外显子      exon 7(141) (exon 7(0) exons 7(7) exon 7)(0)   exon 7      Four gene polymorphisms were identified in exon 7.They were Gly551X(GGC→GGT),Arg554His(CGT→CAT),Gln567Arg(CAA→CGA) and Val582Ile(GTC→ATC).      同时在外显子7上发现4个位点的基因多态性,分别为Gly551X(GGC→GGT)、Arg554His(CGT→CAT)、Gln567Arg(CAA→CGA)和Val582Ile(GTC→ATC)。 短句来源      Four new gene polymorphisms were detected in exon 7 in normal Chinese people,which were Gly551X,Arg554His,Gln567Arg and Val582Ile.      新发现中国人外显子7的4个位点基因多态性,分别为Gly551X、Arg554His、Gln567Arg和Val582Ile。 短句来源      Analysis of Polymorphism in Exon 7 of Human Cytochrome P4501A1 Gene in Chinese      中国人细胞色素P4501A1基因外显子7的多态性分析 短句来源      11 of 34 mutant genes were in 5～6 exon, 8 were in exon 7,15 in exon 8;      11例出现在外显子 5～ 6,8例出现在外显子 7,15例出现在外显子 8。 短句来源      Methods For 4 patients with FH detected by PCR SSCP and DNA sequence analysis (1 homozygote has point mutation in exon 7, 1 heterozygote in exon 14,and 2 heterozygotes in 3′ part of exon 4 ),members of each pedigree, altogether 23 individuals,were analysed using PCR SSCP.      方法　对于经 PCR- SSCP筛查、DNA序列分析证实的 4例 FH患者 (1例纯合子 FH外显子 7发生点突变 ,1例杂合子点突变位于外显子 14,2例杂合子点突变位于外显子 4的 3′部分 ) ,用 PCR- SSCP分析各家系成员共 2 3例 ,并对基因型和表型进行比较。 短句来源 更多          exons 7      Objective:To investigate mutational spectra of Ki-ras gene exons 1,2 and p53 gene exons 7,8 in patients with lung squamous cancer and lung adenocarcinoma and to look into prognosis of patients with Ki-ras or p53 mutation and with no mutation.      目的 :研究肺鳞癌、腺癌与Ki-ras基因外显子 1,2及p5 3基因外显子 7,8突变谱并观察肺鳞癌、腺癌预后同Ki-ras和 p5 3基因突变的关系。 短句来源      Results A total of 37 SMA patients and 20 cases of the normal controls and 20 cases of the SMA patients' parents were analyzed. The exons 7 and 8 of SMN gene were found to be deleted in 92%(34/37) and 89%(33/37) patients respectively.      结果37例SMA患者中SMN基因外显子7缺失者占92％（34／37），外显子8缺失者占89％（33／37），3％（1／37）的患者外显子7缺失而保留外显子8； 短句来源      One targeted ES clone was found by Southern blot and PCR to have 2 flanking loxP of exons 7 and 8. Conclusion The ES clones with FGFR2 conditional knockout were established successfully.      最后经Southern和PCR检测发现1株ES细胞克隆仍 保留外显子7、8两侧的loxP序列。 结论　FGFR2条件性基因敲除ES细胞已成功构建。 短句来源      Methods: We detected the MI in 45 cases of bladder carcinoma by polymerase chain reaction using microsatellite markers such as D2S119 and D2S123. We also analyzed the mutation of hMSH2 gene exons 7, 8, 15 in the MI cases by using polymerase chain reaction single strain conformation polymorphism (PCR SSCP) silver staining analysis.      方法：应用D2S119及D2S123两个微卫星位点标记，PCR法检测45例膀胱癌标本微卫星不稳定； PCR－SSCP银染法分析hMSH2基因外显子7、8、15突变情况。 短句来源      Eleven point mutations were determined in 29 cases of PKU. The mutation located in exons 7,6,12 and 3 were most frequent mutations;      检出11种点突变，其中外显子7、6、12和3是最常见的突变，分别占37．9％、15．5％、13．8％和10．3％。 短句来源 更多          “外显子7”译为未确定词的双语例句      There were no significant difference of p53 mutations or p53 protein respectively between cervical cancer and dysplasia (mutation: P >0.9;expression: P >0.1).      无论 p5 3外显子 7- 8突变还是 p5 3蛋白阳性在宫颈癌与不典型增生之间均无显著差异 (突变 :P>0 .9;表达 :P>0 .1) ,在宫颈癌与宫颈慢性炎症之间均有显著差异 (突变 :P<0 .0 2 ;表达 :P<0 .0 0 1)。 