Mining elite loci and candidate genes for root morphology-related traits at the seedling stage by genome-wide association studies in upland cotton(Gossypium hirsutum L.)

Root system architecture plays an essential role in water and nutrient acquisition in plants,and it is significantly involved in plant adaptations to various environmental stresses.In this study,a panel of 242 cotton accessions was collected to investigate six root morphological traits at the seedling stage,including main root length(MRL),root fresh weight(RFW),total root length(TRL),root surface area(RSA),root volume(RV),and root average diameter(AvgD).The correlation analysis of the six root morphological traits revealed strong positive correlations of TRL with RSA,as well as RV with RSA and AvgD,whereas a significant negative correlation was found between TRL and AvgD.Subsequently,a genome-wide association study(GWAS)was performed using the root phenotypic and genotypic data reported previously for the 242 accessions using 56,010 single nucleotide polymorphisms(SNPs)from the CottonSNP80K array.A total of 41 quantitative trait loci(QTLs)were identified,including nine for MRL,six for RFW,nine for TRL,12 for RSA,12 for RV and two for AvgD.Among them,eight QTLs were repeatedly detected in two or more traits.Integrating these results with a transcriptome analysis,we identified 17 candidate genes with high transcript values of transcripts per million(TPM)≥30 in the roots.Furthermore,we functionally verified the candidate gene GH_D05G2106,which encodes a WPP domain protein 2in root development.A virus-induced gene silencing(VIGS)assay showed that knocking down GH_D05G2106significantly inhibited root development in cotton,indicating its positive role in root system architecture formation.Collectively,these results provide a theoretical basis and candidate genes for future studies on cotton root developmental biology and root-related cotton breeding.

Genetic dissection and origin of pleiotropic loci underlying multilevel fiber quality traits in upland cotton(Gossypium hirsutum L.)

Cotton fiber quality is a persistent concern that determines planting benefits and the quality of finished textile products.However,the limitations of measurement instruments have hindered the accurate evaluation of some important fiber characteristics such as fiber maturity,fineness,and neps,which in turn has impeded the genetic improvement and industrial utilization of cotton fiber.Here,12 single fiber quality traits were measured using Advanced Fiber Information System(AFIS)equipment among 383 accessions of upland cotton(Gossypium hirsutum L.).In addition,eight conventional fiber quality traits were assessed by the High Volume Instrument(HVI)System.Genome-wide association study(GWAS),linkage disequilibrium(LD)block genotyping and functional identification were conducted sequentially to uncover the associated elite loci and candidate genes of fiber quality traits.As a result,the previously reported pleiotropic locus FL_D11 regulating fiber length-related traits was identified in this study.More importantly,three novel pleiotropic loci(FM_A03,FF_A05,and FN_A07)regulating fiber maturity,fineness and neps,respectively,were detected based on AFIS traits.Numerous highly promising candidate genes were screened out by integrating RNA-seq and qRT-PCR analyses,including the reported GhKRP6 for fiber length,the newly identified GhMAP8 for maturity and GhDFR for fineness.The origin and evolutionary analysis of pleiotropic loci indicated that the selection pressure on FL_D11,FM_A03 and FF_A05 increased as the breeding period approached the present and the origins of FM_A03 and FF_A05 were traced back to cotton landraces.These findings reveal the genetic basis underlying fiber quality and provide insight into the genetic improvement and textile utilization of fiber in G.hirsutum.

