Background Liddle＇s syndrome is a rare autosomal-dominant monogenic form of salt-sensitive hypertension. This study aimed to screen the gene mutation in 13 and y subunits of the epithelial sodium channel （ENaC） of ...Background Liddle＇s syndrome is a rare autosomal-dominant monogenic form of salt-sensitive hypertension. This study aimed to screen the gene mutation in 13 and y subunits of the epithelial sodium channel （ENaC） of a Chinese family with Liddle＇s syndrome, an autosomal dominant form of hypertension. Methods DNA samples from the proband with early-onset, treatment-resistant hypertension and suppressed plasma renin activity were initially screened for mutations in the C-terminal exons of the ENaC 13 or y subunit genes, using amplification by polymerase chain reaction and direct DNA sequencing. We also screened the C-terminus of SCNNIB and SCNNIG in family members, and screened for the mutation in 150 controls. Results Genetic analysis of the 13 ENaC gene revealed a missense mutation of CCC to TCC at codon 616 in the proband, her mother and her grandmother. One hundred and fifty randomly selected controls had not the mutation, indicating that this is not a common genetic polymorphism. There was no mutation of the y ENaC gene in any of the individuals examined. Conclusions Through direct DNA sequencing analysis, we established the diagnosis of Liddle＇s syndrome for the proband and her families, and provided tailored therapies to this abnormality. These results provide further evidence that Pro616Ser is a critical amino acid that has a key role in the inhibition of sodium channel activity.展开更多
文摘【目的】本文旨在获得雨生红球藻中蓝光受体向光素(Phototropin,PHOT)的全长序列并进行生物信息分析。【方法】采用同源克隆和RACE结合的方法获得雨生红球藻中编码HaePHOT的c DNA序列全长,并对HaePHOT进行生物信息分析。【结果】HaePHOT的开放阅读框全长为2139 bp,编码712个氨基酸,预测的等电点8.66,理论分子量78.73 k D。经BLASTP程序分析,与拟南芥来源PHOT的相似性达到58%,与莱茵衣藻来源PHOT的相似性达到68%。通过序列比对和结构域分析,PHOT蛋白的典型结构域存在于HaePHOT中,包括发色团结合和激酶结构域。系统进化分析表明,高等植物和真核绿藻来源PHOTs来自共同祖先。【结论】首次从雨生红球藻中获得编码PHOT的基因序列,为下一步雨生红球藻中PHOT的表达和功能研究奠定基础,同时为解析蓝光调控雨生红球藻虾青素合成的分子机制提供线索。
文摘Background Liddle＇s syndrome is a rare autosomal-dominant monogenic form of salt-sensitive hypertension. This study aimed to screen the gene mutation in 13 and y subunits of the epithelial sodium channel （ENaC） of a Chinese family with Liddle＇s syndrome, an autosomal dominant form of hypertension. Methods DNA samples from the proband with early-onset, treatment-resistant hypertension and suppressed plasma renin activity were initially screened for mutations in the C-terminal exons of the ENaC 13 or y subunit genes, using amplification by polymerase chain reaction and direct DNA sequencing. We also screened the C-terminus of SCNNIB and SCNNIG in family members, and screened for the mutation in 150 controls. Results Genetic analysis of the 13 ENaC gene revealed a missense mutation of CCC to TCC at codon 616 in the proband, her mother and her grandmother. One hundred and fifty randomly selected controls had not the mutation, indicating that this is not a common genetic polymorphism. There was no mutation of the y ENaC gene in any of the individuals examined. Conclusions Through direct DNA sequencing analysis, we established the diagnosis of Liddle＇s syndrome for the proband and her families, and provided tailored therapies to this abnormality. These results provide further evidence that Pro616Ser is a critical amino acid that has a key role in the inhibition of sodium channel activity.