短句来源      We select two cSNP as genetic markers of GDI1. One is rsll549300 SNP in eighth extron of GDI1 gene, the other is rs2276462 SNP in seventh extron of GDI1 gene.      选择GDI1基因外显子8上的rs11549300SNP和外显子7上的rs2276462 SNP两个功能位点,作为该基因的标记。 短句来源      Results:The mutation of G894T was found in 5 of 16 patients in CAS group but none in the control group.      结果 :eNOS基因外显子 7的测序结果显示CAS组中有 5例发生G894T的突变 ,而对照组中无一例突变。 短句来源      Mapping of all intragenic deletion breakpoints showed a random distribution of breakpoints in 9 exons,but toward the 3′ end of the HPRT gene.      HPRT基因突变位点在各个外显子的分布较集中于基因的3′末端，且外显子1缺失只出现于全基因缺失中，外显子7/8与9多表现为连锁缺失(71.4％)。 短句来源      AIM:To study the relation of cerebral infarction(CI) with G894T mutation of ni tricoxide synthase(NOS) gene polymorphism.      目的:研究脑梗死与一氧化氮合酶(nitricoxidesynthase,NOS)外显子7处第894位G被T替代的多态性突变的关系。 短句来源 更多        查询“外显子7”译词为用户自定义的双语例句     我想查看译文中含有：的双语例句 为了更好的帮助您理解掌握查询词或其译词在地道英语中的实际用法，我们为您准备了出自英文原文的大量英语例句，供您参考。   exon 7 Deletions of exon 7 of the SMN1gene were found in 96% of the individuals examined. 例句来源       The frequency of homozygous isolated deletion of the SMN1gene exon 7 among the SMA patients was 4.3%. 例句来源       Molecular genetic analysis of the I462V mutation in exon 7 of the CYP1A1gene demonstrated close similarity between the genotype and allele frequency distribution patterns in the industrial and control groups. 例句来源       Nucleotide and deduced amino acid sequences of two cloned FLC fragments (from exon 2 to exon 7) were compared to the previously characterized FLC genes in arabidopsis and FLC homologs in other Brassicaceae species. 例句来源       Homozygous exon 7 deletion of the SMN centromeric gene (SMN2): A potential susceptibility factor for adult-onset lower motor neu 例句来源       更多             (exon 7 Deletions of exon 7 of the SMN1gene were found in 96% of the individuals examined. 例句来源       The frequency of homozygous isolated deletion of the SMN1gene exon 7 among the SMA patients was 4.3%. 例句来源       Molecular genetic analysis of the I462V mutation in exon 7 of the CYP1A1gene demonstrated close similarity between the genotype and allele frequency distribution patterns in the industrial and control groups. 例句来源       Nucleotide and deduced amino acid sequences of two cloned FLC fragments (from exon 2 to exon 7) were compared to the previously characterized FLC genes in arabidopsis and FLC homologs in other Brassicaceae species. 例句来源       Homozygous exon 7 deletion of the SMN centromeric gene (SMN2): A potential susceptibility factor for adult-onset lower motor neu 例句来源       更多             exons 7 The frequency of homozygous deletion of exons 7 and 8 of the SMN1gene was 65%. 例句来源       Deletion of exons 7 and 8 of the SMN1gene was the most common mutation associated with SMA in patients from the northwestern Russia. 例句来源       The fragment included an unspliced intron, which pitched between exons 7 and 8. 例句来源       Exons 7 and 8 encode the remainder of the cytoplasmic tail and 3'UT sequences. 