Evaluation of a Novel 32 X-STR Loci Multiplex System in the Forensic Application

The AGCU X Plus STR system is a newly developed multiplex PCR kit that detects 32 X-chromosomal STR loci simultaneously.These are DXS6807,DXS9895,linkage group 1(DXS10148,DXS10135,DXS8378),DXS9902,DXS6795,DXS6810,DXS10159,DXS10162,DXS10164,DXS7132,linkage group 2(DXS10079,DXS10074,DXS10075),DXS981,DXS6800,DXS6803,DXS6809,DXS6789,DXS7424,DXS101,DXS7133,GATA172D05,GATA165B12,linkage group 3(DXS10103,HPRTB,DXS10101),GATA31E08 and linkage group 4(DXS8377,DXS10134,DXS7423).A major advantage of this kit is that it takes into account linkage between loci,in addition to detecting more X-STR loci.In order to evaluate the forensic application of 32 X-STR fl uorescence amplifi cation system,PCR settings,sensitivity,species specifi city,stability,DNA mixtures,concordance,stutter,sizing precision,and population genetics investigation were evaluated according to the Scientific Working Group on DNA Analysis Methods(SWGDAM)developmental validation guidelines.The study showed that the genotyping results of each locus were signifi cantly accurate when the DNA template was at least 62.5 pg.Complete profi les were obtained for the 1∶1 and 1∶3 combinations.A total of 209 unrelated individuals from Southern Chinese Han community,consisting of 84 females and 125 males,were selected for population studies,and 285 allele profi les were detected from 32 X-STR loci.The polymorphism information content(PIC)ranged from 0.2721 in DXS6800,to 0.9105 in DXS10135,with an average of 0.6798.DXS10135(PIC=0.9105)was the most polymorphic locus,with discrimination power(DP)of 0.9164 and 0.9871 for the male and female.The cumulative PD_(F),PD_(M),MEC_(trio) and MEC_(duo) valu es were all greater than 0.999999999.There were 78 different DXS10103-HPRTB-DXS10101 haplotypes among the 125 males,and the haplotype diversity was 0.9810.There was no signifi cant difference in the cumulative PD_(F),PD_(M),MEC_(trio) and MEC_(duo) values whether considering linkage or not.In summary,the new X-STR multiplex typing system is effective and reliable,which can be useful in human genetic analysis and kinship testing as a potent complement to autosomal STR typing.

Heterotic loci identified for plant height and ear height using two CSSLs test populations in maize

Heterosis is an important biological phenomenon, and it has been used to increase grain yield, quality and resistance to abiotic and biotic stresses in many crops. However, the genetic mechanism of heterosis remains unclear up to now. In this study, a set of 184 chromosome segment substitution lines （CSSLs） population, which derived from two inbred lines Ix9801 （the recurrent parent） and Chang 72 （the donor parent）, were used as basal material to construct two test populations with the inbred lines Zheng 58 and Xun 9058. The two test populations were evaluated in two locations over two years, and the heterotic loci for plant height and ear height were identified by comparing the performance of each test hybrid with the corresponding CK at P〈0.05 significant level using one-way ANOVA analysis and Duncan＇s multiple comparisons. There were 24 and 29 different heterotic loci （HL） identified for plant height and ear height in the two populations at two locations over two years. Three HL （hlPH4a, hlPH7c, hlPHlb） for plant height and three （hlEHld, hlEH6b, hlEHlb） for ear height were identified in the CSSLs×Zheng 58 and CSSLs×Xun 9058 populations as contributing highly to heterosis performance of plant height and ear height across four environments. Among the 29 HL identified for ear height, 12 HL （41.4%） shared the same chromosomal region associated with the HL （50.0%） identified for plant height in the same test population and environment.

Dissection of heterotic loci for grain yield using interconnected chromosome segment substitution lines in rice

Heterosis contributes greatly to crop production, but the genetic basis of heterosis is not fully understood.To identify heterotic loci(HLs) for grain yield, 12 yield traits were evaluated in four rice(Oryza sativa L.)mapping populations: one parental population of chromosome segment substitution lines derived from a cross between the japonica cultivar Nipponbare and indica cultivar 9311 and three connected test populations in either a homozygous 9311 genetic background or a heterozygous background. A total of 390 HLs were detected for the measured traits in two environments. The genetic bases of heterosis differed between the backcross and testcross populations. At least 10 HLs were confirmed in F1 hybrids between9311 and near-isogenic lines, each of which carried a heterotic locus of interest in the same 9311 background. All 10 showed overdominant or dominant effects on grain yield and yield components. Among them, three were verified as being associated with yield heterosis and colocalized in the same regions as those containing previously reported heterosis-associated genes. Five HLs were identified to be promising candidate loci that could be used to achieve more than 15% yield heterosis in several commercial rice hybrids. These findings suggest the potential of indica or japonica introgression for increasing yield in hybrid rice breeding programs.

