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Molecular genetic analysis of a Chinese patient with Fabry disease

Chinese Medical Journal 2000年第2期113卷 90-92页

作者： Ching-Wan Lam Ying-Tat Mak Yuk-Ming Dennis Lo Sui-FanTong Ka-Fai To Fernand Mac-Moune Lai Department of Chemical Pathology The Chinese University of Hong Kong Prince of Wales Hospital Hong Kong China Department of Anatomical and Cellular Pathology The Chinese University of Hong Kong Prince of Wales Hospital Hong Kong China

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Comparative analysis of dideoxy sequencing,the KRAS StripAssay and pyrosequencing for detection of KRAS mutation

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World Journal of Gastroenterology 2010年第38期16卷 4858-4864页

作者： Jing Gao Yan-Yan Li Ping-Nai Sun Lin Shen Key Laboratory of Carc inogenesis and Transla tional Resear ch (Ministry of Education) Department of GI OncologyPeking University School of OncologyBeijing Cancer Hospital and InstituteBeijing 100142China

AIM:To compare the differences between dideoxy sequencing/KRAS StripAssay/pyrosequencing for detection of KRAS mutation in Chinese colorectal cancer (CRC) ***:Formalin-f ixed, paraff in-embedded (FFPE) samples with tumor cells ≥ 50% were collected from 100 Chinese CRC patients at Beijing Cancer Hospital. After the extraction of genome dna from FFPE samples, fragments contained codons 12 and 13 of KRAS exon 2 were amplified by polymerase chain reaction and analyzed by dideoxy sequencing, the KRAS Strip Assay and pyrosequencing. In addition, the sensitivities of the 3 methods were compared on serial dilutions (contents of mutant dna: 100%,50%,20%, 5%,10%, 5%,1%,0%) of A549 cell line dna (carrying the codon 12 Gly>Ser mutation) into wild-type dna (human normal intestinal mucosa). The results of dideoxy sequencing,the KRAS StripAssay and pyrosequencing were analyzed by Chromas Software, Collector forKRAS Strip Assay and the pyrosequencing PyroMarkTM Q24 system, ***: Among 100 patients, KRAS mutations were identif ied in 34%, 37% and 37% of patients by dideoxy sequencing, the KRAS StripAssay and pyrosequencing, respectively. The sensitivity was highest with the KRAS Strip Assay (1%), followed by pyrosequencing (5%), and dideoxy sequencing was lowest (15%). Six different mutation types were found in this study with 3 main mutations Gly12 Asp (GGT>GAT), Gly12 Val (GGT>GTT) and Gly13 Asp (GGC>GAC). Thirty-three patients were identifi ed to have KRAS mutations by the 3 methods, and a total of 8 patients had conflicting results between 3 methods: 4 mutations not detected by dideoxy sequencing and the KRAS StripAssay were identified by pyrosequencing; 3 mutations not detected by dideoxy sequencing and pyrosequencing were identif ied by the KRAS StripAssay; and 1 mutation not detected by pyrosequencing was conf irmed by dideoxy sequencing and the KRAS StripAssay. Among these discordant results, the results identif ied by dideoxy sequencing were con

关键词： dna mutational analysis KRAS Mutation Dideoxy sequencing KRAS StripAssay Pyrosequencing

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Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease

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Chinese Medical Journal 2018年第4期131卷 448-453页

作者： Hua-Xu Liu Chuan-Qiang Pu Qiang Shi Yu-Tong Zhang Rui Ban Department of Neurology Chinese People's Liberation Army General Hospital Beijing 100853 China School of Medicine Nankai University Tianjin 300071 China

Background： Pompe disease is a rare lysosomal glycogen storage disorder linked to the acid alpha-glucosidase gene （GAA）. A wide clinical and genetic variability exists between patients from different ethnic populations, and the genotype-phenotype correlations are still not well understood. The aim of this study was to report the clinicopathological and genetic characteristics of five Chinese patients with late-onset Pompe disease （LOPD） who carried novel GAA gene mutations. Methods： Clinical and pathological data of patients diagnosed with glycogen storage disease at our institution from April 1986 to August 2017 were collected, and next-generation sequencing of frozen muscle specimens was conducted. Results： Of the five patients included in the study, the median disease onset age was 13 years, with a median 5 years delay in diagnosis. The patients mainly manifested as progressive weakness in the proximal and axial muscles, while one patient developed respiratory insufficiency that required artificial ventilation. In muscle biopsies, vacuoles with variable sizes and shapes appeared inside muscle fibers, and they stained positive for both periodic acid-Schiff and acid phosphatase staining. Ten GAA gene mutations, including seven novel ones （c.796C〉A, c. 1057C〉T, c. 1201C〉A, c. 1780C〉T, c. 1799G〉C, c.2051C〉A, c.2235dupG）, were identified by genetic tests. Conclusions： The seven novel GAA gene mutations revealed in this study broaden the genetic spectrum of LOPD and highlight the genetic heterogeneity in Chinese LOPD patients.

关键词： Alpha-glucosidase dna mutational analysis Genetic Heterogeneity Glycogen Storage Disease Type Ⅱ

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APC and K-ras gene mutation in aberrant crypt foci of human colon

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World Journal of Gastroenterology 2001年第3期7卷 352-356页

作者： Ping Yuan~1 Meng Hong Sun~2 Jin Sheng Zhang~1 Xiong Zeng Zhu~2 Da Ren Shi~2 ~1Department of Pathology,Medical College of Fudan University,~2Department of Pathology,Cancer Hospital/Cancer Institute,Fudan University,Shanghai 200032,ChinaDr.Ping Yuan Studying Province.studying in Medical College of Fudan University,worked in Department of Pathology,Wannan Medical College,having eighteen papers published. Department of Pathology Medical College of Fudan University Shanghai 200032 China.

