Objective: To explore the role of transcription-coupled repair (TCR) pathway in the UVC-induced SupF gene mutation in Tet-on 293 cell line, we designed and constructed a Tet-responsive plasmid DNA pTCR-C1, and util...Objective: To explore the role of transcription-coupled repair (TCR) pathway in the UVC-induced SupF gene mutation in Tet-on 293 cell line, we designed and constructed a Tet-responsive plasmid DNA pTCR-C1, and utilized this pTCR-C 1 plasmid to obtain the mutation frequency of SupF reporter gene induced by UVC in Tet-on 293 cell line. Methods: SupF gene was cloned into a Tet-responsive plamid pBI-L, which include a bidirectional Tet-responsive promoter, and was named pTCR-C1. The pTCR-C1 plasmid was transfected into Tet-on 293 cell line, and the mutation frequency of SupF reporter gene was detected in the presence and absence of DOX. Results: The pTCR-C1 plasmid was identified with the methods of restriction digestion and DNA sequencing. The mutation frequency of SupF reporter gene in the presence of DOX was higher than in the absence of DOX. Conclusion: The TCR pathway takes part in the UVC-induced SupF gene mutation in Tet-on 293 cell line.展开更多
AIM:To identify the frequency of iron overload and study the three mutations in the HFE gene (C282Y,H63D,and S65C) in patients with chronic liver disorders (CLD) and controls. METHODS:To identify patients with iron ov...AIM:To identify the frequency of iron overload and study the three mutations in the HFE gene (C282Y,H63D,and S65C) in patients with chronic liver disorders (CLD) and controls. METHODS:To identify patients with iron overload (transferrin saturation > 45% in females and > 50% in males and serum ferritin > 1000 ng/mL) we evaluated 236 patients with CLD,including 59 with non-alcoholic steatohepatitis (NASH),22 with alcoholic liver disease (ALD),19 of cirrhosis due to viruses (HBV,HCV),and 136 with cryptogenic cirrhosis. Mutations of the HFE gene were analyzed by PCR-RE. hundred controls were screened for iron status and the mutations. RESULTS:Seventeen patients with CLD showed evidence of iron overload. Fifteen cases of iron overload had cryptogenic cirrhosis and two had ALD. None of the controls showed iron overload. We did not find any individual with 282Y or 65C either in the cases or in the controls. The prevalence of H63D heterozygosity was 12% in normal individuals,14.8% in 236 patients (16.9% in NASH,13.6% in ALD,26.3% in viral and 12.5% in cryptogenic cirrhosis) and the overall prevalence was 13.98%. Only two of the 17 patients with primary iron overload were heterozygous for H63D. One patient with NASH and one normal individual who were homozygous for H63D showed no iron overload.CONCLUSION:Primary iron overload in Indians is nonHFE type,which is different from that in Europeans and further molecular studies are required to determine the defect in various iron regulatory genes.展开更多
Objective To evaluate the frequencies and polymorphisms of CCR5-△32,CCR2-641 and SDF1-3'A alleles conferring resistance to HIV-1 infection in Chinese population from Han ethnic origin.Methods This cohort was comp...Objective To evaluate the frequencies and polymorphisms of CCR5-△32,CCR2-641 and SDF1-3'A alleles conferring resistance to HIV-1 infection in Chinese population from Han ethnic origin.Methods This cohort was comprised of 1251 subjects(915 men and 336 women)aged 15 -80 years and none was HIV-1 positive.Genotyping of allelic CCR5-△32,CCR2-641 and SDF1-3' A variants was performed using PCR or PCR/RFLP assay,and further confirmed by direct DNA sequencing.Results Our finding shows that the△32 deletion mutation in the CCR5 gene does occur in this population and can be inherited in a Mendelian fashion in indigenous Han Chinese at a very low frequency of 0.00119(n= 1254).The frequencies of mutant CCR2-641 and SDF1-3'A alleles were 0.20023(n = 1251)and 0.2873(n = 893),in this population,which are higher than those found in American Caucasians.Furthermore the polymorphisms of CCR2-641 and SDF1-3' A alleles in the Han Chinese population were different from those in American Caucasians.Statistical analysis showed that the genotype distribution of CCR5-△32,CCR2-641 and SDF1-3' A alleles was in equilibrium according to the Hardy-Weinberg equation.Conclusion The CCR5-△32 mutation may not be a major resistant factor against HIV-1 infection in indigenous Han Chinese.The significance of higher frequencies of CCR2-641 and SDF1-3' A alleles (0.20023 and 0.2791)in the Han population remains to be clarified in HIV-1-positive carriers and AIDS patients.展开更多
Our aim is to examine the impact of DICER1 mutations on the pathogenesis of pleuropulmonary blastoma(PPB) by evaluating the mutation frequency and investigating the family history of Chinese patients with PPB. The fam...Our aim is to examine the impact of DICER1 mutations on the pathogenesis of pleuropulmonary blastoma(PPB) by evaluating the mutation frequency and investigating the family history of Chinese patients with PPB. The family histories of 12 children with PPB recruited consecutively were surveyed. Blood samples from patients and their first-degree relatives were tested for DICER1 mutations. Whole-genome sequencing of blood samples and formalin-fixed and paraffin-embedded(FFPE) tumor tissue was performed in one family with twins. Twelve patients with PPB included six type II and six type III cases. Seven of the12 patients harbored DICER1 mutations, six of which were frameshift or nonsense mutations. Another case carried a germline DICER1 mutation affecting the splice site. FFPE sample had a nonsense mutation in TDG and missense mutations in DICER1.In addition, two cases with DICER1 mutations were found to have lung cysts preceding the diagnosis of PPB. Furthermore, one patient had a family history remarkable for thyroid diseases. Our results indicate that the germline mutation frequency in Chinese patients with PPB is similar to the ones reported for patients from USA, UK, and Japan. Moreover, our study strongly suggests that investigating the family history and detecting germline DICER1 mutations might be of benefit to increasing awareness and improving the accuracy of the differential diagnosis of PPB from non-malignant lung cysts.展开更多