Analyses and identifications of quantitative trait loci and candidate genes controlling mesocotyl elongation in rice

Rice direct seeding has the significant potential to save labor and water,conserve environmental resources,and reduce greenhouse gas emissions tremendously.Therefore,rice direct seeding is becoming the major cultivation technology applied to rice production in many countries.Identifying and utilizing genes controlling mesocotyl elongation is an effective approach to accelerate breeding procedures and meet the requirements for direct-seeded rice(DSR) production.This study used a permanent mapping population with 144 recombinant inbred lines(RILs) and 2 828 bin-markers to detect quantitative trait loci(QTLs) associated with mesocotyl length in 2019 and 2020.The mesocotyl lengths of the rice RILs and their parents,Lijiangxintuanheigu(LTH) and Shennong 265(SN265),were measured in a growth chamber at 30°C in a dark environment.A total of 16 QTLs for mesocotyl length were identified on chromosomes 1(2),2(4),3(2),4,5,6,7,9,11(2),and 12.Seven of these QTLs,including qML1a,qML1b,qML2d,qML3a,qML3b,qML5,and qML11b,were reproducibly detected in both years via the interval mapping method.The major QTL,qML3a,was reidentified in two years via the composite interval mapping method.A total of 10 to 413 annotated genes for each QTL were identified in their smallest genetic intervals of 37.69 kb to 2.78 Mb,respectively.Thirteen predicted genes within a relatively small genetic interval(88.18 kb) of the major mesocotyl elongation QTL,qML3a,were more thoroughly analyzed.Finally,the coding DNA sequence variations among SN265,LTH,and Nipponbare indicated that the LOC_Os03g50550 gene was the strongest candidate gene for the qML3a QTL controlling the mesocotyl elongation.This LOC_Os03g50550 gene encodes a mitogen-activated protein kinase.Relative gene expression analysis using qRT-RCR further revealed that the expression levels of the LOC_Os03g50550 gene in the mesocotyl of LTH were significantly lower than in the mesocotyl of SN265.In conclusion,these results further strengthen our knowledge about rice’s genetic mechanisms of mesocotyl elongation.This investigation’s discoveries will help to accelerate breeding programs for new DSR variety development.

Genetic susceptibility loci of lung cancer are associated with malignant risk of pulmonary nodules and improve malignancy diagnosis based on CEA levels

Objective:The heightened prevalence of pulmonary nodules(PN)has escalated its significance as a public health concern.While the precise identification of high-risk PN carriers for malignancy remains an ongoing challenge,genetic variants hold potentials as determinants of disease susceptibility that can aid in diagnosis.Yet,current understanding of the genetic loci associated with malignant PN(MPN)risk is limited.Methods:A frequency-matched case-control study was performed,comprising 247 MPN cases and 412 benign NP(BNP)controls.We genotyped 11 established susceptibility loci for lung cancer in a Chinese cohort.Loci associated with MPN risk were utilized to compute a polygenic risk score(PRS).This PRS was subsequently incorporated into the diagnostic evaluation of MPNs,with emphasis on serum tumor biomarkers.Results:Loci rs10429489G>A,rs17038564A>G,and rs12265047A>G were identified as being associated with an increased risk of MPNs.The PRS,formulated from the cumulative risk effects of these loci,correlated with the malignant risk of PNs in a dose-dependent fashion.A high PRS was found to amplify the MPN risk by 156%in comparison to a low PRS[odds ratio(OR)=2.56,95%confidence interval(95%CI),1.40−4.67].Notably,the PRS was observed to enhance the diagnostic accuracy of serum carcinoembryonic antigen(CEA)in distinguishing MPNs from BPNs,with diagnostic values rising from 0.716 to 0.861 across low-to high-PRS categories.Further bioinformatics investigations pinpointed rs10429489G>A as an expression quantitative trait locus.Conclusions:Loci rs10429489G>A,rs17038564A>G,and rs12265047A>G contribute to MPN risk and augment the diagnostic precision for MPNs based on serum CEA concentrations.

