A mosquito strain of Aedes albopictus, HAmAal^G0, from Huntsville, Alabama, USA, showed a normal susceptibility and low tolerance to permethrin and resmethrin （pyrethroid insecticides） compared to a susceptible Ikak...A mosquito strain of Aedes albopictus, HAmAal^G0, from Huntsville, Alabama, USA, showed a normal susceptibility and low tolerance to permethrin and resmethrin （pyrethroid insecticides） compared to a susceptible Ikaken strain, even though these pyrethroid insecticides have been used in the field for a long period of time in Alabama. Recently, we treated HAmAal^G0 in the laboratory with permethrin for five generations and detected no significant change in the level of resistance to permethrin in the selected mosquitoes, HAmAal^G0, compared with the parental strain HAmAal^G0. We then examined the allelic expression at the L-to-F kdr site of the sodium channel gene in the Aedes mosquitoes to address our hypothesis that the L-to-F kdr mutation was not present in HAmAal^G0 and HAmAal^G5 mosquitoes. We found that every tested individual in Ikaken, HAmAal^G5, and HAmAal^G5 populations expressed a codon of CTA at the L-to-F kdr site encoding Leu, strongly corresponding to their susceptibility to insecticides.展开更多
Dravet syndrome is a rare epileptic encephalopathy characterized by frequent seizures beginning in the first year of life and behavioral disorders. Mutations in the sodium channel α1 subunit gene are the main cause o...Dravet syndrome is a rare epileptic encephalopathy characterized by frequent seizures beginning in the first year of life and behavioral disorders. Mutations in the sodium channel α1 subunit gene are the main cause of this disease. We report two patients with refractory seizures and psychomotor retardation in whom the final diagnosis was Dravet syndrome with confirmed mutations in the sodium channel α1 subunit gene. The mutation identified in the second patient was a novel frame shift mutation, which resulted from the deletion of five nucleotides in exon 24.展开更多
目的构建表型重叠家系相关基因SCN5A del QKP1507-1509突变型真核表达载体,研究其在H9C2细胞中的表达。方法一步法定点诱变技术构建SCN5A基因del QKP1507-1509突变型真核表达载体,电穿孔方法将野生型和突变型质粒转染至H9C2细胞,应用实...目的构建表型重叠家系相关基因SCN5A del QKP1507-1509突变型真核表达载体,研究其在H9C2细胞中的表达。方法一步法定点诱变技术构建SCN5A基因del QKP1507-1509突变型真核表达载体,电穿孔方法将野生型和突变型质粒转染至H9C2细胞,应用实时荧光定量聚合酶链反应(RFQ-PCR)及Western blot技术检测其mRNA及蛋白表达情况。结果琼脂糖凝胶电泳法及DNA直接测序法均表明定点突变成功,RFQ-PCR及Western blot结果显示,野生组、突变组和混合组SCN5A基因mRNA相对表达量分别为1.089±0.459、1.011±0.840和1.069±0.492,3组SCN5A基因mRNA相对表达量比较差异无统计学意义(P>0.05)。野生组、突变组和混合组SCN5A蛋白在H9C2细胞的相对表达量分别为3.781±0.221、3.466±0.176和3.714±0.198,3组SCN5A蛋白相对表达量比较差异无统计学意义(P>0.05)。结论成功构建钠通道基因del QKP1507-1509突变型真核表达载体并转染至H9C2细胞,该突变未引起钠通道在细胞膜的异常表达,为进一步功能研究提供了研究基础及方向。展开更多
文摘A mosquito strain of Aedes albopictus, HAmAal^G0, from Huntsville, Alabama, USA, showed a normal susceptibility and low tolerance to permethrin and resmethrin （pyrethroid insecticides） compared to a susceptible Ikaken strain, even though these pyrethroid insecticides have been used in the field for a long period of time in Alabama. Recently, we treated HAmAal^G0 in the laboratory with permethrin for five generations and detected no significant change in the level of resistance to permethrin in the selected mosquitoes, HAmAal^G0, compared with the parental strain HAmAal^G0. We then examined the allelic expression at the L-to-F kdr site of the sodium channel gene in the Aedes mosquitoes to address our hypothesis that the L-to-F kdr mutation was not present in HAmAal^G0 and HAmAal^G5 mosquitoes. We found that every tested individual in Ikaken, HAmAal^G5, and HAmAal^G5 populations expressed a codon of CTA at the L-to-F kdr site encoding Leu, strongly corresponding to their susceptibility to insecticides.
文摘Dravet syndrome is a rare epileptic encephalopathy characterized by frequent seizures beginning in the first year of life and behavioral disorders. Mutations in the sodium channel α1 subunit gene are the main cause of this disease. We report two patients with refractory seizures and psychomotor retardation in whom the final diagnosis was Dravet syndrome with confirmed mutations in the sodium channel α1 subunit gene. The mutation identified in the second patient was a novel frame shift mutation, which resulted from the deletion of five nucleotides in exon 24.
