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phenylalanine hydroxylase
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  苯丙氨酸羟化酶
     Identification of Mutations in the Phenylalanine Hydroxylase Gene and Exon 5 Novel Mutation Y166X (C→G) in Yunnan
     云南苯丙氨酸羟化酶基因点突变及外显子5内新突变Y166X(C→G)的鉴定
短句来源
     Study on V245V Mutation of Human Phenylalanine Hydroxylase Gene in Tianjin Area
     天津地区苯丙氨酸羟化酶基因V245V突变研究
短句来源
     Mutation of the exon 5 of phenylalanine hydroxylase gene defected by SSCP analysis.
     用SSCP分析技术检测人苯丙氨酸羟化酶基因外显子5的点突变
短句来源
     Mutations in exon 5 of the phenylalanine hydroxylase (PAH) gene in patients with phenylketonuria
     苯丙酮尿症患者苯丙氨酸羟化酶基因外显子5突变鉴定
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。
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  “phenylalanine hydroxylase”译为未确定词的双语例句
     To develop a fluorescent MGB probe real time PCR platform for detection the mutation of phenylalanine hydroxylase gene in patients with phenylketonuria.
     【目的】探讨荧光MGB探针实时PCR技术检测经典型苯丙酮尿症的基因突变。
短句来源
     Objective: To analyze mutations of the phenylalanine hydroxylase(PAH) gene in suspect phenylketonuria (PKU) or high phenylalanine (HPA) heterozygotes by using molecular method, and compared with biochemical screening method.
     目的:用分子生物学方法对可疑PKU/HPA杂合子进行PAH突变基因分析,以验证生化筛查PKU/HPA杂合子方法的可行性。
短句来源
     Backgrounds and Objective Phenylketonuria is the most common autosomal recessive disorder of amino acid metabolism resulted from a deficiency in phenylalanine hydroxylase, the enzyme that converts phenylalanine to tyrosine.
     背景与目的 苯丙酮尿症(Phenylketonuria,PKU)是最常见的氨基酸代谢障碍性疾病之一,属常染色体隐性遗传病。
短句来源
     Methods: Three gene diagnosis methods, polymerase chain reaction short tandem repeats (PCR STR)、 allele specific PCR(ASPCR) and PCR single strand conformation polymorphism(PCR SSCP)were used to analyze phenylalanine hydroxylase (PAH)gene of 4 familes affected with phenylketonuria(PKU) .
     方法 :联合采用 PCR- STR、ASPCR和 PCR- SSCP 3种基因诊断方法进行分析。
短句来源
     The activities of phenylalanine hydroxylase were estimated by ①the slope of Tyr abundance curve, ②the slope of Tyr/Phe abundance ratio curve, ③the area under Tyr abundance curve, and ④the area under Tye/Phe abundance ratiocurve.
     ②~2H-Tyr/~2H-Phe丰度比的上升斜率。 ③~2H-Tyr丰度时相曲线下的面积。
短句来源
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  相似匹配句对
     Study on Mutations of Phenylalanine Hydroxylase Gene
     苯丙氨酸羟化酶基因部分外显子突变研究
短句来源
     Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
     四氢生物蝶呤反应性苯丙氨酸羟化酶缺乏症
短句来源
     BIOSYNTHESIS OF L-PHENYLALANINE
     L-苯丙氨酸的生物合成
短句来源
     Determination of Phenylalanine by Deaminase
     苯丙氨酸的脱氨酶法测定
短句来源
     Tyrosine Hydroxylase and Parkinson Disease
     酪氨酸羟化酶与帕金森病的关系研究
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  phenylalanine hydroxylase
The spectrum of mutations and methods for their detection in the phenylalanine hydroxylase gene in phenylketonuria patients from
      
Phenylketonuria (PKU) is a widespread autosome recessive hereditary disease caused by a deficiency of the liver enzyme phenylalanine hydroxylase, which results in distortion of metabolism of phenylalanine and accumulation of toxic metabolites.
      
This disease is known to be associated with mutations in the phenylalanine hydroxylase gene, the distribution and mutation spectrum having pronounced ethnic and regional features.
      