跨境知识产权侵权纠纷的域外法律适用

各国在处理跨境知识产权侵权纠纷的域外法律适用问题时主要采取两种模式,即单向域外适用模式与双向域外适用模式。前者更多地是将知识产权视为一种政策性的特权,在处理域外侵权行为时往往不会发生外国的知识产权法被本国法院所适用的情况,但会出现本国知识产权法适用于发生在域外行为的情形;后者更多地是将知识产权视为一种民事权利,对于发生在域外的行为,本国法院既可能适用本国知识产权法律,也可能适用外国知识产权法律,是否发生外国法律的适用取决于一国立法对较为中立的连接点的界定。我国在立法上采取了以“被请求保护地”为连接点的双向域外适用模式,但是在司法实践中往往并不进行法律选择而是径行适用中国知识产权法律。这将导致在司法上采取了将中国知识产权法律适用于域外行为的单向域外适用模式。我国应在跨境知识产权侵权纠纷的域外法律适用问题上回归双向域外适用模式,并在具体纠纷裁判中丰富和明确“被请求保护地”的含义,同时设置“无所不在”侵权行为的特殊法律适用规则,限制当事人共同选择适用法的范围以及确定公共秩序在准据法选择中的适用,以实现维护本国利益的目的。

43个玉米自交系遗传多样性分析及其杂种优势群划分

利用SSR标记对43个玉米自交系进行遗传多样性分析,从100对SSR引物中筛选20对扩增带清晰且具有稳定多态性的引物。结果表明,20对引物在供试材料中共检测出71个等位基因变异,平均每对引物检测到等位基因数3.55个,变幅在2~5个之间;每个标记位点的多态性信息含量(PIC)变幅为0.335~0.796,平均多态性信息量为0.533;表明43个自交系具有较为丰富的遗传多样性。43个自交系之间的遗传相似系数变幅为0.441~0.938。UPGMA聚类分析结果表明,43个自交系被划分为四大类群,聚类结果与系谱分析基本一致。

实验用大林姬鼠种群微卫星标记开发及遗传特性分析

目的 开发大林姬鼠多态性微卫星标记,丰富大林姬鼠遗传数据,为大林姬鼠遗传质量控制及基因定位等工作奠定基础。方法 基于大林姬鼠基因组序列筛选微卫星位点,挖掘微卫星引物,通过多重PCR技术分析群体的遗传多样性。结果 成功开发出30个微卫星标记,利用60份大林姬鼠基因组DNA对30个微卫星位点进行评价,共检测出152个等位基因,平均每个位点有5.067个等位基因;平均观察杂合度为0.592;平均香农指数为1.265;平均多态信息含量为0.598。结论 基于本研究所开发的微卫星位点具有较好的多态性,能有效分析大林姬鼠群体的遗传多样性,适合为建立大林姬鼠遗传质量标准和遗传质量检测方法奠定基础。

小麦茎基腐病抗性位点研究进展

对小麦茎基腐病(FCR)抗性位点研究进行综述。目前,在小麦所有的21条染色体上定位了140个抗性QTL,含10个抗性基因,虽然报道的抗性位点很多,但主效位点不明确,严重影响小麦FCR抗性改良进程。分析了小麦FCR抗性位点研究中的主要问题,提出了统一抗性鉴定标准、增强成株期抗性研究等建议,以明确抗FCR主效位点/基因并开发分子标记,通过分子标记辅助选择促进FCR抗性改良进程。