AIM:To study the genetic alteration in ACF and to define the possibility that ACF may be a very early morphological lesion with molecular changes,and to explore the relationship between ACF and colorectal adenoma even carcinoma. METHODS: dna from 35 CRC, 15 adenomas, 34 ACF and 10 normal mucus was isolated by means of microdissection. Direct gene sequencing of K-ras gene including codon 12, 13 and 61 as well as the mutation cluster region (MCR) of APC gene was performed. RESULTS: K-ras gene mutation frequency in ACF, adenoma and carcinoma was 17.6% (6/34), 13.3% (2/15), and 14.3% (5/35) respectively, showing no difference (P > 0.05) in K-ras gene mutation among three pathologic procedures. The K-ras gene mutation in adenoma, carcinoma and 4 ACF restricted in codon 12 (GGT GAT), but the other 2 mutations from ACF located in codon 13 (GGC GAC). K-ras gene mutation was found more frequently in older patients and patients with polypoid cancer. No mutation in codon 61 was found in the three tissue types. Mutation rate of APC gene in adenoma and carcinoma was 22.9% (8/35) and 26.7% (4/15), which was higher than ACF (2.9%) (P <0.05). APC gene mutation in carcinoma was not correlated with age of patients, location, size and differentiation of tumor. CONCLUSION: ACF might be a very early morphological lesion in the tumorogenesis of colorectal tumor. The morphological feature and gene mutation status was different in ACF and adenoma. ACF is possibly putative microadenoma that might be the precursor of adenoma. In addition, the development of a subgroup of colorectal carcinomas might undergo a way of normal epithelium ACF carcinomas .

关键词： Genes, APC Adenoma Colorectal Neoplasms dna mutational analysis Gene Frequency Genes, ras Humans Point Mutation Research Support, Non-U.S. Gov't

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Relationship between a novel polymorphism of lipoprotein lipase gene and coronary heart disease

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Chinese Medical Journal 2002年第5期115卷 677-680,147-148页

作者：苏智广张思仲候一平张立廖林川肖翠英 Department of Medical Genetics West China HospitalWest China Medical CenterSichuan UniversityChengdu 610041China Institute of Forensic Medicine West China Medical CenterSichuan UniversityChengdu 610041China Department of Cardiology West China HospitalWest China Medical CenterSichuan UniversityChengdu 610041China

OBJECTIVE: To investigate polymorphisms in the gene for lipoprotein lipase (LPL) in Chinese populations with coronary heart disease (CHD) and to inquire into the relationship between these polymorphisms in LPL gene and CHD. METHODS: Genomic dna was extracted from patients with CHD and normal control subjects using a salting out method. The entire coding region and flanking sequences of all coding exons of the LPL gene were amplified by PCR technique and PCR products were detected by denaturing high-performance liquid chromatography (DHPLC) and sequenced with a dideoxy terminal termination method. RESULTS: A novel polymorphic site, G830A, that is within the fifth exon of the LPL gene was found. The 192 codon CGA was changed into CAA and resulted in the substitution of glutamine for arginine. Between the control and CHD groups, chi-square test showed no significant difference in the frequencies of the A/A genotype and A allele (P > 0.05). However, the frequencies of A/A genotype and A allele (0.653 and 0.786) in CHD patients with high plasma triglyceride/lowed plasma high density lipoprotein cholesterol were higher than those (0.415 and 0.642) in CHD patients without hyperlipidemia (P Gln substitution polymorphism and CHD, but there is a significant positive correlation between the A/A genotype of the LPL gene and CHD associated with high triglyceride/lowed high density lipoprotein cholesterol. This study may provide new data for exploring the molecular mechanism of CHD.

关键词： Alleles Apolipoproteins Chromatography, High Pressure Liquid Coronary Disease dna dna mutational analysis Gene Frequency Humans Hypertriglyceridemia Lipoprotein Lipase Lipoproteins Lipoproteins, HDL Cholesterol Polymorphism, Genetic Research Support, Non-U.S. Gov't

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Receptor expression-enhancing protein 1 gene （SPG31） mutations are rare in Chinese Han patients with hereditary spastic paraplegia

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Chinese Medical Journal 2009年第17期122卷 2064-2066页

作者： DU Juan SHEN Lu ZHAO Guo-hua WANG Yin-guang LIAO Shu-sheng CHEN Chong ZHOU Zhi-fan LUO Ying-ying JIANG Hong XIA Kun TANG Bei-sha Department of Neurology Xiangya Hospital Central SouthUniversity Changsha Hunan 410008 China National Laboratory of Medical Genetics of China ChangshaHunan 410078 China Neurodegenerative Disorders Research Center Central SouthUniversity Changsha Hunan 410008 China

Hereditary spastic paraplegia （HSP）, also known as familial spastic paraparesis or Stumpell-Lorrain disease, is a large group of inherited, heterogeneous neurologic disorders caused by the degeneration of corticospinal axons. The prevalence is estimated at 3-10 cases per 100000 people in Europe, and is uncertain in other continents. Most patients have the same core features, which are characterized by spastic gait, lower limb hypertonicity, hyperreflexia, extensor-plantar responses, muscle weakness, and occasionally decreased vibration sense at the ankles, bladder dysfunction, pes cavus, or scoliosis.

关键词： spastic paraplegia, hereditary REEP1 dna mutational analysis

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