In order to suppress the fast decrease of the transfer efficiency of magnetic resonance coupled wireless power transfer system(MRCWPTS) with distance increase,this paper investigates the impact factors of the system t...In order to suppress the fast decrease of the transfer efficiency of magnetic resonance coupled wireless power transfer system(MRCWPTS) with distance increase,this paper investigates the impact factors of the system transfer efficiency and is,then formulates a new efficiency optimal control method based on frequency control.Based upon this control method two optimal control schemes are designed to achieve transfer efficiency control of the system.Simulations and experiments show that the proposed efficiency optimal control method can effectively stabilize the system transfer efficiency in a certain range so as to successfully solve the subtle issue of transfer efficiency variation with distance.展开更多
Ultrasonic backscatter signals from cancellous bone are sensitive to the microstructure of trabecular bone,and thus enable the feasibility to extract microstructural information of trabecular bone.The mean trabecular ...Ultrasonic backscatter signals from cancellous bone are sensitive to the microstructure of trabecular bone,and thus enable the feasibility to extract microstructural information of trabecular bone.The mean trabecular bone spacing(MTBS)is an important parameter for characterizing bone microstructure.This paper proposes an MTBS estimation method based on the combination of Hilbert transform and fundamental frequency estimation(CHF). The CHF was verified with ultrasonic backscatter signals from simulations and in vitro measurements at a central frequency of 5MHz.The CHF method was compared with the simplified inverse filter tracking(SIFT)method,Simons' Quadratic Transformation(QT)method,Singular Spectrum Analysis(SSA)method,and Spectral Autocorrelation(SAC)method.Monte-Carlo simulations were performed by varying the MTBS,signal-to-noise ratio(SNR),standard deviation of regular spacing(SDRS),amplitude ratio of diffuse scattering to regular scattering(Ad)and frequency dependent attenuation(nBUA).The simulation results showed that the CHF method had a better performance in MTBS estimation under almost all the examination conditions except for SNR.The estimation percentage correct(EPC)was greater than 90% when the MTBS was in the range of 0.4to 1.4mm.In the in vitro measurements,the estimated EPC by the CHF method was91.25±7.81%(mean±standard deviation).A significant correlation was observed for the CHF-estimated MTBS and micro-computed tomography(μ-CT)-measured values(R^2=0.75,p<0.01).These results demonstrate that the CHF method is anti-interference for MTBS estimation and can be used to estimate trabecular bone spacing.展开更多
The availability of a large number of sequenced bacterial genomes facilitates in-depth studies about why genes(operons)in a bacterial genome are globally organized the way they are.We have previously discovered that(t...The availability of a large number of sequenced bacterial genomes facilitates in-depth studies about why genes(operons)in a bacterial genome are globally organized the way they are.We have previously discovered that(the relative)transcription-activation frequencies among different biological pathways encoded in a genome have a dominating role in the global arrangement of operons.One complicating factor in such a study is that some operons may be involved in multiple pathways with different activation frequencies.A quantitative model has been developed that captures this information,which tends to be minimized by the current global arrangement of operons in a bacterial(and archaeal)genome compared to possible alternative arrangements.A study is carried out here using this model on a collection of 52 closely related Escherichia coli genomes,which revealed interesting new insights about how bacterial genomes evolve to optimally adapt to their environments through adjusting the(relative)genomic locations of the encoding operons of biological pathways once their utilization and hence transcription activation frequencies change,to maintain the above energy-efficiency property.More specifically we observed that it is the frequencies of the transcription activation of pathways relative to those of the other encoded pathways in an organism as well as the variation in the activation frequencies of a specific pathway across the related genomes that play a key role in the observed commonalities and differences in the genomic organizations of genes(and operons)encoding specific pathways across different genomes.展开更多
基金the National Natural Science Foundation of China(30471958)the Natural Science Foundation of Chongqing(No.2006BB5045)
文摘Objective: To explore the role of transcription-coupled repair (TCR) pathway in the UVC-induced SupF gene mutation in Tet-on 293 cell line, we designed and constructed a Tet-responsive plasmid DNA pTCR-C1, and utilized this pTCR-C 1 plasmid to obtain the mutation frequency of SupF reporter gene induced by UVC in Tet-on 293 cell line. Methods: SupF gene was cloned into a Tet-responsive plamid pBI-L, which include a bidirectional Tet-responsive promoter, and was named pTCR-C1. The pTCR-C1 plasmid was transfected into Tet-on 293 cell line, and the mutation frequency of SupF reporter gene was detected in the presence and absence of DOX. Results: The pTCR-C1 plasmid was identified with the methods of restriction digestion and DNA sequencing. The mutation frequency of SupF reporter gene in the presence of DOX was higher than in the absence of DOX. Conclusion: The TCR pathway takes part in the UVC-induced SupF gene mutation in Tet-on 293 cell line.
