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mutation analysis of PAX6 gene in a large Chinese family with aniridia

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Chinese Medical Journal 2005年第4期118卷 302-306页

作者： SONG Shu-juan LIU Ying-zhi CONG Ri-chang JIN Ying HOU Zhi-qiang MA Zhi-zhong REN Guo-cheng LI Ling-song Peking University Stem Cell Research Center Beijing 100083China Central Hospital of Chaoyang City Chaoyang 122000China Third Hospital Eye Center Peking UniversityBeijing 100083China

Background mutations in PAX6 gene have been shown to be the genetic cause of aniridia, which is a severe panocular eye disease characterised by iris hypoplasia. However, there is no study to do genetic analysis of aniridia, although there are several case reports in China. Here, we describe a mutation analysis of PAX6 in a large Chinese family with aniridia. Methods Genomic DNA from venous blood samples was prepared. Haplotype analysis was performed with two genetic markers ( D11S904 and D11S935). Fourteen exons of the PAX6 gene were amplified from genomic DNA. Polymerase chain reaction ( PCR) products of each exon were analysed by single strand conformational polymorphism (SSCP). The PCR products having an abnormal pattern were sequenced to confirm the mutation. Results Significant evidence for allele sharing in affected patients was detected suggesting that PAX6 mutation links to aniridia in this family. An extra band corresponding to exon 9 in PAX6 was found by single strand conformational polymorphism analysis in all the aniridia patients in this family, but not detected in the unaffected members. A mutation of C to T was detected by sequencing at the nucleotide 1080 that converts the Arg codon (CGA) to the termination codon (TGA). Conclusions Aniridia is caused by a nonsense mutation of PAX6 gene in the large Chinese kindred. Genetic test is important to prevent the transmission of aniridia to their offsprings in the kindred by prenatal diagnosis.

关键词： aniridia PAX6 gene mutation analysis

mutation analysis of IgVH Gene in B-Cell Chronic Lymphocytic Leukemia

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Journal of Huazhong University of Science and Technology(Medical Sciences) 2002年第3期22卷 177-179,182页

作者：王峰朱慧芬朱丽娟殷波涛沈关心 Shen Guanxin Institute of Im-munologyTongji Medical College Huazhong University ofScience and Technology Wuhan 430030 Institute of Immunology School of Basic Medical Sciences Tongji Medical College Huazhong University of Science and Technology Wuhan 430030

Summary: The variable heavy chain region (VH) genes of 3 untreated patients with B cell chronic lymphocytic leukemia (B CLL) were cloned and analyzed. The VH family used was VH3 11, VH3 72 and VH3 33. More than 2 % difference from the corresponding germline gene was detected in all the 3 obtained potential functional genes (average 16.7). mutation pattern analysis indicated evidence of antigen selective pressure observed in 1 of 3 cases. Our findings suggested that the tumor cells originate from post GC cells.

关键词： immunoglobulin variable region mutation analysis B cell chronic lymphocytic leukemia

Clinical classification and gene mutation analysis in 53 cases of Chinese proband with charcot-marie-tooth disease

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Clinical classification and gene mutation analysis in 53 cas...

Clinical classification and gene mutation of Chinese probands with Charcot-Marie-Tooth disease analysis of 57 cases

中国神经科学学会第四次会员代表大会暨第八届全国学术会议

作者： Ru-Xu ZHANG Xia-Hong ZI Bei-Sha TANG~* Department of Neurology Xiangya Hospital Changsa 410008

＜正＞Objective Charcot-Marie-Tooth Disease（CMT） is a clinically and genetically heterogeneous group of hereditary peripheral *** this study,we carried out clinical classification and gene mutation detection in 53 cases of Chinese proband with CMT,with a purpose of establishing an effective procedure for gene diagnosis of *** Conducting clinical classification based on inheritance pattern,clinical manifestation,nerve electrophysiological and pathological characteristics of probands with *** out gene mutation analysis using real-time fluorescence quantitative PCR,PCR-SSCP,DHPLC,and DNA *** Five cases of AD-CMT1 and 13 cases of sporadic CMT1 are diagnosed as CMT1A;5 cases of X-CMT1,1 case of X-CMT2 and 1 case of sporadic CMT1 are diagnosed as CMTX1;1 case of AD-CMT2 is diagnosed as CMT2F;1 case of AD-CMT2 is diagnosed as CMT2L;1 case of AD-CMT2 is diagnosed as CMT2I;1 case of sporadic CMT2 is diagnosed as CMT2A;1 case of AR-CMT1 is diagnosed as CMT4A. Conclusions Among the 53 cases of CMT probands,7 genotypes out of 30 patients were diagnosed with a gene diagnosis detection rate of 56.6%.Clinical classification of CMT probands will provide instructive information for gene diagnosis.

