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   突变数据库 的翻译结果: 查询用时:0.469秒
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突变数据库
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  mutation database
     Expanding the COL7A1 mutation database: Novel and recurrent mutations and unusual genotype-Phenotype constellations in 41 patients with dystrophic epidermolysis bullosa
     扩展COL7A1突变数据库:41例营养不良性大疱表皮松解症患者中新发和再发突变及少见的基因型-表型相互影响因素
短句来源
     This review is to classify the existing human mutation databases, including mutation database, SNP(single nucleotide polymorphisms) databases, mutation databases about disease, mutation databases about proteins, mutation databases about map and mutation information about specific gene. We also give advice on how to utilize these mutation databases, and discuss problems of existing databases.
     根据各种数据库的功能,对目前的人类突变相关数据库资源进行了分类总结,分类为突变数据库、单核苷酸多态信息数据库、与疾病相关的突变数据库、突变对蛋白质的影响、突变图谱以及特定基因的突变信息,分析该如何合理使用这些遗传突变数据资源,以及目前的突变数据库所存在的问题。
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  “突变数据库”译为未确定词的双语例句
     This method was applied to a testing dataset of more than 2 600 point mutants belong to 11 proteins collected from Protein Mutant Database (PMD).
     使用蛋白质突变数据库(Protein Mutant Database,PMD)里的11个蛋白共2600多个点突变的数据集,对以上模型进行了验证。
短句来源
     The Application of Human Mutation Databases
     人类遗传突变数据库及其应用
短句来源
     Methods Oligonucleotide chip which spoted 7 altofrequency mutation sites according to international data base of p53 gene mutation was designed,and p53 point mutation was detected with the technique of oligonucleotide chips.
     方法 :参照国际公共p5 3突变数据库资料发生频率最高的 7个突变类型作为检测探针设计寡核苷酸芯片 ,应用该种寡核苷酸芯片技术检测肝癌抑癌基因p5 3上对应的 7个常见突变位点的突变频率及突变类型。
短句来源
     Seven novel mutations were identified:G239D, R241fsdelG, G247S, E280G, L255S, R261Q, P281L. These new mutations have not been described in Chinese PKU population and the first four mutants have not been reported and thus been submitted to www. pahdb,mcgill.
     G239D、R241fs、G247S、E280G、L255S、R261Q、P281L,前4种在国际上尚未见到报道,并已提交到国际PAH突变数据库(www.pahdb.mcgill.ca)。
短句来源
     1203C>A (p.H401Q) mutation was reported. Conclusions Two mutations including a novel missense mutations (c.1203C>A, p.H401Q) in the WT1 gene are identified in two Chinese children with DDS.
     其中第1203位碱基C→A突变,p.H401Q(c.1203C>A),在国内外文献及突变数据库中均未见报道,属新发现的突变。
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  相似匹配句对
     Database
     数据库
短句来源
     The Application of Human Mutation Databases
     人类遗传突变数据库及其应用
短句来源
     Cryptograph Protection for Databases
     数据库的密码保护
短句来源
     A Quiet Mutation
     微妙突变
短句来源
     Mutations obtained were compared with the Human Gene Mutation Database.
     将所得突变类型与人类基因突变数据库(HGMD)核对。
短句来源
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  mutation database
Using the dystrophin gene as a model, we have designed two MLPA probe multiplexes that are specific to a number of commonly listed point mutations in the Leiden dystrophin point mutation database (http://www.dmd.nl).
      
Mutation analysis in keratins 5/14 (K5/14) had been performed in five Polish families with epidermolysis bullosa simplex (EBS) to extend genotype-phenotype correlation and to add to the mutation database.
      
Data on these mutations and their associated phenotypes have been collated and are available online through two major databases: Online Mendelian Inheritance in Man in Baltimore and the Human Gene Mutation Database in Cardiff.
      
Finally, once mutations are discovered they need documenting accurately and the efforts of the Human Genome Organisation mutation database initiative due this direction are discussed.
      
Their list is maintained at the Human Genome Organisation mutation database initiative website.
      
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Exon 7 of the phenylalanine hydroxylase (PAH) gene was analyzed in 45 children affected with classic genylketonuria (PKU) from northern China by using PCR-single strand conformation polymorphism (PCR-SSCP) technique and DNA direct sequencing. Six missense mutations (i.e. R243Q . R241H, G247V, L249H; P254I and G257V) and one silent mutation (V245V) . were identified. The latter three missense mutations were demonstrated as novel mutations in comparison with the PAH mutation Database. One missense mutation (R241H)...

