1) deletion mutation
缺失突变
1.
Autosomal dominant congenital nuclear cataract caused by a deletion mutation in the βA1-crystallin gene;
晶体蛋白βA1基因缺失突变导致常染色体显性遗传核性先天性白内障
2.
Objective To search parkin gene deletion mutations at exons 1 to 6 in Chinese patients with praecox Parkinson s disease (PPD) and analyze them together with the clinical features of PPD.
方法 用 PPD患者外周血液提取 DNA,通过 PCR扩增、琼脂糖凝胶电泳鉴定 parkin基因外显子缺失突变 ,并结合临床资料分析。
3.
Objective To characterize the deletions of mitochondrial DNA (mtDNA) in Chinese patients with Kearns-Sayre syndrome (KSS) and chronic progressive external ophthalmolegia (CPEO) and identify deletion mutations of mtDNA be the etiology of these diseases.
在2例Kearns-Sayre综合征(KSS)和2例慢性进行性眼外肌麻痹(CPEO)患者的骨骼肌线粒体DNA(mtDNA)中发现存在单一的大片段缺失突变。
2) Deletion mutant
缺失突变
1.
Construction and characterization of EHEC O157∶H7 ler gene deletion mutant;
肠出血性大肠杆菌O157 ler基因缺失突变株的构建及其特性
2.
In order to determine the effect of stx gene of EHEC O157∶H7, stx deletion mutant was constructed.
针对肠出血性大肠杆菌 (EHEC) O1 5 7∶H7的 stx基因 ,通过 PCR扩增出缺失了 1 83bp的 stx基因片段 ,将其克隆到自杀性载体 p CVD4 4 2中 ,然后通过接合性转导将重组自杀性质粒 p CVD4 4 2∷Δstx从大肠杆菌 SM1 0转到 O1 5 7∶ H7中 ,利用抗性标记和 PCR方法筛选出 O1 5 7∶ H7stx基因缺失突变菌株。
3.
To investigate whether the binding of Grp75 and p53 would influence the viability of cells, we constructed the eukaryotic expression vector of Grp75 deletion mutant.
为研究Grp75和p53的结合与否是如何影响细胞活力,现构建Grp75缺失突变基因的真核表达载体。
3) deletion
[英][di'li:ʃən] [美][dɪ'liʃən]
缺失突变
1.
Aim: To study the application of the mutation-sensitive molecular switch in the two deletion hotspots of EGFR gene associated with lung cancer.
目的:研究高保真DNA聚合酶介导的基因突变敏感性分子开关在肺癌EGFR基因缺失突变检测中的应用。
4) deletive mutation
缺失突变
1.
Objectives: To study the association between the etiology and the deletive mutations of exons 1 to 7 on Parkin gene patients with praecox Parkinson s disease (PPD) in GuangXi and analyze the clinical features of PPD.
目的:研究Parkin基因1~7号外显子缺失突变与广西地区早发性帕金森病(PPD)的关系;分析PPD相关的临床特点。
6) estended deletion
突变缺失
补充资料:21号染色体部分缺失综合征
21号染色体部分缺失综合征
病名。即21q-综合征。
说明:补充资料仅用于学习参考,请勿用于其它任何用途。
参考词条