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脊髓性肌萎缩症sma
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  “脊髓性肌萎缩症(sma)”译为未确定词的双语例句
     Objective To investigate the correlation between the copy number of survival of motor neuron gene 2(SMN2) as to the phenotype and elucidate the pathogenesis of spinal muscular atrophy(SMA).
     目的探讨运动神经元生存基因2(SMN2)拷贝数与临床表型的关系,进一步阐明脊髓性肌萎缩症(SMA)的发病机制。
短句来源
     Objective To study the clinico pathologic features of childhood spinal muscular atrophy (SMA) and its significance.
     目的 总结 4 2例儿童型 (I~III型 )脊髓性肌萎缩症 (SMA)的临床与病理特征 ,以探讨儿童型SMA临床与病理学特征及其意义。
短句来源
     Objective To establish a gene diagnosis assay for spinal muscular atrophy(SMA) in children.
     目的探讨儿童脊髓性肌萎缩症(SMA)的特异性基因诊断方法。
短句来源
     Objective To detect the difference of SMN2 mRNA expression between the neuron-like cells(NLCs)derived from patients with spinal muscular atrophy(SMA).
     目的检测脊髓性肌萎缩症(SMA)患者神经元样细胞 SMN2基因 mRNA 的表达。
短句来源
     Objectives 1.To make the gene diagnosis system perfect.
     目的:1、进一步完善脊髓性肌萎缩症(SMA)的基因诊断体系。
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     Genetic diagnosis and gene sequencing of spinal muscular atrophy
     脊髓萎缩症基因诊断
短句来源
     Objective:To investigate methods for prenatal diagnosis of spinal muscular atrophy.
     目的:探讨脊髓萎缩症(SMA)产前基因诊断的方法。
短句来源
     Objective To study the feasibility of clinical application of detection of SMN T gene in Chinese patients diagnosed as spinal muscular atrophy (SMA).
     目的探讨中国人脊髓萎缩症SMA)基因诊断的可行
短句来源
     Objective To establish a gene diagnosis assay for spinal muscular atrophy(SMA) in children.
     目的探讨儿童脊髓萎缩症(SMA)的特异基因诊断方法。
短句来源
     Objective: To establish a gene diagnosis assay for spinal muscular atrophy (SMA) in children.
     目的 :建立儿童型脊髓萎缩症 (SMA)的特异基因诊断。
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  spinal muscular atrophy (sma)
We investigated the course and outcome of pregnancy and its influence on muscle weakness in 12 females with proximal spinal muscular atrophy (SMA) who delivered a total of 17 infants when aged 18-32 years.
      
Most spinal muscular atrophy (SMA) patients lack the survival motor neuron gene (SMN).
      
Childhood spinal muscular atrophy (SMA) is a common autosomal recessive disorder which is characterized by muscle weakness due to degeneration of motoneurons in the spinal cord and brainstem nuclei.
      
On pathological examination of the spinal cord we found ballooned neurons, neuronophagia and gliosis in family A, which have been regarded as characteristic pathological features of infantile-onset spinal muscular atrophy (SMA).
      
Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder that is characterized by degeneration of the anterior horn cells of the spinal cord, which leads to the axial and limb weakness associated with muscle atrophy.
      
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A new method of mismatching PCR-RFL P was performed in our lab in ge- netic diagnosis of spinal muscular atrophy(SMA) and controls.Our data shows:9cases in 1 0 presumed SMA children are positive,i.e. deletion of telomeric SMN gene.One case is negative.2 0 cases of normal familial members and2 0 cases of normal controls are all nega- tive.Our results matches the criteria and reports of foreign countries.The method we used is highly specific,sensitive and useful and is suittable for genetic diagnosis of SMA...

A new method of mismatching PCR-RFL P was performed in our lab in ge- netic diagnosis of spinal muscular atrophy(SMA) and controls.Our data shows:9cases in 1 0 presumed SMA children are positive,i.e. deletion of telomeric SMN gene.One case is negative.2 0 cases of normal familial members and2 0 cases of normal controls are all nega- tive.Our results matches the criteria and reports of foreign countries.The method we used is highly specific,sensitive and useful and is suittable for genetic diagnosis of SMA and its prenatal diagnosis.