基金a grant from the Department of Biotechnology, India
文摘AIM:To identify the frequency of iron overload and study the three mutations in the HFE gene (C282Y,H63D,and S65C) in patients with chronic liver disorders (CLD) and controls. METHODS:To identify patients with iron overload (transferrin saturation > 45% in females and > 50% in males and serum ferritin > 1000 ng/mL) we evaluated 236 patients with CLD,including 59 with non-alcoholic steatohepatitis (NASH),22 with alcoholic liver disease (ALD),19 of cirrhosis due to viruses (HBV,HCV),and 136 with cryptogenic cirrhosis. Mutations of the HFE gene were analyzed by PCR-RE. hundred controls were screened for iron status and the mutations. RESULTS:Seventeen patients with CLD showed evidence of iron overload. Fifteen cases of iron overload had cryptogenic cirrhosis and two had ALD. None of the controls showed iron overload. We did not find any individual with 282Y or 65C either in the cases or in the controls. The prevalence of H63D heterozygosity was 12% in normal individuals,14.8% in 236 patients (16.9% in NASH,13.6% in ALD,26.3% in viral and 12.5% in cryptogenic cirrhosis) and the overall prevalence was 13.98%. Only two of the 17 patients with primary iron overload were heterozygous for H63D. One patient with NASH and one normal individual who were homozygous for H63D showed no iron overload.CONCLUSION:Primary iron overload in Indians is nonHFE type,which is different from that in Europeans and further molecular studies are required to determine the defect in various iron regulatory genes.
基金ThisprojectwassupportedbyagrantfromNationalNaturalSciencesFoundationofthePRChina (No 3 9770 683 )
文摘Objective To evaluate the frequencies and polymorphisms of CCR5-△32,CCR2-641 and SDF1-3'A alleles conferring resistance to HIV-1 infection in Chinese population from Han ethnic origin.Methods This cohort was comprised of 1251 subjects(915 men and 336 women)aged 15 -80 years and none was HIV-1 positive.Genotyping of allelic CCR5-△32,CCR2-641 and SDF1-3' A variants was performed using PCR or PCR/RFLP assay,and further confirmed by direct DNA sequencing.Results Our finding shows that the△32 deletion mutation in the CCR5 gene does occur in this population and can be inherited in a Mendelian fashion in indigenous Han Chinese at a very low frequency of 0.00119(n= 1254).The frequencies of mutant CCR2-641 and SDF1-3'A alleles were 0.20023(n = 1251)and 0.2873(n = 893),in this population,which are higher than those found in American Caucasians.Furthermore the polymorphisms of CCR2-641 and SDF1-3' A alleles in the Han Chinese population were different from those in American Caucasians.Statistical analysis showed that the genotype distribution of CCR5-△32,CCR2-641 and SDF1-3' A alleles was in equilibrium according to the Hardy-Weinberg equation.Conclusion The CCR5-△32 mutation may not be a major resistant factor against HIV-1 infection in indigenous Han Chinese.The significance of higher frequencies of CCR2-641 and SDF1-3' A alleles (0.20023 and 0.2791)in the Han population remains to be clarified in HIV-1-positive carriers and AIDS patients.
