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- gene deleted mutation 基因缺陷变异
- LacZ gene was inserted into TK gene deleted transfer vector, the TK /LacZ+ /GTPV-TY mutant was screened. 将LacZ基因表达盒插入TK基因缺失转移载体,筛选TK基因缺失的GTPV-TY突变株。
- A deletion mutation with frameshift of neurofibromatosis type 2 gene was detected by DNA sequencing. 以DNA序列分析出,在第二型纤维细胞瘤基因上发生染色体缺失造成移码突变。
- Methods 38 BPH and 18 normal prostatic tissue were detected for MTS1 gene deletion and mutation by means of PCR-SSCP. 方法用PCR-银染SSCP技术检测18例正常前列腺和38例BPH中抑癌基因MTS1各外显子的纯合性缺失和突变。
- He was also informed that, due to thalassemia gene deletion or mutation is caused by, but not its genetic transmission. 同时他还得知,地中海贫血由于是基因缺失或突变引起的,因此它遗传但不传染。
- AML 1 gene abnormalities, including both chromosome translocation and mutation (point mutation, insertion, deletion mutation, et al), which lead to the lost of transcript activation, are general in acute leukemia. 在急性白血病中常见AML1基因结构异常,包括平衡易位及突变(如点突变、插入或缺失突变等),导致AML1的转录活性丧失,提示此基因功能缺失在急性白血病的发生及发展中起着重要作用。
- A single copy fragment containing cis acting "CACA" box has been identified, which might be the upstream of a new tumor suppressor gene deleted in tumors of the stomach and small intestine. 在胃、小肠肿瘤组织发生缺失突变的片段可能为某一抑癌基因的前半部分 ,即含有启动子成分的调控元件部分CACA盒
- Results: three patients with DAZ gene deleted were found, who are all idiopathic azoospermia with normal karyotype. It accounted for 14.3%(3/21) of idiopathic azoo- spermia, which was in accordance with the public reports (5~16%). 结果:PCR结果共检测出3例DAZ基因缺失,均为核型正常的特发性无精患者,约占特发性无精患者的14.;3%25(3/21),符合文献报道的5~16%25。
- Objective:To understand large scale deletion mutation in mitochondrial DNA(mtDNA) and its significance. 目的:了解线粒体DNA大片段缺失突变及其意义。
- Deletion mutations in parkin gene can be detected both in patients with EOP and in patients with LOP. 无论是EOP还是LOP患者中均可检测到parkin基因突变。
- Recent researches indicate that the deletion mutation of MEF2A can attenuate the transcription activation,result in the dysplasia of blood vessel endothelium and stimulate the pathogenesis of coronary artery diseases. 近期研究表明,冠心病易感基因MEF2A的突变会影响其转录产物MEF2A蛋白的空间构象,减弱其在肌细胞信号介导的转录激活效能,进而导致血管内皮发育不良、单核细胞浸润,启动动脉粥样硬化斑块的形成。
- Objective To analyse the locations and types of gene deletions in Duchenne/Becker muscular dystrophy(DMD/BMD). 目的分析迪谢内/贝克肌营养不良症(DMD/BDM)基因缺失类型及其分布规律。
- Objective To detect dystrophin gene deletion of Duchenne muscular dystrophy (DMD) and make DMD gene diagnosis. 目的探讨Duchenne型肌营养不良症(DMD)患者基因缺失的突变特点并进行基因诊断。
- Results: all of 12 CML cases were bcr/abl gene positive by FISH and 2 cases were associated with ASS gene deletion. 结果:12例CML均检出bcr/abl基因的存在,其中2例伴ASS基因缺失。
- As compared with the FBA, the performance of EFM analysis was superior to FBA in prediction of gene deletion phenotype. 通过EFM预测了基因突变后的酵母细胞生长现象,模拟预测结果和实验结果很好吻合;
- Conclusion MTS1 gene deletions probably contribute to the tumorigenesis and evolution of primary bladder cancer. 结论MTS1基因缺失与原发性膀胱癌的发生发展有关。
- GSTM1 gene deletion might bea risk fac tor for endometriosis in women of Han nationality who are native residents in Gu angdong Province. GSTM1基因缺失可能是广东汉族妇女内异症发病的危险性因素之一。
- Construction of Recombinant PRV PK Gene Deleted Transfer Vector 伪狂犬病毒PK基因缺失转移载体的构建
- The CDKN2 gene deletions were also detected in meningiomas, neurinomas, pituitary adenomas and metastatic carcinomas to a different degree. 脑膜瘤、神经鞘瘤、垂体腺瘤及转移瘤亦存在不同程度CDKN2基因的丢失。
- Conclusion Detection of SMN1 gene deletions with the PCR-enzyme digestion method can be served to diagnose SMA patients accurately and quickly. 结论应用PCR-酶切法检测SMN1基因缺失从而进行SMA患者的基因诊断,具有准确、简便和快速的优点。