籼粳亚种间育性位点分型及籼粳杂交稻育性位点模式研究

【目的】了解我国籼稻、粳稻材料及籼粳杂交稻组合中亚种间育性位点的分布,建立实现亚种间育性亲和所需遗传位点模式,探索新的籼粳杂交稻组合模式,为亚种间亲和材料改良和籼粳育性亲和分子设计育种打下基础。【方法】通过筛选得到育性位点的籼粳分型标记对我国水稻材料进行育性位点的籼粳分型检测,挑选部分籼稻、粳稻亲本进行杂交并统计分析F1代花粉育性和结实率。【结果】籼稻和粳稻之间在所有育性位点均存在少量相互渗入。由于籼稻育性位点渗入,粳稻可以分为Ⅰ型(所有位点均为粳型)和Ⅱ型(Sc^(i)、Sd^(i)和Se^(i),上标i代表来自籼稻)。S5不亲和时籼粳杂交稻结实率约为50%,亲和时结实率约为80%。Sa、Sb、Sc或Sd单个位点杂合对于花粉育性影响较小,但Se/pf12/RHS12单个位点杂合时显著降低花粉育性。籼粳杂交稻材料检测结果表明其育性位点的基本模式是S5和部分花粉育性位点纯合/亲和。带有S5^(n)的籼稻两系不育系深08S与粳稻Ⅱ型材料的杂交F_(1)代的花粉育性和结实率正常。【结论】S5是控制雌配子育性的核心位点。影响雄配子育性的位点具有累加效应,其中Se可能是不可缺少的重要位点。S5+Se与Sa、Sb、Sc、Sd任意两个纯合位点可能是实现籼粳亚种间育性亲和的基本遗传位点模式。以广亲和两系籼稻不育系为母本,常规粳稻为父本的“籼不粳恢”籼粳杂交模式是一个可行的亚种间组合模式。

鹅掌楸基因组部分SNP标记在种源评价中的应用

以6个鹅掌楸(Liriodendron chinense)种源和3个北美鹅掌楸(Liriodendron tulipifera)种源共计23个个体作为研究群体,选取11对真实SNP位点,对这253个SNP标记的PCR产物进行正反向Sanger测序。结果表明:在11个真实SNP位点中,8个SNP位点在中国鹅掌楸和北美鹅掌楸间呈现出多态性,其中3个位点是检测鹅掌楸和北美鹅掌楸种间分化的潜在标记。11个SNP标记在北美鹅掌楸种内都没有多态性。lm_ll_10205、lm_ll_10836、lm_ll_3853和lm_ll_82464个SNP位点在我国东部的湖南浏阳、浙江松阳和江西庐山3个种源间存在多态性,仅有lm_ll_10205位点在我国西部种源间存在多态性。前期开发的SNP标记可以用于鹅掌楸种源遗传多样性的研究。研究种源间SNP位点的变异特征为揭示鹅掌楸的起源、进化以及遗传变异多样性提供了科学数据。

茄子果皮转录组SSR位点分析及标记开发

以茄子(Solanum melongena L.)果皮样品转录组的36568条转录本为试材,采用MISA(MicroSAtellite)软件进行SSR位点搜索,研究SSR位点的分布频率和特征,同时利用Primer 3.0软件对检索出的SSR位点设计引物,验证引物有效性,以期为茄子的种质鉴定、亲缘关系分析、分子标记辅助育种及遗传图谱构建等提供参考依据。结果表明:在转录本中共检测出9775个SSR位点,分布于6289条转录本上,平均5.49 kb存在1个SSR位点,发生频率26.73%。SSR位点特征分析显示,单核苷酸为优势重复基元类型,占SSR位点总数的47.67%;A/T基元是数量最多的重复基元,占总数的46.13%;97.91%的重复基元的重复次数在5~25,92.21%的SSR重复序列长度分布在10~30 bp。对所有SSR位点进行引物设计,共获得6619对EST-SSR引物。随机选择27对EST-SSR引物在12个茄子自交系中进行PCR扩增,引物有效性为92.59%,多态率为33.33%。