关键词： Charcot-Marie-Tooth Disease clinical classification gene mutation analysis

来源： cnki会议评论

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Neural Regeneration Research 2011年第9期6卷 706-711页

作者： Ruxu Zhang Xiaobo Li Xiaohong Zi Shunxiang Huang Fufeng Zhang Kun Xia Qian Pan Beisha Tang Department of Neurology the Third Xiangya Hospital Central South University Changsha 410013 Hunan Province China Department of Neurology Xiangya Hospital Central South University Changsha 410008 Hunan Province China National Key Laboratory of Medical Genetics Central South University Changsha 410078 Hunan Province China

Charcot-Marie-Tooth （CMT） disease is the most common inherited peripheral neuropathic disorder. CMT is clinically and genetically heterogeneous. To date, 27 genes associated with the disease have been cloned. The present study carried out clinical classification according to clinical, electrophysiological and pathological features, conducted inheritance classification according to inheritance patterns, and performed mutation analysis of 13 CMT disease genes （PMP22, CX32, HSPB1, MNF2, MPZ, HSPB8, GDAP1, NFL, EGR2, SIMPLE, RAB7, LMNA, MTMR2） in 57 Chinese probands with CMT. Five cases of AD-CMT1 and 13 cases of sporadic CMT1 were diagnosed as CMT1A; five cases of X-CMT1, one case of X-CMT2 and one case of sporadic CMT1 were diagnosed as CMTXl; four cases of AD-CMT2 were diagnosed as CMT2F; one case of AD-CMT2 and one case of sporadic CMT2 were diagnosed as CMT2A2; one case of AD-CMT2 was diagnosed as CMT2L; one case of AD-CMT2 was diagnosed as CMT2J; one case of AR-CMT1 was diagnosed as CMT4A. Among the 57 CMT probands, seven genotypes were determined among 34 patients, with a detection rate of 59.6%. The results indicated that the clinical classification and inheritance classification are indispensable for selecting potential disease genes for mutation detection, and for efficient molecular diagnosis.

关键词： Charcot-Marie-Tooth disease clinical classification gene mutation analysis

Partial Fusion (F) Gene analysis of Newcastle Disease Virus Detected in Pakistan during 2021-2022

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Journal of Biosciences and Medicines 2024年第5期12卷 256-275页

作者： Muhammad Danish Mehmood Huma Anwar Ul-Haq Rauf Khalid Yasir Amin Muhammad Usman Ghani Muhammad Ismail Rabia Habib Fareeha Arshed Abdul Rasheed Shaukat Institute of Molecular Biology & Biotechnology University of Lahore Lahore Pakistan Research & Development Division Ottoman Pharma Lahore Pakistan Quality Assurance Department Ottoman Pharma Lahore Pakistan Veterinary Research and Disease Investigation Center Abbottabad Pakistan Quality Control Department Ottoman Pharma Immuno Lahore Pakistan Production Department Ottoman Pharma Lahore Pakistan Poultry Production Department Sabir&#8217s Poultry Pvt. Ltd. Sabroso Pakistan

Newcastle disease (ND) virus is a leading threat to commercial and domestic poultry in Pakistan. The virus infects and constitutes irreversible impairment to the nervous system, damages the respiratory system, and marks severe gastrointestinal lesions leading to heavy mortality in short-living birds and substantial losses in layers and breeders. The continuous emergence and evolution of the virus made it inclined to evade the humoral response and indirectly the circumvention of artificial active immunization. Newcastle disease is caused by the orthoavula genus of the paramyxoviridae family and has shown high genetic diversity even in their genotypes while information regarding enzootic trends of the virus is scanty in Pakistan. A total of 40 tracheal samples of NDV were collected from different commercial broiler farms and 11 isolates of NDV were identified. In the current study, we determined the genetic diversity of the Newcastle disease virus based on the partial sequencing of the fusion protein gene available in the NCBI database. Genetic analysis showed that seven isolates belonged to class I genotype VII and four belonged to class II genotype II. Interestingly, two isolates had epidemiological connections with vaccine-like class II genotype II. Our findings, concerning the recent outbreaks of class I genotype VII and class II genotype II of NDV in vaccinated commercial flocks, suggest possible potential partial mutations in the fusion protein gene. Genetic diversity and formation of the new cleavage site in an important neutralizing protein of wild strain are linked with the potency of artificial active immunization and a major cause of vaccine failure.