我们运用错配 PCR- RFLP方法对脊髓性肌萎缩症 ( SMA)患者和对照组进行了基因诊断的研究。结果发现临床诊断为 SMA的患儿 10例中有 9例出现端粒 SMN基因缺失而确认为阳性 ,1例阴性 ;正常家系成员 2 0例及正常对照组 2 0例均为阴性。此与国外报道相符。该法特异性高、敏感性好 ,实用可靠 ,适用于 SMA的基因诊断和胎儿的产前诊断

Objective To study the feasibility of clinical application of detection of SMN T gene in Chinese patients diagnosed as spinal muscular atrophy (SMA). Methods Polymerase chain reaction single strand conformation polymorphism (PCR SSCP) was used to detect the deletions of exons 7 and 8 of telomere of survival motor neuron (SMN T) gene in 20 SMA patients from 16 families and in 20 normal controls. Results 20 of 20 SMA patients (100%) lacked the SMN T exon 7, 19 of 20 SMA patients (95%) lacked the SMN...

Objective To study the feasibility of clinical application of detection of SMN T gene in Chinese patients diagnosed as spinal muscular atrophy (SMA). Methods Polymerase chain reaction single strand conformation polymorphism (PCR SSCP) was used to detect the deletions of exons 7 and 8 of telomere of survival motor neuron (SMN T) gene in 20 SMA patients from 16 families and in 20 normal controls. Results 20 of 20 SMA patients (100%) lacked the SMN T exon 7, 19 of 20 SMA patients (95%) lacked the SMN T exon 8, while all of 20 normal controls without lack of the SMN T exons. Conclusion Direct identification of SMN T gene deletions could be recommended as an accurate and quick diagnostic method for patients with SMA.

目的探讨中国人脊髓性肌萎缩症(SMA)基因诊断的可行性。方法应用聚合酶链反应单链构象多态(PCRSSCP)技术研究来自16个家系的20例SMA患者及20名正常对照的运动神经元生存(SMN)基因的第7、8号外显子的缺失情况。结果20例患者均缺失端粒SMN(SMNT)基因的第7号外显子,19例患者缺失第8号外显子,而正常对照均无外显子缺失。结论应用直接检测SMNT基因缺失的方法可准确快速地诊断中国人SMA患者

Objective To develop a genetic diagnosis assay to detect spinal muscular atrophy(SMA) patients. Methods Using the asymmetrical polymerase chain reaction(PCR) and single strand conformation polymorphism(SSCP) assays, we developed a genetic diagnostic assay to detect the deletion of survival motor neuron(SMN) gene in the Chinese SMA patients. 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...

Objective To develop a genetic diagnosis assay to detect spinal muscular atrophy(SMA) patients. Methods Using the asymmetrical polymerase chain reaction(PCR) and single strand conformation polymorphism(SSCP) assays, we developed a genetic diagnostic assay to detect the deletion of survival motor neuron(SMN) gene in the Chinese SMA patients. 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. 3%(1/37) SMA patients lacked the exon 7 but retained exon 8. No deletion was found in the controls(0/40). Conclusions The results indicated that the assays utilized were highly sensitive and specific, and the PCR SSCP analytic methods established could be of use to detect the deletion of SMN genes for the genetic diagnosis of SMA.

目的建立进行性脊髓性肌萎缩症(SMA)的特异性基因诊断方法。方法采用不对称聚合酶链反应(PCR)方法扩增运动神经元生存(SMN)基因,并结合单链构象多态性(SSCP)分析方法分析该基因的变异和缺失。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;患者家属及正常对照SMN基因均未见缺失(0/40)。结论建立的PCRSSCP分析方法特异性及敏感性很高,可以用来对SMA患者进行基因诊断。

 
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