We studied the spectrum of mutations in the phenylalanine hydroxylase gene in a group of patients with PKU from the Novosibirsk region to reveal 10 missense point mutations, 1 mutation in the splice donor site, and 1 microdeletion.
      
The mutation R408W of the human phenylalanine hydroxylase gene was used as a model.
      
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Phenylketonuris (P K U) is congenital disease of metabolism. The causeis laek of phenylalanine hydroxylase. The clrnical manifestations of ill chil-dren are mental deficiency, spasm, yellow hair, urine with a smell of amouse's and so on. The EEG showed changes of different degrees. Amongthe 32 cases, 22 were males and 10 were females. The youngest age was 4months and the eldest age was 14 years. Abnormal rate of EEG was 43. 8%.The EEG showed hypsarrhythmia, paroxysmal disordered spike-and-slow wavecomplex...

Phenylketonuris (P K U) is congenital disease of metabolism. The causeis laek of phenylalanine hydroxylase. The clrnical manifestations of ill chil-dren are mental deficiency, spasm, yellow hair, urine with a smell of amouse's and so on. The EEG showed changes of different degrees. Amongthe 32 cases, 22 were males and 10 were females. The youngest age was 4months and the eldest age was 14 years. Abnormal rate of EEG was 43. 8%.The EEG showed hypsarrhythmia, paroxysmal disordered spike-and-slow wavecomplex and slow background activity. All were extensive abnormal changeswithout any local change. The ill children were accompanied with seriousmental deficiency, increase of phenylalanine in concentration and spasm.Their EEG showed obvious changes, and therefore the EEG patterns canprovide a reference for the observation of the patien'cotsndition, theircurative effect and prognosis.

苯丙酮尿症(PKU)是一种先天性代谢性疾病,因缺乏苯丙氨酸羟化酶而发病。患儿多表现智力低下、抽搐、发黄、鼠尿味等。脑电图(EEG)均为广泛异常改变,无局灶改变。血苯丙氨酸(PHE)浓度增高及抽搐者,EEG可有明显改变。因此PKU之EEG改变特点可为病情的估计,疗效的观察及预后提供参考。

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。

An anti-Phenylalanine hydroxylase monoclonal antibody form mice ascites fluid was purified by DEAE-52 ion-exchange chromatography, and then the FPLC was used for further purification. The L- and H-chain of the antibody were separated by Superose 12 column for gel filtration on FPLC. The light-chain has a molecular weight of approximately 24 kD,and containning 215 residues.The heavy-chain has a molecular weight of approximately 52 kD. The NH2-terminal sequence of the L-chain determined by sequential Edman...

An anti-Phenylalanine hydroxylase monoclonal antibody form mice ascites fluid was purified by DEAE-52 ion-exchange chromatography, and then the FPLC was used for further purification. The L- and H-chain of the antibody were separated by Superose 12 column for gel filtration on FPLC. The light-chain has a molecular weight of approximately 24 kD,and containning 215 residues.The heavy-chain has a molecular weight of approximately 52 kD. The NH2-terminal sequence of the L-chain determined by sequential Edman degradation,is shown below. D-V-V-M -T-Q-T-P-L-S-L-P-V-S-L-G-D-Q-A-S-I-S-C-R-S-D?-Q-N(D)-The NH2-terminus of the H-chain is blocked with pyroglutamine.

利用DEAE-52离子交换层析和FPLC的Mono Q离子交换柱,从鼠的腹水液中提纯抗苯丙氨酸羟化酶单克隆抗体,再利用FPLC的Superose 12凝胶柱分离它们的轻链和重链。经SDS-凝胶电泳,氨基酸组成分析和N端顺序测定,确定轻链的分子量约为24 kD,约含有215个残基,轻链的N端的顺序是:D-V-V-M-T-Q-T-P-L-S-L-P-V-S-L-G-D-Q-A-S-I-S-C-R-S-D?-Q-N(D)-,并确认该轻链为鼠KaPPa轻链Ⅱ型。重链的分子量约为52 kD,它的末端被焦谷氨酰封闭。

 
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