植物代谢物是人类食物和营养物质的重要来源。代谢组学是对生物体内代谢物进行定量和定性分析,研究代谢物合成和调控机制的一门新兴学科。基于代谢组的全基因组关联分析(metabolome-based genome-wide association study,mGWAS)是将代...植物代谢物是人类食物和营养物质的重要来源。代谢组学是对生物体内代谢物进行定量和定性分析,研究代谢物合成和调控机制的一门新兴学科。基于代谢组的全基因组关联分析(metabolome-based genome-wide association study,mGWAS)是将代谢组数据作为表型,与基因型数据进行关联分析的一种方法。概述了近几年利用mGWAS技术在植物代谢调控网络研究、初生和次生代谢物的形成机制、代谢物在植物生长发育和胁迫应答中的作用,同时综述了mGWAS在代谢物相关候选基因的定位和调控营养、品质相关代谢通路的挖掘,为深入了解植物代谢物合成调控的遗传机制奠定基础。展开更多
Background: The vulvovaginal gingival syndrome is an uncommon and severe variant of lichen planus characterized by erosions or desquamation of vulval, vaginal, and gingival mucosae with a predilection for scarring and...Background: The vulvovaginal gingival syndrome is an uncommon and severe variant of lichen planus characterized by erosions or desquamation of vulval, vaginal, and gingival mucosae with a predilection for scarring and stricture formation. Objective: We sought to define the clinical, immunopathologic, and human leukocyte antigen findings in a large cohort of patients. Methods: The clinical presentation and outcome during long-term follow-up were documented in 40 patients. In addition, human leukocyte antigen typing for class II by polymerase chain reaction and sequence-specific primers was performed. Results: During a mean follow-up period of 8.7 (SD ± 6.8) years, long-term sequelae included strictures of the esophagus, lachrymal ducts, and external auditory canal; loss of vulval architecture; vaginal stenosis; and buccal mucosal fibrosis. The DQB1 0201 allele was present in 80% of patients versus 41.8% of control subjects (P ≤ .0042; relative risk 3.71). Conclusion: Early diagnosis of this distinct subgroup of lichen planus, combined with appropriate therapeutic measures, may help to minimize the significant physical and psychologic morbidity associated with this scarring disorder.展开更多
维生素E(Ve)是大豆油中一种天然抗氧化剂,是评价大豆油营养价值的重要指标。本研究利用含有264份的大豆自然群体在2021年和2022年测定了籽粒中α-、γ-和δ-生育酚含量,并进行全基因组关联分析(Genome-wide association study,GWAS)。...维生素E(Ve)是大豆油中一种天然抗氧化剂,是评价大豆油营养价值的重要指标。本研究利用含有264份的大豆自然群体在2021年和2022年测定了籽粒中α-、γ-和δ-生育酚含量,并进行全基因组关联分析(Genome-wide association study,GWAS)。本研究共检测到199个与大豆Ve含量显著关联的SNP位点,其中9个可在2个环境或者2个性状被重复检测到,分别位于3号、7号、11号、12号、13号、15号、17号和18号染色体上。其中位于7号染色体上的显著关联信号是控制α-生育酚含量的主效位点,可在2年环境中被检测到,表型变异解释率为9.83%。对该位点候选基因进行筛选,获得一个编码myb转录因子的基因Glyma.07G054000,可能是这个位点的效应基因。另外,在12号染色体上得到2个编码γ-生育酚甲基转移酶的基因Glyma.12G014200和Glyma.12G014300,有可能是影响Ve含量的重要基因。本研究结果有助于解析大豆籽粒Ve含量的遗传基础及其调控机制,为大豆品质遗传改良奠定了基础。展开更多
文摘植物代谢物是人类食物和营养物质的重要来源。代谢组学是对生物体内代谢物进行定量和定性分析,研究代谢物合成和调控机制的一门新兴学科。基于代谢组的全基因组关联分析(metabolome-based genome-wide association study,mGWAS)是将代谢组数据作为表型,与基因型数据进行关联分析的一种方法。概述了近几年利用mGWAS技术在植物代谢调控网络研究、初生和次生代谢物的形成机制、代谢物在植物生长发育和胁迫应答中的作用,同时综述了mGWAS在代谢物相关候选基因的定位和调控营养、品质相关代谢通路的挖掘,为深入了解植物代谢物合成调控的遗传机制奠定基础。
文摘Background: The vulvovaginal gingival syndrome is an uncommon and severe variant of lichen planus characterized by erosions or desquamation of vulval, vaginal, and gingival mucosae with a predilection for scarring and stricture formation. Objective: We sought to define the clinical, immunopathologic, and human leukocyte antigen findings in a large cohort of patients. Methods: The clinical presentation and outcome during long-term follow-up were documented in 40 patients. In addition, human leukocyte antigen typing for class II by polymerase chain reaction and sequence-specific primers was performed. Results: During a mean follow-up period of 8.7 (SD ± 6.8) years, long-term sequelae included strictures of the esophagus, lachrymal ducts, and external auditory canal; loss of vulval architecture; vaginal stenosis; and buccal mucosal fibrosis. The DQB1 0201 allele was present in 80% of patients versus 41.8% of control subjects (P ≤ .0042; relative risk 3.71). Conclusion: Early diagnosis of this distinct subgroup of lichen planus, combined with appropriate therapeutic measures, may help to minimize the significant physical and psychologic morbidity associated with this scarring disorder.
文摘维生素E(Ve)是大豆油中一种天然抗氧化剂,是评价大豆油营养价值的重要指标。本研究利用含有264份的大豆自然群体在2021年和2022年测定了籽粒中α-、γ-和δ-生育酚含量,并进行全基因组关联分析(Genome-wide association study,GWAS)。本研究共检测到199个与大豆Ve含量显著关联的SNP位点,其中9个可在2个环境或者2个性状被重复检测到,分别位于3号、7号、11号、12号、13号、15号、17号和18号染色体上。其中位于7号染色体上的显著关联信号是控制α-生育酚含量的主效位点,可在2年环境中被检测到,表型变异解释率为9.83%。对该位点候选基因进行筛选,获得一个编码myb转录因子的基因Glyma.07G054000,可能是这个位点的效应基因。另外,在12号染色体上得到2个编码γ-生育酚甲基转移酶的基因Glyma.12G014200和Glyma.12G014300,有可能是影响Ve含量的重要基因。本研究结果有助于解析大豆籽粒Ve含量的遗传基础及其调控机制,为大豆品质遗传改良奠定了基础。
