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point mutation in the Parkin Gene on Patients with Parkinson's Disease

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Journal of Huazhong University of Science and Technology(Medical Sciences) 2003年第2期23卷 145-147页

作者：王涛梁直厚孙圣刚曹学兵彭海曹非刘红进童萼塘 Department of Neurology Xiehe HospitalTongji Medical CollegeHuazhong University of Science and Technology Wuhan 430022

To investigate the distribution of possible novel mutations from parkin gene in variant subset of patients with Parkinson's disease (PD) in China and explore whether parkin gene plays an important role in the pathogenesis of PD, 70 patients were divided into early-onset group and late-onset group; 70 healthy subjects were included as controls. Genomic DNA from 70 normal controls and from those of PD patients were extracted from peripheral blood leukocytes by using standard procedures. mutations of parkin gene (exon 1-12) in all the subjects were screened by PCR-single strand conformation polymorphism (SSCP). and further sequencing was performed in the samples with abnormal SSCP results, in order to confirm the mutation and its location. A new missense mutation Gly284Arg in a patient and 3 abnormal bands in SSCP electrophoresis from samples of another 3 patients were found. All the DNA variants were sourced from the samples of the patients with early-onset PD. It was concluded that Parkin point mutation also partially contributes to the development of early-onset Parkinson's disease in Chinese.

关键词： Parkinson's disease parkin gene point mutation

point mutation Identification Using On-Chip Ligase Detection Reaction

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Tsinghua Science and Technology 2004年第4期9卷 374-378页

作者：李艳曾令文程京 Department of Biological Sciences and Biotechnology Tsinghua UniversityBeijing 100084 China National Engineering Research Center for Beijing Biochip Technology 18 Life Science Parkway Changping District Beijing 102206 China National Engineering Research Center for Beijing Biochip Technology 18 Life Science ParkwayChangping District Beijing 102206 China

An efficient method was developed to detect point mutations using oligonucleotide microarrays and the ligase detection reaction (LDR). Allele-specific LDR primers were immobilized on polylysine-coated glass slides to perform LDR on a chip. The spotting concentration and detection limit were analyzed using a synthesized oligonucleotide as a template. The optimal primer spotting concentration was 20 mmol/L and the lowest detectable template concentration was 0.33 nmol/L. The method was successfully employed to iden-tify malignant mutations of hypertrophic cardiomyopathy. Asymmetric polymerase chain reaction was em-ployed to prepare single stranded DNA as LDR templates from cloned plasmids. The discrimination ratios for AC, TC, GT, TT, GA, and AA mismatches are 32.82, 44.24, 17.75, 18.34, 11.66, and 8.91, respectively. This method may allow construction of multiple mutation detection systems.

关键词： on-chip ligase detection reaction point mutation microarray hypertrophic cardiomyopathy

Naturally occurring PA^(E206K)point mutation in 2009 H1N1 pandemic influenza viruses impairs viral replication at high temperatures

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Virologica Sinica 2024年第1期39卷 71-80页

作者： Mengmeng Cao Qiannan Jia Jinghua Li Lili Zhao Li zhu Yufan Zhang Shan Li Tao Deng National Institute of Pathogen Biology Chinese Academy of Medical Sciences&Peking Union Medical CollegeBeijing100730China CAS Key Laboratory of Pathogen Microbiology and Immunology Institute of MicrobiologyChinese Academy of SciencesBeijing100101China

The emergence of influenza virus A pandemic H1N1 in April 2009 marked the first pandemic of the 21st *** this study,we observed significant differences in the polymerase activities of two clinical 2009 H1N1 influenza A virus isolates from Chinese and Japanese *** comparison of the three main protein subunits(PB2,PB1,and PA)of the viral RNA-dependent RNA polymerase complex and subsequent mutational analysis revealed that a single amino acid substitution(E206K)was responsible for the observed impaired replication *** in vitro experiments showed that presence of PAE206K decreased the replication of influenza A/WSN/33 virus in mammalian cells and a reduction in the virus’s pathogenicity in *** studies revealed that PAE206K is a temperature-sensitive mutant associated with the inability to transport PB1–PA complex to the nucleus at high temperature(39.5℃).Hence,this naturally occurring variant in the PA protein represents an ideal candidate mutation for the development of live attenuated influenza vaccines.