例句来源       We have detected a hitherto undescribed 2.5-kb deletion, which mapped to the central region of the gene, and most likely includes all of exons 7 and 8. 例句来源       更多             exon 7) Deletions of exon 7 of the SMN1gene were found in 96% of the individuals examined. 例句来源       The frequency of homozygous isolated deletion of the SMN1gene exon 7 among the SMA patients was 4.3%. 例句来源       Molecular genetic analysis of the I462V mutation in exon 7 of the CYP1A1gene demonstrated close similarity between the genotype and allele frequency distribution patterns in the industrial and control groups. 例句来源       Nucleotide and deduced amino acid sequences of two cloned FLC fragments (from exon 2 to exon 7) were compared to the previously characterized FLC genes in arabidopsis and FLC homologs in other Brassicaceae species. 例句来源       Homozygous exon 7 deletion of the SMN centromeric gene (SMN2): A potential susceptibility factor for adult-onset lower motor neu 例句来源       更多                    Exon 3 termination mutation of phenylalanine hydroxylase (PAH) gene, the only identified one causing classical phenylketonuria (PKU) in Chinese, was detected in fourteen PKU children from Xi'an. The genomic DNA from these patients was amplified by polymerase chain reaction(PCR) and dot hybridied with specific oligonucleotide probes. This mutation is not present in any of these affected children, which indicates that phenylketonuria in Chinese may be caused by other mutations in phenylalanine hydroxylase loc...             本文应用PCR和核酸杂交技术,在西安地区14例PKU患儿中检测了目前中国人中唯一确定引起PKU的PAH基因外显子3终止突变,结果发现这些患者的PAH基因均无终止突变,提示在我国有可能因PAH基因其它部位突变导致PKU的发生。我们体会DNA体外PCR扩增结合寡核苷酸探针点杂交方法可用于PKU的产前诊断和携带者检出。 文摘来源          Applying recombinant DNA techni- ques,the structures of red pigment gene(RPG)and green pigment gene(GPG)were analyzed for 43 pa- tients with protan or deutan(including 3 females),4 normal reladves and 3 carriers out of 3 families,as well as 11 normal controls.Abnormality of RPG was detected in all 19 protan and that of GPG was found in 14 out of 24 deutan.In about 80%(32/40) of protan and deutan the changing of exon 5 for RPG or GPG was discovered.In protan the normal RPG was replaced by a 5' red —3' green ...             应用分子杂交技术对43例先天性红与绿色觉异常患者(包括3例女性患者)、3个色觉异常家系的4名正常亲属及3名携带者、11例正常人的色觉基因进行了分析,发现100%(19/19)的红色觉异常、58%(14/24)的绿色觉异常可以发现红或绿色觉基因的异。80%(32/40)的患者可检测到红或绿色觉基因第5个外显子部分的改变。红色觉异常主要是正常红色觉基因被5′红—3′绿杂种基因替代所致;绿色觉异常主要是绿色觉基因完全缺失或形成5′绿—3′红杂种基因所致。另外,应用聚合酶链反应法可以较容易地检测出色觉基因第5个外显子的改变。 文摘来源          In this paper,we analyse Xba I/FⅧ_(E22)RFLP in the population of Suzhou usinga intragenic factor Ⅷ cDNA probe FⅧ_(E22).The results show 9.6/4.8 K b poly-morphism,and their frequency are 0.36/0.64 respectively.The value of PIC is 0.46Based on this polymorphism,carrier detection of hemophilia A was performed.             用FⅧ基因内第22外显子FⅧ_(E22)为探针,分析苏州地区正常人XbaI/FⅧ_(E22)RFLP,显示出9.6/4.8Kb 的多态性,频率为0.36/0.64.PIC 值为0.46。并以此为基础对1例甲型血友病携带者进行检测。 文摘来源   << 更多相关文摘         相关查询: 7外显子 外显子7基因 基因外显子7 7号外显子 exon7外显子 第7外显子 7) 7’ 外显子 ．7 7℃ ～7  对查询结果不满意

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