Objective： To investigate the gene polymorphism in a pedigree of congenital monilethrix. Methods： Genomic DNA of affected members, the normal members of the pedigree and 50 unrelated normal members who came from dif...Objective： To investigate the gene polymorphism in a pedigree of congenital monilethrix. Methods： Genomic DNA of affected members, the normal members of the pedigree and 50 unrelated normal members who came from different regions were extracted with a whole blood genomic DNA extraction kit and used as a template for the polymerase chain reaction （PCR）-mediated amplification of hHB1 and hHB6 genes. Results： In the pedigree, DNA analysis of patients and normal persons revealed C（447th） in exonl of hHB1 gene and the 52th codon was CCA encoding arginine. But it was a heteropeak of O or C in 50 unrelated normal members, which encodes glycine or arginine. It showed that this change was a single nucleotide polymorphisms （SNP）. Conclusion： A genetic heterogeneity of monilethrix exists in Chinese population. SNP which can result in the change of amino acid sequence is found in a pedigree of congenital monilethrix, and a genetic heterogeneity of monilethrix existed in Chinese population.展开更多
Monilethrix, a congenital disease of hair, is usually associated with mutations in keratin genes, like KRT81, KRT83 and KRT86. We conducted this study to investigate the mutation of type Ⅱ human basic hair keratin hH...Monilethrix, a congenital disease of hair, is usually associated with mutations in keratin genes, like KRT81, KRT83 and KRT86. We conducted this study to investigate the mutation of type Ⅱ human basic hair keratin hHb/ KRT gene in a Han family with monilethrix and obtain information for potential pathogenic mechanism study of monilethrix. Peripheral blood samples were drawn for genomic DNA detection. Exon 1 and exon 7 of the KRT81, KRT83 and KRT86 genes were amplified by PCR. All PCR products were sequenced directly using an ABI 310 DNA sequencer. These sequences were aligned with the standard sequences in GenBank using the BLAST software. PCR products were digested with restriction endonuclease and restriction fragment length polymorphism （RFLP） analysis was performed. In this study, we identified one novel mutation, which is a heterozygous transitional mutation of G→A at position 1,289 in exon 7 of the KRT86 gene [R430Q （KRT86）]. RFLP assays for the novel mutation excluded the possibility of polymorphism. The R430Q mutation of the KRT86 gene may be pathogenic for monilethrix. Meanwhile, we did not find any novel mutation or recurrent mutation in exons 1 and 7 of KRT81 and KRT83 and exon 1 of KRT86. There is a potential pathogenic gene in the subjects and our results expand the spectrum of mutations in the hHb6 gene.展开更多
In order to solve the coupling problem of power in Hydraulic Hybrid City Bus (HHB), a hydraulic hybrid power coupling system based on planetary gear transmission principle is proposed in this paper. The system consist...In order to solve the coupling problem of power in Hydraulic Hybrid City Bus (HHB), a hydraulic hybrid power coupling system based on planetary gear transmission principle is proposed in this paper. The system consists of diesel engine, power coupler, hydraulic pump/motor, etc. The realizable operating modes of power coupling system are analyzed in this paper. Under coordination of clutches, the engine driven mode, hydraulic driven mode, hybrid driven mode, hydraulic engine-start mode and braking energy recovery mode are realizable. Based on Lagrange equation, kinetic analysis and kinematics analyses are presented. In addition, the simulation model of the power coupling system is proposed, which includes diesel engine model, power coupler model, hydraulic pump/motor model, etc. The example simulation analysis is proposed under the hybrid driven mode;the results show that the power coupling system proposed in this paper can realize power coupling of hydraulic hybrid city bus. Compared with traditional city bus, the hydraulic hybrid city bus can choose small-displacement engine so as to improve fuel economy and dynamic property.展开更多
The use of overhead lines for power transmission in the future high-voltage and large-capacity voltagesource converter(VSC)-based direct current(DC) grid will significantly increase the probability of temporary faults...The use of overhead lines for power transmission in the future high-voltage and large-capacity voltagesource converter(VSC)-based direct current(DC) grid will significantly increase the probability of temporary faults.To eliminate potential adverse impacts such as erroneous protection, line-insulation failure, and even damage to power electronic devices resulting from a DC breaker reclosing operation with the traditional sequential autoreclosing strategy, a new sequential auto-reclosing strat-egy for hybrid HVDC breakers(HHBs) in VSC-based DC grids is proposed. This strategy is based on the step-by-step operation of the transfer branch in the HHB. As a result,du/dt resulting from the HHB reclosing operation is greatly reduced, and therefore those potential negative impacts can be eliminated. Several other advantages are also presented.The feasibility and validity of the proposed strategy are verified in a four-terminal annular VSC-based DC grid electromagnetic transient model.展开更多
文摘Objective： To investigate the gene polymorphism in a pedigree of congenital monilethrix. Methods： Genomic DNA of affected members, the normal members of the pedigree and 50 unrelated normal members who came from different regions were extracted with a whole blood genomic DNA extraction kit and used as a template for the polymerase chain reaction （PCR）-mediated amplification of hHB1 and hHB6 genes. Results： In the pedigree, DNA analysis of patients and normal persons revealed C（447th） in exonl of hHB1 gene and the 52th codon was CCA encoding arginine. But it was a heteropeak of O or C in 50 unrelated normal members, which encodes glycine or arginine. It showed that this change was a single nucleotide polymorphisms （SNP）. Conclusion： A genetic heterogeneity of monilethrix exists in Chinese population. SNP which can result in the change of amino acid sequence is found in a pedigree of congenital monilethrix, and a genetic heterogeneity of monilethrix existed in Chinese population.