关键词： H1N1 Influenza A virus Polymerase acidic protein point mutation Viral replication

Genetically modified pigs with CD163 point mutation are resistant to HP-PRRSV infection

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Zoological Research 2024年第4期45卷 833-844页

作者： Ying Liu Lin Yang Hong-Yong Xiang Ming Niu Jia-Cheng Deng Xue-Yuan Li Wen-Jie Hao Hong-Sheng Ou-Yang Tong-Yu Liu Xiao-Chun Tang Da-Xin Pang Hong-Ming Yuan State Key Laboratory for Diagnosis and Treatment of Severe Zoonotic Infectious Diseases Animal Genome Editing Technology Innovation CenterCollege of Animal SciencesJilin UniversityChangchunJilin 130062China Chifeng Best Genetics Technology Co. Ltd.ChifengNei Mongol 024000China Chongqing Jitang Biotechnology Research Institute Co. Ltd.Chongqing 400015China

Porcine reproductive and respiratory syndrome(PRRS)is a globally prevalent contagious disease caused by the positive-strand RNA PRRS virus(PRRSV),resulting in substantial economic losses in the swine *** the CD163 SRCR5 domain,either through deletion or substitution,can eff1ectively confer resistance to PRRSV infection in ***,large fragment modifications in pigs inevitably raise concerns about potential adverse effects on growth *** the impact of genetic modifications on normal physiological functions is a promising direction for developing PRRSV-resistant *** the current study,we identified a specific functional amino acid in CD163 that influences PRRSV *** infection experiments conducted on Marc145 and PK-15CD163 cells illustrated that the mE535G or corresponding pE529G mutations markedly inhibited highly pathogenic PRRSV(HP-PRRSV)proliferation by preventing viral binding and ***,individual viral challenge tests revealed that pigs with the E529G mutation had viral loads two orders of magnitude lower than wild-type(WT)pigs,confirming effective resistance to *** of the physiological indicators and scavenger function of CD163 verified no significant differences between the WT and E529G *** findings suggest that E529G pigs can be used for breeding PRRSV-resistant pigs,providing novel insights into controlling future PRRSV outbreaks.

关键词： PRRSV CD163 point mutation E529G Pigs

Single-cell level point mutation analysis of circulating tumor cells through droplet microfluidics

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Chinese Chemical Letters 2022年第5期33卷 2701-2704页

作者： Shihui Qiu Chuanjie Shen Xiaoyu Jian Yunxing Lu Zhaoduo Tong Zhenhua Wu Hongju Mao Jianlong Zhao State Key State Laboratory of Transducer Technology Shanghai Institute of Microsystem and Information TechnologyChinese Academy of SciencesShanghai 200050China Center of Materials Science and Optoelectronics Engineering University of Chinese Academy of SciencesBeijing 100049China

Tumor heterogeneity plays a critical role in the determination of appropriate anticancer *** cir-culating tumor cells(CTCs)contain all tumor-related information,the genetic changes on CTCs could help us choose the appropriate treatments for different ***-base mutations are very common in tumor genetic changes which may result in drug ***,we introduce a single-cell mutation de-tection platform based on droplet *** platform integrates cell capsulation,cell lysis,poly-merase chain reaction(PCR)and the observation *** droplets’generation speed is over 6000 per minute and more than 600 cells could be encapsulated in one *** verify the performance of our platform in practical use,we performed the mutation analysis of 4 kinds of cells with our platform and noted that the genetic status of each single cell was clearly ***,these results agreed with those from direct *** with other forms of single-cell mutation detection techniques,our platform has high throughput,short experimental time and less experimental operations.

关键词： Single cell CTCs point mutation EGFR Microfluidics

A novel E153X point mutation in the androgen receptor gene in a patient with complete androgen insensitivity syndrome

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Asian Journal of Andrology 1999年第1期1卷 73-77页

作者： Silvia B Copelli Serge Lumbroso Francoise Audran Eliana H Pellizzari Juan J Heinrich Selva B Cigorraga Charles Sultan Héctor E Chemes Laboratore d'Hormonologie Hopital Lapeyronie et INSER U 439 Pathologie des recepteurs nucleaires.Unite d'Endocrinologie et Gynecologie PediatriquesHopital A.de VillenetiveMontpellier-France CEDIE-CONICET Division de EndocrinologtaHospital de Niflos"Ricardo Gutierrez"Buenos AiresArgentina

