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Clinical outcomes of EGFR-TKI treatment and genetic heterogeneity in lung adenocarcinoma patients with EGFR mutations on exons 19 and 21

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Chinese Journal of Cancer 2016年第4期35卷 171-180页

作者： Jiang-Yong Yu Si-Fan Yu Shu-Hang Wang Hua Bai Jun Zhao Tong-Tong An Jian-Chun Duan Jie Wang The Key Laboratory of Carcinogenesis and Translational Research(Ministry of Education) Department of Thoracic Medical Oncology Peking University School of OncologyBeijing Cancer Hospitaland Institute

Background:Epidermal growth factor receptor(EGFR) mutations,including a known exon 19 deletion(19 del) and exon 21 L858 R point mutation(L858R mutation),are strong predictors of the response to EGFR tyrosine kinase inhibitor(EGFR-TKI) treatment in lung adenocarcinoma.However,whether patients carrying EGFR 19 del and L858 R mutations exhibit different responsiveness to EGFR-TKls and what are the potential mechanism for this difference remain controversial.This study aimed to investigate the clinical outcomes of EGFR-TKI treatment in patients with EGFR 19 del and L858 R mutations and explore the genetic heterogeneity of tumors with the two mutation subtypes.Methods:Of 1127 patients with advanced lung adenocarcinoma harboring EGFR 19 del or L858 R mutations,532 received EGFR-TKI treatment and were included in this study.EGFR 19 del and L858 R mutations were detected by using denaturing high-performance liquid chromatography(DHPLC).T790 M mutation,which is a common resistant mutation on exon 20 of EGFR,was detected by amplification refractory mutation system(ARMS).Next-generation sequencing(NGS) was used to explore the genetic heterogeneity of tumors with EGFR 19 del and L858 R mutations.Results:Of the 532 patients,319(60.0%) had EGFR 19 del,and 213(40.0%) had L858 R mutations.The patients with EGFR 19 del presented a significantly higher overall response rate(ORR) for EGFR-TKI treatment(55.2%vs.43.7%,P = 0.017) and had a longer progression-free survival(PFS) after first-line EGFR-TKI treatment(14.4 vs.11.4 months,P = 0.034) compared with those with L858 R mutations.However,no statistically significant difference in overall survival(OS) was observed between the two groups of patients.T790 M mutation status was analyzed in 88 patients before EGFR-TKI treatment and 134 after EGFR-TKI treatment,and there was no significant difference in the co-existence of T790 M mutation with EGFR 19 del and L858 R mutations before EGFR-TKI treatment(5.6%vs.8.8%,P = 0.554)or after treatment(24.4%vs.35.4%,P = 0.176).In addition,24 patie

关键词： EGFR exon 19 deletion EGFR exon 21 L858R point mutation Lung adenocarcinoma Treatment efficacy

Molecular characterization of DnaJ 5 homologs in silkworm Bombyx mori and its expression during egg diapause

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Insect Science 2014年第6期21卷 677-686页

作者： Sasibhushan Sirigineedi Esvaran Vijayagowri Geetha N. Murthy Guruprasada Rao Kangayam M. Ponnuvel Genomics Division Seribiotech Research Laboratory Carmelaram Post Kodathi Bangalore 560035 Karnataka India

A comparison of the cDNA sequences （1 056 bp） of Bombyx mori DnaJ 5 homolog with B. mori genome revealed that unlike in other Hsps, it has an intron of 234 bp. The DnaJ 5 homolog contains 351 amino acids, of which 70 contain the conserved DnaJ domain at the N-terminal end. This homolog orB. mori has all desirable functional domains similar to other insects, and the 13 different DnaJ homologs identified in B. mori genome were distributed on different chromosomes. The expressed sequence tag database analysis of Hsp40 gene expression revealed higher expression in wing disc followed by diapause-induced eggs. Microarray analysis revealed higher expression of DnaJ 5 homolog at 18th h after oviposition in diapause-induced eggs. Further validation of DnaJ 5 expression through qPCR in diapause-induced and nondiapause eggs at different time intervals revealed higher expression in diapause eggs at 18 and 24 h after oviposition, which coincided with the expression of Hsp70 as the Hsp 40 is its co-chaperone. This study thus provides an outline of the genome organization of lisp40 gene, and its role in egg diapause induction in B. mori.

