We report here the characterization of a five-generation Han Chinese family with Leber＇s hereditary optic neuropathy （LHON）. Strik- ingly, this Chinese family displayed high penetrance and expressivity of visual lo...We report here the characterization of a five-generation Han Chinese family with Leber＇s hereditary optic neuropathy （LHON）. Strik- ingly, this Chinese family displayed high penetrance and expressivity of visual loss. The average age-of-onset of vision loss was 18 years in this family. Nineteen （11 males/8 females） of 29 matrilineal relatives in this family developed visual loss with a wide range of severity, ranging from blindness to normal vision. Sequence analysis of mitochondrial genome in this pedigree revealed the presence of the ND4 G 11778A mutation and 44 other variants belonging to Asian haplogroup M7b. The G 11778A mutation is present at homoplasmy in matri- lineal relatives of this Chinese family. Of other variants, the C01 G6480A, ND5 T12811C and Cytb A15395G located at highly conserved residues of corresponding polypeptides. In fact, these variants were implicated to be involved in other clinical abnormalities. Here, these variants may act in synergy with the primary LHON-associated Gl1778A mutation. Thus, the mitochondrial dysfunction caused by the primary ND4 G11778A mutation may be worsened by these mitochondrial variants. The results imply that the G6480A, T12811C and A15395G variants might have a potential modifier role in increasing the penetrance and expressivity of the primary LHON-associated G11778A mutation in this Chinese family.展开更多
Photocatalytic activities of TiO2 and NaY zeolites-supported TiO2 were investigated with omethoate as a model pollutant.The physical and chemical states of NaY zeolite-supported TiO2 were evaluated via XRD,FTIR,BET an...Photocatalytic activities of TiO2 and NaY zeolites-supported TiO2 were investigated with omethoate as a model pollutant.The physical and chemical states of NaY zeolite-supported TiO2 were evaluated via XRD,FTIR,BET and SEM.Photodegradation of omethoate was studied with H2O2 as oxidant and TiO2 supported on NaY zeolite as photocatalyst.Parameters involved in the photo-catalysis of omethoate,i.e.,the calcination temperature of the photocatalyst,initial omethoate concentration,the amount of TiO2 loaded on NaY zeolite,photocatalyst dosage and H2O2 concentration were investigated in detail.The results show that TiO2/NaY zeolite prepared by means of sol-gel method exhibited a good photocatalytic activity for the degradation of omethoate.Optimum conditions included the calcination temperature of photocatalyst 550℃,initial omethoate concentration 500 mg/L,the amount of TiO2 loaded on NaY zeolite 35%（mass fraction）,the amount of photocatalyst 5 g/L,H2O2 concentration 30 mL/L and an irradiation time of 180 min.The removal of omethoate was up to 93%.Kinetics parameters of the photocatalytic degradation of omethoate were measured and calculated.The result shows the kinetics of photocatalytic degradation of omethoate is first-order.展开更多
The capsid protein encoded by ORF2 of human calicivirus(HuCV) expressed in the baculovirus expression system can self-assembled into virus-like particles(VLPs),which would be important for the development of improving...The capsid protein encoded by ORF2 of human calicivirus(HuCV) expressed in the baculovirus expression system can self-assembled into virus-like particles(VLPs),which would be important for the development of improving diagnostic methods.The RT-PCR procedures routinely used to amplify the RNA polymerase region have usually been inefficient for amplification of ORF2,which would bring obstacle for the development of new diagnostic reagents.Through optimization of RT-PCR conditions,we established a simple and high performance RT-PCR method to amplify ORF2,and by which demonstrated a corresponding relationship between the genotype and the antigenic type.It provides conditions for developing diagnostic reagent which accommodates to diagnosis of HuCVs prevailing in China,and also provides the basis for studying the genetic variance and the pathogenesis of HuCV.展开更多
基金Zhejiang Provincial Natural Science Foundation（ZB0202）；Chinese Young Scholar Award（No.30628013）；the National Science Foundation of China to M.X.G and the Key Research and Development Program from Zhejiang Province（No.2004C14005）to J.Q.