Aim:To study a 46,XY newborn patient with a phenotype suggestive of an androgen insensitivity syndrome toconfirn an anomaly in the AR ***:Genomic DNA from leukocytes was isolated in order to analyze SRYgene by PCR and sequencing of the eight exons of AR *** of human Leydig cell mesenchymal precursorsfrom the testis was performed in order to study testosterone production and response to hCG stimulation in ***:Surgical exploration disclosed two testes,no Wolffian structures and important Mullerian *** gene was present in peripheral blood *** of the AR gene evidenced a previously unreported Gto T transversion in exon 1 that changed the normal glutamine 153 codon to a stop *** cell culturesproduced sizable amounts of testosterone and were responsive to hCG ***:This E153X nonsensepoint mutation has not been described previously in cases of AIS,and could lead to the synthesis of a short truncated(153 vs 919 residues)non functional AR probably responsible for the phenotype of complete androgen insensitivitysyndrome(CAIS).

关键词： testicular feminization androgen receptor point mutation Mullerian ducts

A novel E153X point mutation in the androgen receptor gene in a patient with complete androgen insensitivity syndrome

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Asian Journal of Andrology 1999年第Z1期 73-77页

作者： Silvia B Copelli,SergeLumbroso,FrancoiseAudran,ElianaHPellizzari,JuanJHeinrich,SelvaBCigorraga,Charles Sultan,HéctorEChemes Laboratore d'Hormonologie Hopital Lapeyronie et INSER U 439 Pathologie des recepteurs nucleaires. Unite d'Endocrinologie et Gynecologie Pediatriques Hopital A. de Villenetive Montpellier-France CEDIE-CONICET Division de Endocrinologta Hospital de Niflos "Ricardo Gutierrez" Buenos Aires Argentina Laboratoire d'Hormonologie Hopital Lapeyronie et INSERM U 439 Pathologie des recepteurs nucleaires. Unie d'Endocrinologie et Gynecologie Pediatriques Hopital A. de Villeuve Montpellier-France Laboratoire d'Hormonologie Hopital Lapeyronie et INSERM U 439 Pathologie des recepteurs nucleaires. Unie d'Endocrinologie et Gynecologie Pediatriques Hopital A. de Villeuve Montpellier-France CEDIE-CONICET Division de Endocrinologia Hospital de Nifios "Ricardo Gutierrez" Buenos Aires Argentina CEDIE-CONICET Division de Endocrinologia Hospital de Nifios "Ricardo Gutierrez" Buenos Aires Argentina CEDIE-CONICET Division de Endocrinologia Hospital de Nifios "Ricardo Gutierrez" Buenos Aires Argentina Laboratoire d'Hormonologie Hopital Lapeyronie et INSERM U 439 Pathologie des recepteur nucleaires. Unite d'Endocrinologie et Gynecologie Pediatriques Hopital A. de Villenuve Montpellier-France CEDIE-CONICET Division de Endocrinologia Hospital de Niflos "Ricardo Gutierrez" Buenos Aires Argentina

Aim: To study a 46, XY newborn patient with a phenotype suggestive of an androgen insensitivity syndrome toconfirn an anomaly in the AR gene. Methods: Genomic DNA from leukocytes was isolated in order to analyze SRYgene by PCR and sequencing of the eight exons of AR gene. Isolation of human Leydig cell mesenchymal precursorsfrom the testis was performed in order to study testosterone production and response to hCG stimulation in ***: Surgical exploration disclosed two testes, no Wolffian structures and important Mullerian derivatives. TheSRY gene was present in peripheral blood leukocytes. Sequencing of the AR gene evidenced a previously unreported Gto T transversion in exon 1 that changed the normal glutamine 153 codon to a stop codon. Interstitial cell culturesproduced sizable amounts of testosterone and were responsive to hCG stimulation. Conclusion: This E153X nonsensepoint mutation has not been described previously in cases of AIS, and could lead to the synthesis of a short truncated(15

关键词： testicular feminization androgen receptor point mutation Mullerian ducts

The point mutation of p53 gene exon7 in hepatocellular carcinoma from Anhui Province,a non HCC prevalent area in China

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World Journal of Gastroenterology 2002年第3期8卷 480-482页