关键词： Bombyx mori diapause DnaJ exon Hsp40 intron

A novel missense mutation of the TYR gene in a pedigree with oculocutaneous albinism type 1 from China

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Chinese Medical Journal 2011年第20期124卷 3358-3361页

作者： LIN Yu-ying WEI Ai-hua ZHOU Zhi-yong ZHU Wei HE Xin LIAN Shi Department of Dermatology Xuanwu Hospital Capital Medical University Beijing 100053 China Department of Dermatology Beijing Tongren Hospital Capital Medical University Beijing 100730 China Key Laboratory of Molecular and Developmental Biology Institute of Genetics and Developmental Biology Chinese Academy of Sciences Beijing 100101 China

Background The mutation of the tyrosinase （TYR） gene results in oculocutaneous albinism type 1 （OCA1）, an autosomal recessive genetic disorder. OCA1 is the most common type of OCA in the Chinese population. Hence, the TYR gene was tested in this study. We also delineated the genetic analysis of OCA1 in a Chinese family. Methods Genomic DNA was isolated from the blood leukocytes of a proband and his family. Mutational analysis at the TYR locus by DNA sequencing was used to screen five exons, including the intron/exon junctions. A pedigree chart was drawn and the fundus of the eyes of the proband was also examined. Results A novel missense mutation p.1151S on exon 1, and homozygous TYR mutant alleles were identified in the proband. None of the mutants was identified among the 100 normal control subjects. Genetic analysis of the proband＇s wife showed normal alleles in the TYR gene. Thus, the fetus was predicated a carrier of OCA1 with a normal appearance. Conclusion This study provided new information about a novel mutation, p.1151S, in the TYR gene in a Chinese family with OCAI. Further investigation of the proband would be helpful to determine the effects of this mutation on TYR activity.

关键词： oculocutaneous albinism type 1 mutation TYR gene exon homozygous

Study on Fractal Characteristics of the Coding Sequences in DNA

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Chinese Journal of Chemistry 2006年第3期24卷 423-429页

作者：田元新陈超邹小勇谭学才蔡沛祥莫金垣 School of Chemistry and Chemical Engineering Sun Yat-Sen University Guangzhou Guangdong 510275 China State Key Laboratory of Chem/Biosensing and Chemometrics Hunan University Changsha Hunan 410082 China

Gridding dimension has been carded out in order to measure and illustrate the complexity and self-similarity of coding sequences from human genes. The fractal dimensions of DNA sequences, including exons, coding sequences and some random ones have been studied in this work. The 60 genes from human genome were the choice as samples, and the results show that the gridding dimension of the whole coding sequences is smaller than that of every exon. The conclusion was corroborated by random sequences, and by combination of fractal theory with Fourier power spectrum, it speculated that gene with fewer exons could embody more information while it was contrary for gene with more exons and some information might be stored in introns generally. These results are helpful to understand the complexity of DNA sequences.

关键词： fractal gridding dimension power spectrum exon random sequence

Genomic structure of metabotropic glutamate receptor 7 and comparison of genomic structures of extracellular domains of mGluR family

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Chinese Science Bulletin 2002年第16期47卷 1330-1336页

作者： Qingfa Wu Wei Dong Xiaohua Qi Weidong Bao Yuxin Niu Yiling Zhang Haiqing Zhang Chong Chen Bin Liu Songnian Hu et al. Chinese Acad Sci Inst Genet Beijing Gen Inst Ctr Human Genome Beijing 100101 Peoples R China

