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smn基因
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  smn gene
    Conclusion This DNA analysis of SMN gene may be useful for gene diagnosis and prenatal gene diagnosis of SMA.
    结论 SMN基因缺失检测技术可用于SMA患儿的基因诊断和产前基因诊断
短句来源
    Prenatal diagnosis of four SMA pedigrees was performed by restriction endonucleases digestion. SMN gene fragments of three fetuses were different from those of probands, and the SMN gene fragments of one fetus was the same as those of proband.
    4个SMA家系中有 3个胎儿未发现与先证者完全相同的SMN基因片段 ,1个胎儿检测到与先证者完全相同的SMN基因片段。
短句来源
    Both hMSC and neuron-like cells expressed the mRNA of SMN gene. Compared with hMSC the latter expressed highly the mRNA of SMN gene and it was significance ( P <0.01). SMN protein was only expressed in neuron-like cells.
    诱导前的hMSC及诱导后的神经元样细胞均可见SMN基因mRNA表达,但诱导后表达增加,差异有统计学意义(P<0 .01),且诱导后神经元样细胞SMN蛋白表达为阳性。
短句来源
  “smn基因”译为未确定词的双语例句
    Results Homozygous deletion of SMN exogenote 7 was identified in 96\^8%(30/31)of patients with SMA.
    结果  96 8% (30 / 31)SMA患儿携有SMN基因第 7外显子缺失。
短句来源
    No deletion of SMN exogenote 7 was found in two cases for prenatal diagnosis.
    2例产前基因诊断的病例均无SMN基因第 7外显子缺失。
短句来源
    The expression of SMN mRNA were detected with reverse transcription-polymerase chain reaction (RT-PCR).
    用RT- PCR检测诱导前hMSC及诱导后神经元样细胞SMN基因mRNA的表达。
短句来源
    Methods 11 SMA patients were detected for the deletion and mutation in the survival motor neuron (SMN) gene by restriction endonucleases digestion of PCR products based on the difference between the two homologous copies of SMN.
    方法 基于运动神经元生存基因 (SMN基因 )的两个同源拷贝碱基上的差异 ,采用聚合酶链反应 (PCR) 酶切的方法 ,选择特异的酶切位点对 1 1例SMA患儿进行SMN基因检测。
短句来源
    Linkage analysis was performed using four (CA) n repeats.
    同时采用SMN基因内部及旁侧的C1 61、C1 71、C2 1 2、C2 72等 4对 (CA)n对 4个家系进行连锁分析。
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  smn gene
Homozygous deletions/mutations of the telomeric SMN gene, which is expressed from both copies on human chromosome 5, are associated with the disease.
      
Mutations in the telomeric copy of the SMN gene (SMN1) are responsible for almost all infantile motor neuron disease (MND).
      
In contrast, the role of the centromeric copy of the SMN gene (SMN2) in MND remains unclear.
      
No exon 7-8 deletion in the survival motor neuron (SMN) gene was found.
      
SMA is caused by mutations or deletions of the ubiquitously expressed survival motor neuron (SMN) gene.
      
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Objective To study the feasibility of gene diagnosis and prenatal gene diagnosis in patients with spinal muscular atrophy(SMA).Methods Multiple polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)was used to dectect the deletions of exogenote 7 of survival motor neuron(SMN)gene in 31 SMA patients.Prenatal diagnosis of SMA was performed in 2 families.Results Homozygous deletion of SMN exogenote 7 was identified in 96\^8%(30/31)of patients with SMA.No deletion of SMN exogenote 7 was...

Objective To study the feasibility of gene diagnosis and prenatal gene diagnosis in patients with spinal muscular atrophy(SMA).Methods Multiple polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)was used to dectect the deletions of exogenote 7 of survival motor neuron(SMN)gene in 31 SMA patients.Prenatal diagnosis of SMA was performed in 2 families.Results Homozygous deletion of SMN exogenote 7 was identified in 96\^8%(30/31)of patients with SMA.No deletion of SMN exogenote 7 was found in two cases for prenatal diagnosis.Conclusion This DNA analysis of SMN gene may be useful for gene diagnosis and prenatal gene diagnosis of SMA.

目的 探讨中国人脊髓性肌萎缩 (SMA)基因诊断和产前基因诊断的可行性。方法 应用复合聚合酶链反应 -限制性片段长度多态 (PCR -RFLP)方法对 31例SMA患儿进行神经元存活基因 (SMN)第 7外显子缺失分析 ,并对 2例有SMA阳性家族史的家系进行了产前基因诊断。结果  96 8% (30 / 31)SMA患儿携有SMN基因第 7外显子缺失。 2例产前基因诊断的病例均无SMN基因第 7外显子缺失。结论 SMN基因缺失检测技术可用于SMA患儿的基因诊断和产前基因诊断

Objective To establish an efficient and rapid method for genetic diagnosis and prenatal diagnosis of spinal muscular atrophy (SMA). Methods 11 SMA patients were detected for the deletion and mutation in the survival motor neuron (SMN) gene by restriction endonucleases digestion of PCR products based on the difference between the two homologous copies of SMN. Linkage analysis was performed using four (CA) n repeats. Results Both eon 7 and exon 8 were deleted in 10 patients. Only exon 7 deletion was found in...