涉外知识产权法律适用中被请求保护地法之界定

知识产权法律适用中被请求保护地法起源于《伯尔尼公约》第5条第2款。对《伯尔尼公约》第5条,学者之间形成了“被请求保护地法说”、“来源国法说”和“非冲突规范说”三种不同观点。在《伯尔尼公约》的影响下,各国在相关的国内知识产权冲突法中开始逐步采用被请求保护地的法律。但《伯尔尼公约》第5条第2款与生俱来的争议决定了被请求保护地作为连结点在含义上的模糊性。为此,一些学术机构分别制定了有关知识产权法律适用规则的建议稿,这些规则及解释对于理解被请求保护地具有重大参考价值。2010年颁布的《中华人民共和国涉外民事关系法律适用法》第48条、第50条规定以被请求保护地法作为涉外知识产权法律适用的一般原则。然而,在司法实践中,法院对被请求保护地法的适用存在分歧,带来法律适用的不确定性和不可预见性。我国应该借鉴被请求保护地法在有关国际法律文件中的具体规定,在司法实践中,依据不同类型的知识产权案件,对其含义分别作不同界定。

论我国知识产权确权与保护冲突规范的不足与完善

包括《中华人民共和国涉外民事关系法律适用法》在内的许多国家或地区的冲突法都将“被请求保护地”作为确定涉外知识产权确权和保护案件准据法的重要连接点。“被请求保护地”的法律概念早见于《伯尔尼公约》第5条中“被要求给予保护的国家”的表达,其后续发展与涉外知识产权案件的本质特征紧密相关,应被释义为“原告诉请保护之知识产权有效地”或“双方讼争的知识产权有效地”,且被请求保护地法只在特定情形下才与权利登记地法、法院地法或侵权行为地法重合,但是“被请求保护地”与这些连接点具有完全不同的法律意义。在司法实践中,对“被请求保护地”的认定存在逻辑错误的情况较为常见,且“被请求保护地”目前已被特定化。此外,《法律适用法》第50条的适用顺序仍然存在不明确性,并且规则的公平性存疑。因此需要通过司法解释的形式来明确“被请求保护地”的释义和认定标准,将其与类似的连接点进行明确区分,以增加司法实践的确定性。此外,还需要明确《法律适用法》第50条中有限意思自治原则和被请求保护地法的适用顺序以及第50条和第44条的适用顺序,以进一步化解第50条存在的公平性问题。

基于高通量测序的北柴胡根转录组SSR位点信息分析

以北柴胡根为试材,采用高通量转录组测序方法,获得uingene序列信息,研究分析SSR分布、基元特征,设计、验证EST-SSR引物的有效性,为开发、丰富EST-SSR分子标记奠定基础。结果表明:从北柴胡根转录组中共筛选到31176个SSR位点,分布于21732条unigenes,出现的频率为20.08%,分布密度为3.20个/10 kb,主要重复基元类型以二核苷酸最为丰富,共21056个,占SSR位点总数的67.54%;其次是单核苷酸和三核苷酸,分别占总SSR的19.05%和12.07%;四核苷酸~六核苷酸重复基元数量均较少。不同核苷酸基序类型共有131种基元,重复基元次数在5~11次的数量最多,占SSR总数的91.7%,且长度基本小于15 bp,其中AT/AT和AC/GT这两种基元在二核苷酸中出现频率最高。2064条和1004条含有SSR位点的unigenes分别注释到GO和KEGG通路,获得注释的基因功能主要与基础代谢相关。从22090对具有潜在多态性的EST-SSR引物中,随机挑选20对引物对3个北柴胡种质DNA进行PCR扩增,扩增成功率最高达85%。北柴胡根转录组SSR位点丰富、可用性较强,将促进柴胡的种质资源评价及分子标记辅助育种等工作。

Identification of Quantitative Trait Loci for Anthesis-Silking Interval and Yield Components Under Drought Stress in Maize