关键词： Newcastle Disease Virus Haemagglutination Inhibition Polymerase Chain Reaction Phylogenetic Tree mutation analysis

Characteristics of the dynamic changes in active accumulated temperature in Sichuan,China in the last 51 years against the background of climate change

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Journal of Mountain Science 2023年第1期20卷 115-128页

作者： WANG Hao JIANG Shan WANG Jia-bin YU Xiao-hang HUANG Jia-ning LIU Jian-gang School of Geography Liaoning Normal UniversityDalian116029China

It is of utmost necessity to understand the dynamics of regional active accumulated temperature(AAT)to cope with the negative impacts of global warming on agroforestry development and food security and to provide a real-time and effective reference basis for regional agroforestry *** daily temperature data from 30 meteorological stations in Sichuan Province from 1970 to 2020,and sea surface temperature(SST)index data from the Atlantic Multiphase Oscillation(AMO)and Pacific Decadal Oscillation(PDO)were used for the *** Province was divided into the western region(WS)and the eastern region(ES),considering 1000 m above sea level as the *** spatiotemporal characteristics of≥0℃ and≥10℃ active accumulated temperature(AAT0,AAT10)in WS and ES were analyzed comprehensively using 5-day average sliding,empirical orthogonal function(EOF),ensemble empirical mode decomposition(EEMD),and multiple mutation *** results show that(1)AAT0 and AAT10 of WS ranged from 3034℃ to 3586℃ and 1971℃ to 2636℃,respectively,while the AAT0 and AAT10 of ES ranged from 5863℃ to 6513℃ and 4847℃ to 5875℃,*** period around 1997 was a significant abrupt change,and the AAT in the province generally increased during the subsequent time period(2)AAT in the study area is mainly driven by the fluctuations of AMO,as reflected by the low-to-high variation of AAT coinciding with the jump of the cold-to-warm phase of *** different time scale fluctuations in the past 51 years,the major cycle for both AAT0 and AAT10 in WS is 3.40 a,while the major cycles in ES are 3.64 a and 3.19 a,respectively with a sub-cycle of 7.29 *** fluctuation has an insignificant periodic characteristic of 25.50 a on the interdecadal scale(3)The spatial heterogeneity of AAT in WS is prominent and is mainly reflected by the significantly warm conditions in the south of the WS region and relatively slight warm conditions in the north,as well as by the isolated cooling area in the f

关键词： Sichuan Province Active accumulated temperature(AAT) Ensemble empirical mode decomposition(EEMD) mutation analysis Empirical orthogonal function(EOF)

Investigation of Single and Multiple mutations Prediction Using Binary Classification Approach

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Intelligent Automation & Soft Computing 2023年第4期36卷 1189-1203页

作者： T.Edwin Ponraj J.Charles Department of Computer Applications Noorul Islam Centre for Higher EducationKumaracoil629180India Department of Software Engineering Noorul Islam Centre for Higher EducationKumaracoil629180India

The mutation is a critical element in determining the proteins’stability,becoming a core element in portraying the effects of a drug in the pharmaceutical *** wet laboratory tests to provide a better perspective on protein mutations is expensive and time-intensive since there are so many potential muta-tions,computational approaches that can reliably anticipate the consequences of amino acid mutations are *** work presents a robust methodology to analyze and identify the effects of mutation on a single protein ***,the context in a collection of words is determined using a knowledge graph for feature selection *** proposed prediction is based on an easier and sim-pler logistic regression inferred binary classiﬁcation *** approach can able to obtain a classiﬁcation accuracy(AUC)Area Under the Curve of 87%when randomly validated against experimental energy ***,for each cross-fold validation,the precision,recall,and F-Score are *** results support the validity of our strategy since it performs the vast majority of prior studies in this domain.