文摘We report here the characterization of a five-generation Han Chinese family with Leber＇s hereditary optic neuropathy （LHON）. Strik- ingly, this Chinese family displayed high penetrance and expressivity of visual loss. The average age-of-onset of vision loss was 18 years in this family. Nineteen （11 males/8 females） of 29 matrilineal relatives in this family developed visual loss with a wide range of severity, ranging from blindness to normal vision. Sequence analysis of mitochondrial genome in this pedigree revealed the presence of the ND4 G 11778A mutation and 44 other variants belonging to Asian haplogroup M7b. The G 11778A mutation is present at homoplasmy in matri- lineal relatives of this Chinese family. Of other variants, the C01 G6480A, ND5 T12811C and Cytb A15395G located at highly conserved residues of corresponding polypeptides. In fact, these variants were implicated to be involved in other clinical abnormalities. Here, these variants may act in synergy with the primary LHON-associated Gl1778A mutation. Thus, the mitochondrial dysfunction caused by the primary ND4 G11778A mutation may be worsened by these mitochondrial variants. The results imply that the G6480A, T12811C and A15395G variants might have a potential modifier role in increasing the penetrance and expressivity of the primary LHON-associated G11778A mutation in this Chinese family.
基金Supported by the Natural Science Foundation of Hebei Province,China(No.203364)
文摘Photocatalytic activities of TiO2 and NaY zeolites-supported TiO2 were investigated with omethoate as a model pollutant.The physical and chemical states of NaY zeolite-supported TiO2 were evaluated via XRD,FTIR,BET and SEM.Photodegradation of omethoate was studied with H2O2 as oxidant and TiO2 supported on NaY zeolite as photocatalyst.Parameters involved in the photo-catalysis of omethoate,i.e.,the calcination temperature of the photocatalyst,initial omethoate concentration,the amount of TiO2 loaded on NaY zeolite,photocatalyst dosage and H2O2 concentration were investigated in detail.The results show that TiO2/NaY zeolite prepared by means of sol-gel method exhibited a good photocatalytic activity for the degradation of omethoate.Optimum conditions included the calcination temperature of photocatalyst 550℃,initial omethoate concentration 500 mg/L,the amount of TiO2 loaded on NaY zeolite 35%（mass fraction）,the amount of photocatalyst 5 g/L,H2O2 concentration 30 mL/L and an irradiation time of 180 min.The removal of omethoate was up to 93%.Kinetics parameters of the photocatalytic degradation of omethoate were measured and calculated.The result shows the kinetics of photocatalytic degradation of omethoate is first-order.
文摘对浙江瑞安、福建宁德、福建东张水库3个地理群体共31例香鱼(Plecoglossus altivelis)的线粒体细胞色素b(Cyt b)基因和线粒体D-loop区序列进行了PCR扩增、序列测定、核苷酸组成和多态性分析。Cytb基因中,A、T、C和G4种核苷酸的比例分别为19.72%、29.71%、32.25%和18.32%,A+T含量为49.43%,G+C含量为50.57%。D-loop区序列中,A、T、C和G4种核苷酸的比例分别为29.99%、29.29%、23.80%和16.92%,A+T含量为59.28%,G+C含量为40.72%。在长度为1141bp的Cytb基因序列中,仅存在1个变异位点,核苷酸多样性指数(π值)为0.00028,31个样本中仅出现两种单倍型;857 bp 长的D-loop区序列中,仅存在5个变异位点,核苷酸多样性指数(π值)为0.00199,仅出现5种单倍型。这表明闽浙地区香鱼的遗传多样性水平很低,应当加大对香鱼的保护力度。
文摘The capsid protein encoded by ORF2 of human calicivirus(HuCV) expressed in the baculovirus expression system can self-assembled into virus-like particles(VLPs),which would be important for the development of improving diagnostic methods.The RT-PCR procedures routinely used to amplify the RNA polymerase region have usually been inefficient for amplification of ORF2,which would bring obstacle for the development of new diagnostic reagents.Through optimization of RT-PCR conditions,we established a simple and high performance RT-PCR method to amplify ORF2,and by which demonstrated a corresponding relationship between the genotype and the antigenic type.It provides conditions for developing diagnostic reagent which accommodates to diagnosis of HuCVs prevailing in China,and also provides the basis for studying the genetic variance and the pathogenesis of HuCV.