Objective To establish an efficient and rapid method for genetic diagnosis and prenatal diagnosis of spinal muscular atrophy (SMA). Methods 11 SMA patients were detected for the deletion and mutation in the survival motor neuron (SMN) gene by restriction endonucleases digestion of PCR products based on the difference between the two homologous copies of SMN. Linkage analysis was performed using four (CA) n repeats. Results Both eon 7 and exon 8 were deleted in 10 patients. Only exon 7 deletion was found in one patient. Prenatal diagnosis of four SMA pedigrees was performed by restriction endonucleases digestion. SMN gene fragments of three fetuses were different from those of probands, and the SMN gene fragments of one fetus was the same as those of proband. Conclusion Restriction endonucleases digestion of PCR products is an efficient and rapid method for diagnosis of SMA.

目的 建立一种高效、快速的脊髓性肌萎缩 (SMA)的基因诊断与产前诊断的方法。方法 基于运动神经元生存基因 (SMN基因 )的两个同源拷贝碱基上的差异 ,采用聚合酶链反应 (PCR) 酶切的方法 ,选择特异的酶切位点对 1 1例SMA患儿进行SMN基因检测。同时采用SMN基因内部及旁侧的C1 61、C1 71、C2 1 2、C2 72等 4对 (CA)n对 4个家系进行连锁分析。结果  1 1例SMA患儿中 1 0例患儿缺失SMNt7、8号外显子 ,1例患儿仅缺失 7号外显子。 4个SMA家系中有 3个胎儿未发现与先证者完全相同的SMN基因片段 ,1个胎儿检测到与先证者完全相同的SMN基因片段。结论 该方法快速、简便 ,适合临床推广。

Objectives To investigate the mRNA and protein expression of SMN gene in neuron-like cells by inducing MSC to differentiate into neuron-like cells. Methods Human MSC(hMSC) were isolated and purified. Human MSC were treated with basic fibroblast growth factor (bFGF) before inducing hMSC to differentiate into neuron-like cells with dimethylsulfoxide (DMSO) and butylated hydroxyanisole (BHA). The expression of NSE, NF, and SMN protein in neuron- like cells were detected by immunohistochemistry. The expression...

Objectives To investigate the mRNA and protein expression of SMN gene in neuron-like cells by inducing MSC to differentiate into neuron-like cells. Methods Human MSC(hMSC) were isolated and purified. Human MSC were treated with basic fibroblast growth factor (bFGF) before inducing hMSC to differentiate into neuron-like cells with dimethylsulfoxide (DMSO) and butylated hydroxyanisole (BHA). The expression of NSE, NF, and SMN protein in neuron- like cells were detected by immunohistochemistry. The expression of SMN mRNA were detected with reverse transcription-polymerase chain reaction (RT-PCR). Results Human MSC progressively assumed neuronal morphological characteristics after being induced for 3 hours. Cell bodies had long processe contacting with each other. The neuronal marker of NSE and NF was positive in neuron-like cells. Both hMSC and neuron-like cells expressed the mRNA of SMN gene. Compared with hMSC the latter expressed highly the mRNA of SMN gene and it was significance ( P <0.01). SMN protein was only expressed in neuron-like cells. Conclusions Human MSC are able to differentiate into neuron-like cells with expressing the neuronal marker. Neuron-like cells can express highly the mRNA of SMN gene and express SMN protein.

目的 定向诱导人骨髓间质干细胞(hMSC)分化为神经元样细胞,并检测诱导前后细胞的运动神经元生存(SMN)基因mRNA及蛋白质的表达。方法 分离和纯化hMSC;在体外用碱性成纤维细胞生长子预诱导hMSC,再用二甲基亚砜和丁化羟基苯甲醚诱导hMSC分化为神经元样细胞;用免疫细胞化学方法鉴定诱导前后的细胞是否表达神经元特异性标志物神经元稀醇化酶(NSE)、神经丝蛋白(NF)以及SMN蛋白;用RT- PCR检测诱导前hMSC及诱导后神经元样细胞SMN基因mRNA的表达。结果 hMSC诱导3h后,大多数细胞转变为类似于神经元的形态,有长的突起,相互之间连接呈网状。NSE、NF进行鉴定,结果显示NSE、NF呈阳性。诱导前的hMSC及诱导后的神经元样细胞均可见SMN基因mRNA表达,但诱导后表达增加,差异有统计学意义(P<0 .01),且诱导后神经元样细胞SMN蛋白表达为阳性。结论 hMSC能分化为神经元样细胞,并表达神经元的特异性标志物。hMSC分化的神经元样细胞既能高表达SMN基因的mRNA,也表达SMN蛋白。

 
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