基金supported by the National Natural Science Foundation of China (No. 30771947)Provincal Natural Science Foundation of Jiangsu (No. BK2007248)
文摘Monilethrix, a congenital disease of hair, is usually associated with mutations in keratin genes, like KRT81, KRT83 and KRT86. We conducted this study to investigate the mutation of type Ⅱ human basic hair keratin hHb/ KRT gene in a Han family with monilethrix and obtain information for potential pathogenic mechanism study of monilethrix. Peripheral blood samples were drawn for genomic DNA detection. Exon 1 and exon 7 of the KRT81, KRT83 and KRT86 genes were amplified by PCR. All PCR products were sequenced directly using an ABI 310 DNA sequencer. These sequences were aligned with the standard sequences in GenBank using the BLAST software. PCR products were digested with restriction endonuclease and restriction fragment length polymorphism （RFLP） analysis was performed. In this study, we identified one novel mutation, which is a heterozygous transitional mutation of G→A at position 1,289 in exon 7 of the KRT86 gene [R430Q （KRT86）]. RFLP assays for the novel mutation excluded the possibility of polymorphism. The R430Q mutation of the KRT86 gene may be pathogenic for monilethrix. Meanwhile, we did not find any novel mutation or recurrent mutation in exons 1 and 7 of KRT81 and KRT83 and exon 1 of KRT86. There is a potential pathogenic gene in the subjects and our results expand the spectrum of mutations in the hHb6 gene.
文摘In order to solve the coupling problem of power in Hydraulic Hybrid City Bus (HHB), a hydraulic hybrid power coupling system based on planetary gear transmission principle is proposed in this paper. The system consists of diesel engine, power coupler, hydraulic pump/motor, etc. The realizable operating modes of power coupling system are analyzed in this paper. Under coordination of clutches, the engine driven mode, hydraulic driven mode, hybrid driven mode, hydraulic engine-start mode and braking energy recovery mode are realizable. Based on Lagrange equation, kinetic analysis and kinematics analyses are presented. In addition, the simulation model of the power coupling system is proposed, which includes diesel engine model, power coupler model, hydraulic pump/motor model, etc. The example simulation analysis is proposed under the hybrid driven mode;the results show that the power coupling system proposed in this paper can realize power coupling of hydraulic hybrid city bus. Compared with traditional city bus, the hydraulic hybrid city bus can choose small-displacement engine so as to improve fuel economy and dynamic property.
基金supported by National Key R&D Program of China (No. 2017YFB0902400)
文摘The use of overhead lines for power transmission in the future high-voltage and large-capacity voltagesource converter(VSC)-based direct current(DC) grid will significantly increase the probability of temporary faults.To eliminate potential adverse impacts such as erroneous protection, line-insulation failure, and even damage to power electronic devices resulting from a DC breaker reclosing operation with the traditional sequential autoreclosing strategy, a new sequential auto-reclosing strat-egy for hybrid HVDC breakers(HHBs) in VSC-based DC grids is proposed. This strategy is based on the step-by-step operation of the transfer branch in the HHB. As a result,du/dt resulting from the HHB reclosing operation is greatly reduced, and therefore those potential negative impacts can be eliminated. Several other advantages are also presented.The feasibility and validity of the proposed strategy are verified in a four-terminal annular VSC-based DC grid electromagnetic transient model.
