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   classical phenylketonuria 的翻译结果: 查询用时:0.009秒
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classical phenylketonuria
相关语句
  经典型苯丙酮尿症
     Detection of PAH Gene Exon-11 Mutation of Classical Phenylketonuria in Yunnan
     云南经典型苯丙酮尿症基因Exon-11突变的检测
短句来源
     Classical phenylketonuria(PKU) is an autosomal recessive disorder caused by a deficiency of hepatic phenylalanine hydroxylase(PAH).
     经典型苯丙酮尿症(Phenylketonuria,PKU)是由于肝细胞内苯丙氨酸羟化酶(Phenylalanine hydroxylase,PAH)缺陷所致的常染色体隐性遗传病。
短句来源
     Objective:To study the mutations of the phenylalanine hydroxylase(PAH)gene and enhance the gene diagnosis of classical phenylketonuria(PKU) in Inner Mongolia.
     目的:研究内蒙古地区经典型苯丙酮尿症(PKU)苯丙氨酸羟化酶(PAH)基因突变的特点和频率,以提高该地区PKU的基因诊断率。
短句来源
     Identification of novel mutations in the phenylalanine hydroxylase gene of classical phenylketonuria
     经典型苯丙酮尿症苯丙氨酸羟化酶基因的新突变鉴定
短句来源
     DETECTION OF EXON 11 MUTATION IN PAH GENE OF CLASSICAL PHENYLKETONURIA IN INNER MONGOLIA
     内蒙古经典型苯丙酮尿症PAH基因外显子11突变的检测
短句来源
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  “classical phenylketonuria”译为未确定词的双语例句
     A study of DNA polymorphisms at the phenylalanine hydroxylase (PAH) locus was performed using 28 classical phenylketonuria (PKU) families from North China.
     本文分别分析华北地区28个苯丙酮尿症(PKU)家系苯丙氨酸羟化酶(PAH)基因限制酶切片段长度多态性(RFLP),及42个PKU家系PAH基因外显子3(Arg~(111)→终止码)及外显子6(Tyr~(204)→Cys)突变位点。
短句来源
     To characterize gene mutations in order to perform prenatal diagnosis in classical phenylketonuria in Yunnan, Exon-11 of PAH gene in 14 patients of 13 families were analysed by PCR-ASO dot blot hydridization and PCR-SSCP.
     为了探讨云南省经典型PKU基因突变特征,为基因诊断提供依据,应用PCR-ASO探针斑点杂交和PCR-SSCP分析技术,对14个PKU家系14名患儿的PAH基因Exon-11进行检测.
短句来源
     Objection:To characterize gere mutation in order to perform prental diagnosis in Classical Phenylketonuria in Yunnan, Method:Exon 4. 10 and 12 of PAH gene in 14 patients of 13 families were analysed by PCR-SSCP. PCR-cycle sequencing.
     目的:探讨云南经典PKU的基因突变特征。 方法:应用PCRˉSCP和PCR-循环测序技术对云南13个PKU家系14名患儿的PAH基因外显子4、10和12进行了检测。
短句来源
     Urinary pterin analysis, detection of dihydropteridine reductase (DHPR) activity in blood, and then BH4 loading tests were carried out to differentiate BH4 deficiency in these patients from classical phenylketonuria.
     采用尿蝶呤谱分析,红细胞二氢蝶啶还原酶(dihydropteridinereductase,DHPR)活性测定及四氢生物蝶呤负荷试验,对这些患者进行BH4缺乏症的鉴别诊断;
短句来源
  相似匹配句对
     On the Classical Taste
     论古典趣味
短句来源
     CLASSICAL CHIC
     在古典中触摸时尚
短句来源
     Identification of novel mutations in the phenylalanine hydroxylase gene of classical phenylketonuria
     经典型苯丙酮尿症苯丙氨酸羟化酶基因的新突变鉴定
短句来源
     Detection of PAH Gene Exon-11 Mutation of Classical Phenylketonuria in Yunnan
     云南经典型苯丙酮尿症基因Exon-11突变的检测
短句来源
     Gene Diagnosis of Phenylketonuria
     苯丙酮尿症的基因诊断
短句来源
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  classical phenylketonuria
Growth and body composition in children with classical phenylketonuria: Results in 34 patients and review of the literature
      
Patients with BH4 deficiency present with severe neurological signs and symptoms and .require a different treatment from classical phenylketonuria.
      