关键词： Proteins data science mutation analysis random forest neighbor proteins single and double mutations

Missed colorectal cancers in a fecal immunochemical test-based screening program: Molecular profiling of interval carcinomas

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World Journal of Gastrointestinal Oncology 2022年第11期14卷 2195-2207页

作者： Manon van der Vlugt Beatriz Carvalho Joelle Fliers Nahid Montazeri Christian Rausch Esmée J Grobbee Manon van Engeland Manon C W Spaander Gerrit A Meijer Evelien Dekker Department of Gastroenterology and Hepatology Amsterdam University Medical CenterAmsterdam 1105 AZNetherlands Department of Pathology Netherlands Cancer InstituteAmsterdam 1066 CXNetherlands Biostatistics Unit Department of Gastroenterology and HepatologyAmsterdam University Medical CenterAmsterdam 1105 AZNetherlands Department of Gastroenterology and Hepatology Erasmus MC University Medical CenterRotterdam 3015 CNNetherlands Department of Pathology GROW-School for Oncology and Developmental BiologyMaastricht University Medical CenterMaastricht 6202 AZNetherlands

BACKGROUND For optimizing fecal immunochemical test(FIT)-based screening programs,reducing the rate of missed colorectal cancers(CRCs)by FIT(FIT-interval CRCs)is an important *** of the molecular make-up of these missed lesions could facilitate more accurate detection of all(precursor)*** To compare the molecular make-up of FIT-interval CRCs to lesions that are detected by FIT[screen-detected CRCs(SD-CRCs)].METHODS FIT-interval CRCs observed in a Dutch pilot-program of FIT-based screening were compared to a control group of SD-CRCs in a 1:2 ratio,resulting in 27 FIT-interval CRC and 54 *** analyses included microsatellite instability(MSI),CpG island methylator phenotype(CIMP),DNA sequence mutations and copy number alterations(CNAs).RESULTS Although no significant differences were reached,FIT-interval CRCs were more often CIMP positive and MSI positive(33%CIMP in FIT-interval CRCs vs 21%in SD-CRCs(P=0.274);19%MSI in FIT-interval CRCs vs 12%in SD-CRCs(P=0.469)),and showed more often serrated pathway associated features such as BRAF(30%vs 12%,P=0.090)and PTEN(15%vs 2.4%,P=0.063)*** mutations,a classic feature of the adenoma-carcinoma-sequence,were more abundant in SD-CRCs(68%vs 40%in FIT-interval CRCs P=0.035).Regarding CNAs differences between the two groups;FIT-interval CRCs less often showed gains at the regions 8p11.22-q24.3(P=0.009),and more often gains at 20p13-p12.1(P=0.039).CONCLUSION Serrated pathway associated molecular features seem to be more common in FIT-interval CRCs,while classic adenoma carcinoma pathway associated molecular features seem to be more common in *** indicates that proximal serrated lesions may be overrepresented among FITinterval CRCs.

关键词： Fecal immunochemical test-interval colorectal cancer mutation analysis Colorectal cancer screening Serrated pathway Adenoma-carcinoma pathway

mutation of MED12 is not a frequent occurrence in prostate cancer of Korean patients

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Asian Journal of Andrology 2017年第3期19卷 346-349页

作者： Nara Yoon Sharon Lim So Young Kang Ghee Young Kwon Hwang Gyun Jeon Byong Chang Jeong Seong Il Seo Seong Soo Jeon Hyun Moo Lee Han Yong Choi Department of Pathology Samsung Medical Center Sungkyunkwan University School of Medicine Seoul 135-710 Korea Department of Urology Samsung Medical Center Sungkyunkwan University School of Medicine Seoul 135-710 Korea

Prostate cancer is one of the major health care problems, but the molecular pathogenesis has been relatively insufficiently elucidated. Recently, whole exome sequencing of prostate cancer identified recurrent mutations involving MED12 in Caucasian patients, which finding was not reproduced in one subsequent study by Sanger sequencing. Thus, we investigated mutation status of MED12 in exons 2 and 26 by Sanger sequencing in 102 radical prostatectomy cases from Korean patients. The analysis found the mutation in none of the cases. Therefore, MED12 mutation does not appear to represent a significant molecular alteration in this cohort of patients according to the analysis by the traditional ＂gold standard.＂

关键词： mediator complex subunit 12 mutation analysis prostate cancer prostate neoplasms