Exon 7 of the phenylalanine hydroxylase (PAH) gene was analyzed in 45 children affected with classic genylketonuria (PKU) from northern China by using PCR-single strand conformation polymorphism (PCR-SSCP) technique and DNA direct sequencing. Six missense mutations (i.e. R243Q . R241H, G247V, L249H; P254I and G257V) and one silent mutation (V245V) . were identified. The latter three missense mutations were demonstrated as novel mutations in comparison with the PAH mutation Database. One missense mutation (R241H) was first documented in Chinese. Our results showed population and regional differences in the PAH mutation distribution and suggest thatthere is more than one foundiog population for PKU in China, The finding of novel mutations will enhance our capability in molecular diagnosis of PKU.

应用PCR-单链构象多态性分析及DNA直接测序,对45例中国北方苯丙酮尿症(PKU)患者苯丙氨酸羟化酶(PAH)基因外显子7内突变进行了鉴定。共检出6种错义突变及一种静止突变:R243Q.R41H,G247V.L249H.P254I.G257V和V245V。经与国际PAH基因突变数据库比较,确认G257V.P254I和L249H为国际上首次发现的突变。结果揭示,中国人与其他种族及中国北方与南方人群PAH突变特点不同。明确了中国北方人群中PAH基因外显子7基因突变分布,有助于提高PKU的基因诊断率,对基因的起源、进化研究有参考价值

Objective To identify the mutations of the phenylalanine hydroxylase gene in Yunnan so as to enhance the gene diagnosis of classcial phenylketonuria (PKU) in that south western province of China. Methods Exons 4,5,6,7,10,11 and 12 of the phenylalanie hydroxylase (PAH) were analyzed in 13/14 children affected with classical PKU from Yunnan by using PCR single strand conformation polymophism (PCR SSCP), PCR ASO dot blot hybridization, allele spectific polymearse chain reaction (ASPCR) and PCR driect sequencing....

Objective To identify the mutations of the phenylalanine hydroxylase gene in Yunnan so as to enhance the gene diagnosis of classcial phenylketonuria (PKU) in that south western province of China. Methods Exons 4,5,6,7,10,11 and 12 of the phenylalanie hydroxylase (PAH) were analyzed in 13/14 children affected with classical PKU from Yunnan by using PCR single strand conformation polymophism (PCR SSCP), PCR ASO dot blot hybridization, allele spectific polymearse chain reaction (ASPCR) and PCR driect sequencing. Results Five missense mutations, i.e. R243Q (5/26), Y204C(3/28), G247V(1/26), R413P(2/28) and T418P(1/28); three nonsense mutations, i.e. Y166X (C→G) (2/26), W326X(1/28) and Y356X(2/26); and one silent mutation (V399V) (2/26) were identified. The nonsense mutation Y166X(C→G) should be a novel mutation as compared with the PAH Mutation Database.Conclusion Five kinds of popular PAH gene mutation (R243Q, Y204C, V399V, Y356X and R413P) indentified in the people of Yunnan are similar to those in the northern people, but such characteristic is different from that in the southern people. This finding will enhance the efficacy in gene diagnosis of PKU and will be of reference value for studies of population and regional difference in the pattern of PAH mutation distribution.

目的研究云南苯丙氨酸羟化酶基因点突变分布概况,以提高该地区苯丙酮尿症(PKU)的基因诊断率。方法应用PCR-ASO探针斑点杂交,PCR-SSCP、ASPCR和DNA直接测序等技术,对13/14名云南籍PKU患儿的苯丙氨酸羟化酶(PAH)基因外显子4、5、6、7、10、11和12进行了鉴定分析。结果共检出5种错义突变:R243Q(5/26)、Y204C(3/28)、R413P(2/28)、T418P(1/28)及G247V(1/26),3种无义突变Y166X(C→G)(2/26)、W326X(1/28)及Y356X(2/26)和1种静止突变V399V(2/26)。经检索国际PAH基因突变数据库,其中Y166X(C→G)为首次发现的新突变。结论云南藉PKU与中国北方人群有相类似的最常见的PAH基因突变类型(R243Q、Y204C、Y356X、V399V和R413P),但与南方人群PAH基因突变特点则不同。该发现有助于提高云南PKU的基因诊断率,并对我国PAH基因突变不同地区及人群的分布、起源研究有参考价值。

Objective To study the etiological clues involved (in esophageal cancer in Linzhou, Henan, a high-incidence area for esophageal cancer) by analyzing p53 mutational spectrum from esophageal precancerous and cancerous lesions.Methods Using bolt bioinformatic and Monte Carlo methods to analyze p53 mutation spectra from "The IARC Database of Somatic p53 Mutations in Human Tumors and Cell Lines", "p53 Database at Institute Curic" and to establish a local database based on these data using the FileMark Pro...

