Objective To characterize a novel frameshift mutation of the epithelial sodium channel(ENaC)βsubunit in a Chinese family with clinical suspicion of Liddle syndrome.And to emphasize that genetic testing is a confirmat...Objective To characterize a novel frameshift mutation of the epithelial sodium channel(ENaC)βsubunit in a Chinese family with clinical suspicion of Liddle syndrome.And to emphasize that genetic testing is a confirmatory evidence of the diagnosis of Liddle syndrome.Methods DNA samples from the proband with early-onset,treatment-resistant hypertension and hypokalemia and 31 additional relatives were all sequenced for mutations in exon 13 of theβ-ENaC andγ-ENaC genes,using amplification by polymerase chain reaction and direct DNA sequencing.展开更多
为研究豆科作物结瘤自我调节机制(autoregulation of nodulation, AON)的作用机理,运用CRISPR-Cas9基因编辑技术创制大豆品种华春6号超结瘤gmnark突变体,设计3条靶向目的基因GmNARK的特异sgRNA,构建CRISPR-Cas9敲除载体。通过毛根转化...为研究豆科作物结瘤自我调节机制(autoregulation of nodulation, AON)的作用机理,运用CRISPR-Cas9基因编辑技术创制大豆品种华春6号超结瘤gmnark突变体,设计3条靶向目的基因GmNARK的特异sgRNA,构建CRISPR-Cas9敲除载体。通过毛根转化试验选取sgRNA-B和sgRNA-C两条编辑效率较高的sgRNA用于大豆稳定转化,在T1代筛选出8种不同突变类型的突变体,在T2代通过营养液水培试验证明其中5种突变体有超结瘤的表型。选取gmnark-A突变体作进一步表型分析,发现其具有超结瘤、植株矮小和叶片深绿的表型。本研究所创制的gmnark突变体是研究AON途径作用机制与根瘤发育的重要遗传材料,同时此新种质资源具有作为"绿肥"与其它作物进行间作或轮作的巨大潜力。展开更多
文摘Objective To characterize a novel frameshift mutation of the epithelial sodium channel(ENaC)βsubunit in a Chinese family with clinical suspicion of Liddle syndrome.And to emphasize that genetic testing is a confirmatory evidence of the diagnosis of Liddle syndrome.Methods DNA samples from the proband with early-onset,treatment-resistant hypertension and hypokalemia and 31 additional relatives were all sequenced for mutations in exon 13 of theβ-ENaC andγ-ENaC genes,using amplification by polymerase chain reaction and direct DNA sequencing.
文摘为研究豆科作物结瘤自我调节机制(autoregulation of nodulation, AON)的作用机理,运用CRISPR-Cas9基因编辑技术创制大豆品种华春6号超结瘤gmnark突变体,设计3条靶向目的基因GmNARK的特异sgRNA,构建CRISPR-Cas9敲除载体。通过毛根转化试验选取sgRNA-B和sgRNA-C两条编辑效率较高的sgRNA用于大豆稳定转化,在T1代筛选出8种不同突变类型的突变体,在T2代通过营养液水培试验证明其中5种突变体有超结瘤的表型。选取gmnark-A突变体作进一步表型分析,发现其具有超结瘤、植株矮小和叶片深绿的表型。本研究所创制的gmnark突变体是研究AON途径作用机制与根瘤发育的重要遗传材料,同时此新种质资源具有作为"绿肥"与其它作物进行间作或轮作的巨大潜力。
