000023343;弱仔性状有1个SNP达潜在显著关联,候选基因包括KRTAP7–1和TIAM1;经基因功能分析推测,PIK3C3、MAP3K3可能是影响猪总产仔数的候选基因。     

“Arte et Labore”—A Blackburn Rovers fan's legacy in human complex trait genetics

Through his own research contributions on the modelling and genetic analysis of quantitative traits and through his former students and postdocs, Robin Thompson has indirectly left a major legacy in human genetics. In this short note, we highlight examples of the long‐lasting relevance and impact of Robin's work in human genetics. A lone early study of marker‐assisted selection developed many of the tools and approaches later exploited (often after reinvention) by the human genetics community in GWAS studies and for prediction. Furthermore, a particularly clear example of the pervasive impact of Robin's work is that REML has become the default method to estimate variance components and that genetic predictions exploiting linkage disequilibrium in the population are starting to become used in precision medicine applications.     

全基因组关联分析在德国牧羊犬髋关节发育不良研究中的应用现状

犬髋关节发育不良(canine hip dysplasia,CHD)是犬常见的骨科疾病,传统放射学诊断对降低CHD发病率的作用有限,而基因诊断技术则可以有效促进CHD的育种改良。全基因组关联分析(genome wide association study,GWAS)是一种全基因组范围内的遗传标记的检测技术,对复杂性状功能基因的鉴定十分有效,已成为挖掘畜禽复杂疾病和性状遗传的重要方法。随着犬全基因组测序的完成以及犬不同密度SNP芯片的商业化,GWAS已经成为CHD致病基因筛选的一个重要手段。本文综述了GWAS的定义与影响因素,CHD在国外的育种现状及GWAS在德国牧羊犬中的研究进展。     

西北地区和尚头小麦遗传多样性及农艺性状的关联分析

为了解西北地区和尚头小麦种质资源的遗传特性及主要农艺性状特征,采用43份不同来源的和尚头小麦种质材料,在均匀分布于小麦21条染色体上的150个SSR(simple sequence repeats)位点上检测遗传多样性,同时对19个农艺性状在两个试验点进行表型鉴定,并采用GLM(general linear model)模型进行分子标记与表型性状的关联分析。结果表明,19个农艺性状中数量性状遗传多样性明显高于质量性状,除壳色外,其他性状之间均存在不同程度的相关性。利用45对具有多态性的SSR标记共检测出151个等位变异,各标记等位位点变化范围为2～6,平均为3.36个,PIC(polymorphism information content)值变异范围为0.044～0.771。群体遗传结构分析将43份材料划分为8个亚群。关联分析发现11个SSR标记与农艺性状显著关联,单个标记对表型变异的解释率为8.89%～24.74%,这些标记可为特色小麦分子标记辅助选择育种提供理论参考。     

Genomewide association study of immune traits in chicken F2 resource population

Immune traits play pivotal roles in animal immune capacity development and disease resistance. Single nucleotide polymorphisms (SNPs) are common forms of genetic variations among individuals, which are thought to account for the majority of inherited phenotypic variations. In this study, we performed genomewide association, using the Illumina 60K SNP BeadChip studies to detect molecular markers and candidate genes associated with immune traits in an F2 population. Sixteen immune traits were measured. We identified 85 significant SNPs (p < 2.98 × 10^?6) with 5% as the genomewide significance threshold, 380 SNPs of suggestive significance (p < 5.96 × 10^?5) from simple model (general linear model, GLM) and 15 SNPs of suggestive significance (p < 5.96 × 10^?5) from the compressed mixed linear model (MLM), which were also found in GLM (six significant SNPs and seven suggestive SNPs). Three significant SNPs (GGaluGA151406, Gga_rs14554319 and Gga_rs13593979) and candidate genes (LYRM4 and KTN1) were found to be associated with avian influenza antibody titres, and the first two SNPs are from the results of two‐model analysis. For the immune organs, through the analysis of GLM, 19 SNPs were found to be significantly associated with the thymus weight, 61 SNPs were significantly associated with the bursa of Fabricius weight, six of which were located within a 34‐Mb region (125 846 474–159 649 698 bp) on chicken chromosome 1 (GGA1). A candidate region relevant to haematological traits from GLM was found in GGA4 and 9 loci were located on it. Three loci (GGaluGA348521, Gga_rs16098446 and GGaluGA348518) within 179 kb (16 286 868–16 466 134 bp) on GGAZ from GLM provided evidence that this genomic segment may be relevant to red blood cell volume distribution width (RDW). Our study provides a list of significant SNPs and candidate genes that will be valuable information for unveiling the underlying molecular mechanism of immune regulation.