A genetic linkage map with 89 SSR marker loci was constructed based on a maize (Zea mays L.) population consisting of 184 F-2 individuals from the cross, Huangzao 4 X Ye 107. The 184 F-3 families were evaluated in the field under well-watered and drought-stressed regimes in Shanxi Province of China. The objectives of the study were to identify genetic segments responsible for the expression of anthesis-silking interval (ASI), ear setting and grain yield, and to examine if the quantitative trait loci (QTLs) for ASI or yield components can be used in marker-assisted selection (MAS) to improve grain yield under drought conditions. Results showed that under well-watered and drought-stressed regimes, three and two QTLs involved in the expression of ASI were detected on chromosomes 1, 2 and 3, and 2 and 5, respectively. Under well-watered regime, two QTLs for ear setting were detected on chromosomes 3 and 6, explaining about 19.9% of the phenotypic variance, and displayed additive and partial dominant effects, respectively. Under drought-stressed condition, four QTLs for ear setting were detected on chromosomes 3, 7 and 10, which were responsible for interpreting 60.4% of the phenotypic variance, and showed dominant or partial dominant effects. Under well-watered condition, four QTLs controlling grain yield were identified on chromosomes 3, 6 and 7, while five QTLs were identified under drought stress on chromosomes 1, 2, 4 and 8. The gene action was of additive or partial dominant effects, and each QTL could explain 7.3% to 22.0% of the phenotypic variance, respectively. Under drought conditions, ASI and ear setting percentage were highly correlated with grain yield, which can be used as secondary traits for grain yield selection. Based on linked markers detected and gene action analyzed, an MAS strategy for yield improvement under drought condition could be established, which consists of QTLs contributing to decreased ASI and to increased ear setting and grain yield, respectively.

ADAMTS-7基因rs3825807及rs1994016位点多态性与KD发病及CAL的关联性分析

目的分析ADAMTS-7基因rs3825807、rs1994016位点多态性与川崎病(KD)发病及其冠状动脉损伤(CAL)是否存在关联性。方法选取KD患儿100例为KD组,健康体检儿童100例为健康组。提取两组外周血DNA进行基因测序,比较两组ADAMTS-7基因rs3825807位点及rs1994016位点的多态性差异。KD组根据是否存在冠状动脉损伤分为冠状动脉损伤组(KD-CAL组)和无冠状动脉损伤组(KD-NCAL组),比较两组ADAMTS-7基因rs3825807位点及rs1994016位点的多态性差异。结果KD组与健康组比较,KD-NCAL组与KD-CAL组比较,ADAMTS-7基因rs3825807位点A、G等位基因频率和AA、AG、GG基因型频率以及rs1994016位点C、T等位基因频率和CC、CT、TT基因型频率差异均无统计学意义(P>0.05)。结论ADAMTS-7基因rs3825807、rs1994016位点多态性与KD的发病及CAL不存在明显关联性。

用于玉米品种真实性鉴定的最优核心SNP位点集的研发

品种真实性是种子质量监测的一个重要指标。为建立准确可靠、快速简便、高通量、低成本的玉米品种真实性鉴定技术,本文利用200个核心SNP位点构建的5816个玉米杂交品种,3274个自交系的指纹数据,基于遗传算法、品种识别率评估确定了一套高鉴别力的核心SNP位点集,包含96个SNP位点。这96个SNPs全部位于基因内区域,相对均匀分布在10对染色体上。采用上述杂交品种和自交系的指纹数据评估显示这96个位点具有较高多态性和品种区分能力,PIC、MAF、DP平均值分别为0.36、0.40、0.60和0.36、0.39、0.48,对杂交品种、自交系的品种识别率达到99.14%和99.24%。两两样品成对比较结果显示,99.99%的品种间差异位点数目≥3个,杂交品种和自交系中96.74%和95.67%的成对比较差异位点数目集中在30~65个和30~60个。基于221个主推杂交品种的40个SSR位点、96个SNP位点的基因型数据分析结果显示,这2组标记集的鉴定结果具有较高的一致性。综上所述,本研究报道了一套具有位点数量最少、区分能力最强,兼容多平台、适于自动化分型等优点的最优核心SNP集。期望位点集将在玉米品种真实性监测、种子质量控制中得到广泛应用,进而维护玉米种子市场秩序、保障育种者权利以及保护农民利益。