缺失突变

所有缺失突变病例均有震颤、僵直和运动迟缓，但无异动症和PD家族史；

All of the patients who had parkin gene deletion mutation had tremor , rigidity and bradykinesia , but athetosis and family history of PD were not found .

人多种组织中线粒体DNA存在13.1kb片段缺失突变

A 13.1 kb mitochondrial DNA deletion mutation exist in various human tissues

框内缺失突变法构建变形链球菌comE基因突变株

Construction of Streptococcus mutans comE Mutant Strain Using In-frame Deletion System

天冬氨酸酶C端缺失突变酶基因的克隆和表达

Cloning and Expression of the Aspartase Mutant of Deletion from C - terminal End

线粒体DNA缺失突变在氨基糖甙类抗生素耳毒易感中的作用

The role of mtDNA deletion in the sensitivity to aminoglycoside antibiotic induced deafness

衰老小鼠线粒体DNA缺失突变的研究

Study on mitochondrial DNA deletion in aging mice

老年大鼠大脑皮质、海马和小脑的线粒体DNA缺失突变

Mitochondrial DNA Deletion in the Cerebral Cortex , Hippocampus and Cerebellum of the Aged Rats

用重组PCR技术缺失突变人单核细胞趋化蛋白-1基因

Mutagenesis of human monocyte-chemoattractant protein-1 by recombinant PCR

因此，N基因功能缺失突变频率大致为1/22000。

Therefore , the N gene has a loss of function mutation rate of approximately 1 / 22,000 .

将打靶载体电穿孔入卡介苗，筛选并鉴定卡介苗ERP基因缺失突变株。

BCG mutation with deleted ERP gene was constructed .

采用聚合酶链反应（PCR）技术和光密度扫描检测两组线粒体DNA的缺失突变情况。

Deletion mutation state of the two groups of mitochondria DNA were detected by PCR technology and photodensity scan .

等离子体诱变筛选降解高浓度对苯二酚的突变株及其降解特性研究框内缺失突变法构建变形链球菌comE基因突变株

Study on the Selection of the Mutants by Plasma Mutation and Its High Hydroquinone Degradation Character Construction of Streptococcus mutans comE Mutant Strain Using In-frame Deletion System

构建了p53缺失突变基因的重组腺病毒表达载体。

A set of recombinant adenovirus plasmids harboring these p53 mutated truncated genes were also established .

马铃薯卷叶病毒缺失突变CP基因酿酒酵母表达载体的构建

Construction of Expression vector Vector of Deletion Mutation CP Gene of Potato Leafroll Virus for Saccharomyces cerevisiae

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

Autosomal dominant congenital nuclear cataract caused by a deletion mutation in the β A1-crystallin gene

经SDS-PAGE和Western-blot免疫印迹杂交，证实表达产物为N-端缺失突变的核糖核酸酶抑制因子。

Purified HRI were examined by SDS-PAGE and Western-blot .

结论构建了卡介苗ERP基因置换型打靶载体，并构建筛选卡介苗ERP基因缺失突变株。

Conclusion Constructing the replacement vector which is used to the gene knockout in BCG . constructing the BCG mutation with deleted ERP gene .

目的研究抗衰1号对老年Balb/c小鼠肝线粒体DNA（mtDNA）缺失突变的影响。

Objective To explore the effect of anti-aging No. 1 on liver mitochondrial DNA ( mtDNA ) deletion in aged Balb / c mice .

维生素E和辅酶Q10对大鼠内耳组织线粒体DNA4834bp缺失突变的预防作用

Protective roles of vitamin E and coenzyme Q10 in the inner ear mitochondrial DNA 4834 bp deletion mutation of rats

诱变剂EMS（甲基磺酸乙酯）所致Dxl6的2核甘酸缺失突变导致果蝇胚胎后期或1龄幼虫致死。

The 2-nucleotide deletion mutation induced by EMS results in lethal to drosophila in later embryo stage or first instar-larvae .

DMD基因缺失突变及连接片段应用于基因诊断的研究

Study of DMD Gene Deletion Mutation and Using the Junction Fragment for Gene Diagnosis

结论发现了α1,4半乳糖基转移酶基因第3外显子第300或301位处G缺失突变，该突变可能是p表型的分子机理之一。

Conclusion A novel single guanosine deletion at position 300 or 301 of α( 1,4 ) galactosyltransferase gene was determined , which may be one facet of the molecular basis for p phenotype .

多重聚合酶链反应分析Dystrophin基因缺失突变

Analysis of Deletion in Dystrophin Gene by Multiplex Polymerase Chain Reaction

结论中国早发性PD患者中存在parkin基因第5、7外显子缺失突变改变。

Conclusion There are deletion mutations of parkin gene at exons 5 , 7 in Chinese case of PD .

耶尔森菌HPI毒力岛全岛缺失突变载体的构建

Construction of the Targeting Vectors Deleting High - Pathogenicity Island of Yersinia

在Dystrophin基因大内含子上定位缺失突变位点的策略

Strategy of localizing the deletion mutation point in large introns of Dystrophin gene

这些突变均发生在酪氨酸激酶域的ATP结合域附近，突变为19号外显子上的缺失突变，或18和21号外显子上的替代突变。

The mutations , including in-frame deletions at exon 19 and substitutions at exon 18 or exon 21 , cluster around ATP-binding pocket of TK domain .

原发性肝细胞癌HBx基因缺失突变及意义

Deleted mutation and significance of hepatitis B virus X gene in primary hepatocellular carcinoma

其中所有的插入突变和缺失突变均发生在D-loop区的重复序列中；

The insertions and deletions were located in the D - loop repeat sequence .

同时对发酵产物HPLC分析条件进行了摸索，并构建了基因置换和缺失突变株对其生物合成途径进行初步研究。

The HPLC analysis conditions of the fermentation product were explored at the same time . Gene replacement and in frame deletion mutants was constructed for preliminary study of its biosynthetic pathway .