Metabotropic glutamate receptor 7, coupled with a chemical neurotransmitter L-glutamate, plays an important role in the development of many psychiatric and neurological disorders. To study the biological and genetic mechanism of the mGluR7-related diseases, a physical map covering the full-length mGluR7 genomic sequence has been constructed through seed clone screening and fingerprinting database searching. These BAC clones in the physical map have been sequenced with shotgun strategy and assembled by Phred-Phrap-Consed software; the error rate of the final genoniic sequence is less than 0.01%. mGluR7 spans 880 kb genoniic region, the GC content and repeat content of mGluR7 genoniic sequence are 38% and 37.5% respectively. mGluR7 has a typical 'house-keeping' promoter and consists of 11 exons, with introns ranging from 6 kb to 285 kb. mGluR7a and mGluR7b are two known alternatively splicing variants. Comparing the genomic structures of extracellular domains of mGluR family, their genomic structures can

关键词： metabotropic glutamate receptor physical map genome exon intron extracellular domain.

Deletion and Mutation of WWOX exons 6-8 in Human Non-small Cell Lung Cancer

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Journal of Huazhong University of Science and Technology(Medical Sciences) 2005年第2期25卷 162-165页

作者：周玉龙徐永健张珍祥 Laboratory of Respiratory Medicine Tongji Hospital Tongji Medical College Huazhong University of Science and Technology Wuhan 430030 China

Summary: To examine the deletion and point mutation of WWOX (WW domain containing oxidoreductase) exons 6-8 in human non-small cell lung cancer and their possible relationship with pathological stages, tumor tissues and the corresponding normal tissues were obtained from 44 Chinese patients who had undergone surgery for non-small cell lung cancer. RNA was extracted from each sample and deletion and mutation of WWOX exons 6-8 were analyzed by RT-PCR and DNA sequencing. Our results showed that 28 of 44 (63.6 %) lung cancer samples showed loss of WWOX exons 6-8 transcript and the deletion was detected in only 3 of 44 (6.8 %) corresponding adjacent normal tissues (Pexons 6-8 revealed no difference from the sequence of GenBank. Moreover, the deletion of WWOX exons 6-8 was significantly higher in the smokers when compared with the non-smokers. It is also higher in the men and squamous carcinomas than in women and adenocarcinomas (Pexons 6-8 in non-small cell lung cancer in Chinese patients and suggested that the frequent loss of WWOX exons 6-8 might play an important role in the tumorigenesis of non-small cell lung cancer in Chinese. WWOX exons 6-8 may serves as a candidate molecular target of smoking carcinogenesis, and point mutation is not a predominant way of alteration of WWOX exons 6-8.

关键词： non-small cell lung cancer WWOX gene exon point mutation RT-PCR cDNA-sequencing

The Prediction of Rice Gene by Fgenesh

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Agricultural Sciences in China 2008年第4期7卷 387-394页

作者： ZHANG Sheng-li LI Dong-fang ZHANG Gai-sheng WANG Jun-wei NIU Na Shaanxi Key Laboratory of Crop Heterosis Northwest A ＆ F University Yangling 712100 P.R. China Key Discipline Open Laboratory on Crop Molecular Breeding Henan Institute of Higher Learning/Henan Institute of Science andTechnology Xinxiang 453003 P.R.China School of Resources and Environmental Sciences Henan Institute of Science and Technology Xinxiang 453003 P.R.China