作者： LiuH WangY 等 LaboratoryofMolecularBiologyandDepartmentofBIochemistry AnhuiMedicalUniversityHefe230032iAnhuiProvinceChina LaboratoryofMolecularBiologyandDepartmentofBIochemistry AnhuiMedicalUniversityHefe230032

AIM: In hepatocellular carcinoma (HCC) prevalent areas of China, the point mutation of p53 exon7 is highly correlated with Hepatitis B virus(HBV) infection and aflatoxin B intake. While in non-HCC-prevalent areas of China, these factors are not so important in the etiology of HCC. Therefore, the point mutation of p53 exon7 may also be different than that in HCC-prevalent areas of China. The aim of this study is to investigate the status and carcinogenic role of the point mutation of p53 gene exon7 in hepatocellular carcinoma from Anhui Province, a non-HCC-prevalent area in China. METHODS: PCR PCR-SSCP and PCR-RFLP were applied to analyze the homozygous deletion and point mutation of p53 exon7 in HCC samples from Anhui, which were confirmed by DNA sequencing and Genbank comparison. RESULTS: In the 38 samples of hepatocellular carcinoma, no homozygous deletion of p53 exon7 was detected and point mutations of p53 exon7 were found in 4 cases, which were found to be heterozygous mutation of codon 249 with a mutation rate of 10.53%(4/38). The third base mutation(G-T) of p53 codon 249 was found by DNA sequencing and Genbank comparison. CONCLUSION: The incidence of point mutation of p53 codon 249 is lower in hepatocellular carcinoma and the heterozygous mutation of p53 exon7 found in these patients only indicate that they have genetic susceptibility to HCC. p53 codon 249 is a hotspot of p53 exon7 point mutation, suggesting that the point mutation of p53 exon 7 may not play a major role in the carcinogenesis of HCC in Anhui Province, a non-HCC-prevalent area in China.

关键词： Genes, p53 Base Sequence Carcinoma, Hepatocellular China DNA, Neoplasm Exons Humans Liver Neoplasms Molecular Sequence Data point mutation Polymerase Chain Reaction Polymorphism, Restriction Fragment Length Polymorphism, Single-Stranded Conformational Research Support, Non-U.S. Gov't Sequence Homology, Nucleic Acid

Rapid Detection ofK-ras Gene point mutation at Codon 12 by PCR-SSPin Pancreatic Adenocarcinom a

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The Journal of Biomedical Research 1999年第2期23卷 78-80页

作者： Liu Xunliang (刘训良) Dai Cuncai (戴存才) Du Jinghui (杜竞辉) Miao Yi (苗毅) Zhang Zhaosong (张兆松) 1 Cheng Shuzhen (陈淑贞) 1 Wang Xiang (王翔) 1 Department of General Surgery, the First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, P.R. China 1Molecular Biology Research Center, Nanjing Medical University, Nanjing 210029, P.R. China

To evaluate the feasibility and clinical significance of the PCR SSP technique in detecting K ras gene mutation at codon 12 in pancreatic adenocarcinoma tissues. 80 specimens of surgical resection or biopsy samples were tested at our hospital from January 1994 to September 1995. Three different special sequence primers (SSP) synthesized according to mutation styles of CGT, GTT, GAT were respectively prepared. Three amplification reactions were performed for each sample. The amplification products were analyzed by conventional polyacrylamide gel electrophoresis, stained with ethidium bromide and observed under UV transillumination. Results: All of the 34 pancreatic adenocarcinoma samples had positive PCR results with the mutation rate 100%. 7 cases were CGT mutation, 18 GGT and 17 GAT mutation, in which 2 types of mutation existed in 8 cases. No mutation appeared in 13 normal pancreatic tissues, 6 insulinomas, 6 chronic pancreatitis, 5 benign pancreatic cysts, 7 bile duct carcinoma, 5 ampulla carcinoma and 4 carcinomas of duodenal papilla. Conclusion: Pancreatic adenocarcinoma is one of the commonly encounted tumors and is still very difficult to diagnose at the early stage and to distinguish from other lesions preoperatively. Our study indicates that PCR SSP is an ideal assay in comparison with other methods to detect K ras gene mutation. It is simple, rapid, specific, sensitive and easily generalized for clinical application on preoperative diagnosis.

关键词： pancreatic adenocarcinoma RCP SSP K ras gene point mutation