Objective To study the etiological clues involved (in esophageal cancer in Linzhou, Henan, a high-incidence area for esophageal cancer) by analyzing p53 mutational spectrum from esophageal precancerous and cancerous lesions.Methods Using bolt bioinformatic and Monte Carlo methods to analyze p53 mutation spectra from "The IARC Database of Somatic p53 Mutations in Human Tumors and Cell Lines", "p53 Database at Institute Curic" and to establish a local database based on these data using the FileMark Pro 3.0 software to allow fast and off-line analysis on a PC from the authors' laboratory. Results We found that esophageal squamous cell carcinomas from Linzhou had a lower prevalence of base substitutions associated with strand bias than those from other areas ( 32.8% vs 39.8%). However, a higher prevalence of G∶ C→ A∶T transitions at CpG site ( 29.6% vs 16.4%) was found. Esophageal squamous cell carcinomas from Linzhou displayed a distinctive profile of mutation hotspots, including codons 273 (covers 11.3% of all missense mutations), 175 ( 9.7%),158 ( 9.7%), 159 ( 6.5%) and 282 ( 6.5%), all of which were at the CpG site. Statistical analysis showed that the p53 mutation profiles between esophageal squamous cell carcinomas from Linzhou and those from other areas were different ( P= 0.02). The p53 mutation profiles of esophageal squamous cell carcinomas from Linzhou and from other areas were also different from cancer of the head and neck.Conclusion Data showed that the p53 mutational spectrum of esophageal squamous cell carcinomas from Linzhou baring the characteristics of those caused both by endogenous and exogenous mutagenic agents, suggesting the potential involvement of chronic inflammation, unique dietary habits and carcinogen exposure in the pathogenesis of esophageal squamous cell carcinoma in Linzhou.

目的 分析河南省林州市与其他地区食管癌前病变和鳞状细胞癌 p5 3突变谱 ,探讨食管癌变的发病因素。方法 采用生物信息学和MonteCarlo方法 ,依据IARCp5 3突变数据库、Curic研究院 p5 3突变数据库和郑州大学医学院癌症研究所实验室的资料 ,用FileMarkPro3 .0软件系统建立局部资料库进行分析。结果 林州食管癌高发区食管鳞癌碱基替换的发生率低于其他地区食管鳞癌的发生率 ( 3 2 .8%vs 3 9.8% ) ,但CpG位点G∶C→A∶T的发生率高于其他地区食管癌 ( 2 9.6%vs16.4% )。林州食管癌突变位点具有明显的特征 ,主要发生在 2 73 (占所有错义突变的 11.3 % )、175( 9.7% )、15 9( 6.5 % )和 2 82 ( 6.5 % )位密码子的CpG位点上。林州地区食管鳞癌 p5 3突变与其他地区食管鳞癌以及头颈部鳞癌 p5 3突变相比 ,差异有显著性 ( P =0 .0 2 )。结论 林州食管癌 p5 3突变具有内、外源致癌原所致突变的特征 ,提示慢性炎症、饮食习惯和接触致癌原 ,可能是林州居民发生食管鳞癌的主要危...

目的 分析河南省林州市与其他地区食管癌前病变和鳞状细胞癌 p5 3突变谱 ,探讨食管癌变的发病因素。方法 采用生物信息学和MonteCarlo方法 ,依据IARCp5 3突变数据库、Curic研究院 p5 3突变数据库和郑州大学医学院癌症研究所实验室的资料 ,用FileMarkPro3 .0软件系统建立局部资料库进行分析。结果 林州食管癌高发区食管鳞癌碱基替换的发生率低于其他地区食管鳞癌的发生率 ( 3 2 .8%vs 3 9.8% ) ,但CpG位点G∶C→A∶T的发生率高于其他地区食管癌 ( 2 9.6%vs16.4% )。林州食管癌突变位点具有明显的特征 ,主要发生在 2 73 (占所有错义突变的 11.3 % )、175( 9.7% )、15 9( 6.5 % )和 2 82 ( 6.5 % )位密码子的CpG位点上。林州地区食管鳞癌 p5 3突变与其他地区食管鳞癌以及头颈部鳞癌 p5 3突变相比 ,差异有显著性 ( P =0 .0 2 )。结论 林州食管癌 p5 3突变具有内、外源致癌原所致突变的特征 ,提示慢性炎症、饮食习惯和接触致癌原 ,可能是林州居民发生食管鳞癌的主要危险因素

 
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