This study has been carried out to give some scientific reasons for genome annotation, shorten the annotating time, and improve the results of gene prediction. Taking the sequence of the 6th chromosome, which has more length sequences than others, of Oryza sativa L. ssp. japonica cv. Nipponbare as analysis data in this research, the gene prediction of monocots module, rice, has been done by using Fgenesh ver. 2.0, and the predicting results have been explored particularly by bioinformatics methods. Results showed that the number of predicted genes for this chromosome was very close to the number of TIGR annotated genes. The majority of the predicted genes were multi-exon genes which had a percentage of 77.52. Length range was very big in the predicted genes. According to the significant match number, multi-exon genes can be predicted more veracity than single exon genes and the support can be reached up to 100% by TIGR annotation and up to 78% by cDNA. From the angle of predicted exons location of multi-exon genes, the internal exons and last exons had a high support of cDNA. The length of internal exons was relatively short in high （〉95% length, 〉78% similarity） cDNA and/or TIGR annotation support multi-exon genes, but the first exons and last exons were on the reverse. The majority of single exon genes which had more than 95% in length, and 78% in similarity support by cDNA and/or TIGR annotation was relatively short in length. From the angle of exon number, the majority of the multi-exon genes of high （〉 95% length, 〉 78% similarity） cDNA and/or TIGR annotation support had no more than 5 exon number. It was concluded that the rice gene prediction by Fgenesh was very good but needed modification manually to some extent according to cDNA support after aligning the predicting sequence of genes with cDNA database of rice.

关键词： rice gene prediction cDNA annotation exon

a-1,3-N-乙酰半乳糖胺转移酶基因exon 7突变形成A311血型基因亚型

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中国实验血液学杂志 2014年第3期22卷 821-824页

作者：刘衍春刘毅赵卫军郑凌马玲薛敏吴敏慧孙俊江苏省血液中心输血研究室江苏南京210042 天津秀鹏生物技术公司天津300384

本研究对1例产生抗A抗体的血清学正反定型不符的A血型标本进行血型血清学分析及基因分析,以了解其分子基础。采用试管法进行血型血清学的检测,采用PCR-SSP对A基因进行扩增分析,采用Sanger测序法对A血型糖基转移酶基因进行测序分析。结... 详细信息

本研究对1例产生抗A抗体的血清学正反定型不符的A血型标本进行血型血清学分析及基因分析,以了解其分子基础。采用试管法进行血型血清学的检测,采用PCR-SSP对A基因进行扩增分析,采用Sanger测序法对A血型糖基转移酶基因进行测序分析。结果表明:血清学正反定型不符,初定为A亚型;PCR-SSP扩增检测结果有O、A血型基因的存在;对ABO基因第6外显子测序发现存在c.261delG,显示有O基因;对A、O基因第7外显子进行特异性扩增测序分析显示,在A单倍型基因第7外显子出现c.467 C>T、c.626 G>A的突变,在O单倍型基因第7外显子出现c.646T>A、681G>A、771C>T、829G>A等突变。结论:该献血者在A基因第7外显子的c.626G>A是新的等位基因突变,c.467 C>T是SNP;新突变的GenBank序列号是KC690281,被BGMUT命名为1个新的A等位基因亚型A311。

关键词： a-1,3-N-乙酰半乳糖胺转移酶基因 exon 7基因突变 A311血型基因亚型

Molecular cloning and analysis of the partial sequence of Rhinopithecus roxellanae growth hormone gene

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Journal of Forestry Research 2000年第1期11卷 47-50页

作者：徐来祥孔繁华华育平曲阜师范大学山东曲阜东北林业大学黑龙江哈尔滨

Growth hormone gene (GH) ofRhinopithecus roxellanae was amplified by PCR based on the sequences of the reported mammalian growth hormone gene for the first time. The amplified fragment was about 1.8 kb. It was cloned and its upper stream was sequenced. This sequencing region consists of a 5′flanking regulatory region, exon I and part of exon II, intron I of growth hormone gene. Comparing the corresponding sequences of growth hormone gene betweenRhinopithecus roxellanae and the porcine, we concluded that the homology reached 81% in the region, and there was high conservation in the 5′flanking sequence. The kinds of amino acids of exon I and exon II for about 90% were the same to those in pig. Many mutations occurred in the degenerate site of the triplet code. In the nucleotides of intron I, there were only 72% homologies with those in pig. It means that introns and 3′flanking sequence maybe play an important part in growth hormone gene regulation of the different animals.

关键词： Rhinopithecus roxellanae Growth hormone gene PCR 5′flanking regulation region exon Intron