Summary: Adult subjects with classical phenylketonuria (PKU) who were diagnosed and treated neonatally participated in this long-term follow-up study.
      
Summary: Classical phenylketonuria (PKU) and mild hyperphenylalaninaemia (MHP) are two ends of the broad diagnostic spectrum in phenylalanine hydroxylase (PAH) deficiency.
      
Individual blood-brain barrier phenylalanine transport in siblings with classical phenylketonuria
      
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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...

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 locus. PCR amplification combining with oligonucleotide dot hybridization is technically feasible for prenatal diagnosis and carrier screening for PKU.

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。

A study of DNA polymorphisms at the phenylalanine hydroxylase (PAH) locus was performed using 28 classical phenylketonuria (PKU) families from North China. In the families analyzed, haplotype 4 accounted for 77% of normal chromosomes and 79% of PKU gene bearing chromosomes. Two new haplotypes, haplotypes 49 and 50, were found. On the basis of haplotype analysis,only 37%~40% of PKU carriers in North China were heterozygous and therefore informative for linkage studies. Exon 3 (Arg~(111)→stop) and exon 6(Tyr~(204)→Cys~(204))...

A study of DNA polymorphisms at the phenylalanine hydroxylase (PAH) locus was performed using 28 classical phenylketonuria (PKU) families from North China. In the families analyzed, haplotype 4 accounted for 77% of normal chromosomes and 79% of PKU gene bearing chromosomes. Two new haplotypes, haplotypes 49 and 50, were found. On the basis of haplotype analysis,only 37%~40% of PKU carriers in North China were heterozygous and therefore informative for linkage studies. Exon 3 (Arg~(111)→stop) and exon 6(Tyr~(204)→Cys~(204)) mutations of the PAH gene were studied using the polymerase chain reaction (PCR) and allele specific oligonucleotide probe hybridization in 42 PKU families from North China. These accounted for 3.6% and 9.5% of PKU mutations in North China, respectively.

本文分别分析华北地区28个苯丙酮尿症(PKU)家系苯丙氨酸羟化酶(PAH)基因限制酶切片段长度多态性(RFLP),及42个PKU家系PAH基因外显子3(Arg~(111)→终止码)及外显子6(Tyr~(204)→Cys)突变位点。RFLP单体型分析表明,华北地区人群中约77%的正常染色体与79%的PKU突变基因染色体与单体型4相关,同时发现两种新的单体型——单体型49与单体型50;在群体中只有37%的个体为单体型杂合子,并可提供连锁分析所需的信息。应用聚合酶链反应(PCR)及寡核苷酸探针杂交法检测42个PKU家系PAH基因外显子3(Arg~(111)与外显子6(Tyr~(204)的突变位点,结果表明两者分别占华北地区PKU点突变的3.6%与9.5%。

Classical phenylketonuria(PKU)is the most common inherited metabolic disease resulting in severe mental retardation in childhood.It is caused by a deficiency of phenylalanine hydroxylase(PAH).Even though PKU can be treated effectively with low phenylalanine diet,some shortcomings do exist.Many parents seek for prenatal diagnosis.Since PAH is only active in hepatocytes,it would require fetal liver biopsy;therefore ,DNA analysis is the exclusive way for prenatal diagnosis of PKU.During the past five years,we...

Classical phenylketonuria(PKU)is the most common inherited metabolic disease resulting in severe mental retardation in childhood.It is caused by a deficiency of phenylalanine hydroxylase(PAH).Even though PKU can be treated effectively with low phenylalanine diet,some shortcomings do exist.Many parents seek for prenatal diagnosis.Since PAH is only active in hepatocytes,it would require fetal liver biopsy;therefore ,DNA analysis is the exclusive way for prenatal diagnosis of PKU.During the past five years,we successfolly performed 16 cases of prenatal diagnosis and 10 cases were confirmed after delivery or abortion.Among 16 cases of prenatal diagnosis 14 were completed by using PCR-mediated allele-specific oligo-nycleotide hybridization,2 were carried out using linkage analysis by amplification of STR(short tandem repeat)within the PAH gene.and 4 were completed by PCR-SSCP.

应用聚合酶链反应-等位基因特异的寡核苷酸斑点杂交、聚合酶链反应-短串联重复序列对16例经典型苯丙酮尿症(PKU)作家系连锁分析,以及应用聚合酶链反应-单链构型多态性,对其进行产前诊断。其中10例已获验证,结果与产前诊断相符。

 
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