2) 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。
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) 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。
5) 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。
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