基金supported by the Beijing Training Plan of TOP-notch Personnel (CIT&TCD201304189)
文摘Our aim is to examine the impact of DICER1 mutations on the pathogenesis of pleuropulmonary blastoma(PPB) by evaluating the mutation frequency and investigating the family history of Chinese patients with PPB. The family histories of 12 children with PPB recruited consecutively were surveyed. Blood samples from patients and their first-degree relatives were tested for DICER1 mutations. Whole-genome sequencing of blood samples and formalin-fixed and paraffin-embedded(FFPE) tumor tissue was performed in one family with twins. Twelve patients with PPB included six type II and six type III cases. Seven of the12 patients harbored DICER1 mutations, six of which were frameshift or nonsense mutations. Another case carried a germline DICER1 mutation affecting the splice site. FFPE sample had a nonsense mutation in TDG and missense mutations in DICER1.In addition, two cases with DICER1 mutations were found to have lung cysts preceding the diagnosis of PPB. Furthermore, one patient had a family history remarkable for thyroid diseases. Our results indicate that the germline mutation frequency in Chinese patients with PPB is similar to the ones reported for patients from USA, UK, and Japan. Moreover, our study strongly suggests that investigating the family history and detecting germline DICER1 mutations might be of benefit to increasing awareness and improving the accuracy of the differential diagnosis of PPB from non-malignant lung cysts.
文摘In order to suppress the fast decrease of the transfer efficiency of magnetic resonance coupled wireless power transfer system(MRCWPTS) with distance increase,this paper investigates the impact factors of the system transfer efficiency and is,then formulates a new efficiency optimal control method based on frequency control.Based upon this control method two optimal control schemes are designed to achieve transfer efficiency control of the system.Simulations and experiments show that the proposed efficiency optimal control method can effectively stabilize the system transfer efficiency in a certain range so as to successfully solve the subtle issue of transfer efficiency variation with distance.
基金supported by the NSFC(11327405,11504057&11525416)
文摘Ultrasonic backscatter signals from cancellous bone are sensitive to the microstructure of trabecular bone,and thus enable the feasibility to extract microstructural information of trabecular bone.The mean trabecular bone spacing(MTBS)is an important parameter for characterizing bone microstructure.This paper proposes an MTBS estimation method based on the combination of Hilbert transform and fundamental frequency estimation(CHF). The CHF was verified with ultrasonic backscatter signals from simulations and in vitro measurements at a central frequency of 5MHz.The CHF method was compared with the simplified inverse filter tracking(SIFT)method,Simons' Quadratic Transformation(QT)method,Singular Spectrum Analysis(SSA)method,and Spectral Autocorrelation(SAC)method.Monte-Carlo simulations were performed by varying the MTBS,signal-to-noise ratio(SNR),standard deviation of regular spacing(SDRS),amplitude ratio of diffuse scattering to regular scattering(Ad)and frequency dependent attenuation(nBUA).The simulation results showed that the CHF method had a better performance in MTBS estimation under almost all the examination conditions except for SNR.The estimation percentage correct(EPC)was greater than 90% when the MTBS was in the range of 0.4to 1.4mm.In the in vitro measurements,the estimated EPC by the CHF method was91.25±7.81%(mean±standard deviation).A significant correlation was observed for the CHF-estimated MTBS and micro-computed tomography(μ-CT)-measured values(R^2=0.75,p<0.01).These results demonstrate that the CHF method is anti-interference for MTBS estimation and can be used to estimate trabecular bone spacing.
基金supported in part by National Science Foundation (#NSF DEB-0830024 and NSF MCB-0958172)the US Department of Energy’s BioEnergy Science Center grant through the Office of Biological and Environmental Research+1 种基金The BioEnergy Science Center is a US Department of Energy Bioenergy Research Center supported by the Office of Biological and Environmental Research in the DOE Office of ScienceFunding for open access charge: US Department of Energy’s BioEnergy Science Center
文摘The availability of a large number of sequenced bacterial genomes facilitates in-depth studies about why genes(operons)in a bacterial genome are globally organized the way they are.We have previously discovered that(the relative)transcription-activation frequencies among different biological pathways encoded in a genome have a dominating role in the global arrangement of operons.One complicating factor in such a study is that some operons may be involved in multiple pathways with different activation frequencies.A quantitative model has been developed that captures this information,which tends to be minimized by the current global arrangement of operons in a bacterial(and archaeal)genome compared to possible alternative arrangements.A study is carried out here using this model on a collection of 52 closely related Escherichia coli genomes,which revealed interesting new insights about how bacterial genomes evolve to optimally adapt to their environments through adjusting the(relative)genomic locations of the encoding operons of biological pathways once their utilization and hence transcription activation frequencies change,to maintain the above energy-efficiency property.More specifically we observed that it is the frequencies of the transcription activation of pathways relative to those of the other encoded pathways in an organism as well as the variation in the activation frequencies of a specific pathway across the related genomes that play a key role in the observed commonalities and differences in the genomic organizations of genes(and operons)encoding specific pathways across different genomes.