移码突变
- 名frameshift mutation
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在蛋白N端58位碱基后多一G,造成移码突变。
At the N terminal , there was a frameshift mutation at 58 site .
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1例46,XY女性性反转综合征患者有移码突变和点突变并存。
Both frameshift mutation and point mutation concurred in one patient of 46 , XY female ;
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Bax和TGFβRⅡ基因在肺癌组织中的移码突变
Bax and TGF β R ⅱ frameshift mutations in lung cancer
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TGFβRⅡ的(A)10未发现移码突变。
TGF β R ⅱ ( A ) 10 frameshift mutations were not found .
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一例前列腺癌P53基因第6外显子中的移码突变
A case of prostate cancer with a frame shift mutation in exon 6 of p53 gene
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14例肿瘤DNA样品中检出p16基因外显子2的19个点突变和1个移码突变。
In 14 NSCLC tissues , 19 point mutations and a frameshift were detected .
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结果:12例瘢痕疙瘩标本中有9例p53基因外显子4,5,6,7出现点突变和移码突变,正常瘢痕标本、正常皮肤标本均未检出突变。
RESULTS : Point and frameshift mutations in the exon 4 - 7 of p53 gene were identified in 9 keloid fibroblast tissues .
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由此推测,该移码突变可能是导致hd(t)突变体推迟抽穗的原因。
This mutation might be the cause that leaded to delay heading date in hd ( t ) mutant .
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方法用PCR变性聚丙烯酰胺凝胶电泳银染法,检测50例肺癌组织Bax和TGFβRⅡ基因移码突变及微卫星改变。
Methods Frameshift mutations and microsatellite alterations were detected in 50 primary lung cancer tissues by PCR , 8 % denature polyacrylamide gel electrophoresis and silver staining .
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目的探讨Bax和TGFβRⅡ基因在肺癌组织中的移码突变及其与微卫星改变的关系。
Objective To explore frameshift mutations in the Bax and TGF β R ⅱ genes and the relationship between frameshift mutations and microsatellite alterations in lung cancer .
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该突变为移码突变,导致HPGD基因编码的15-羟基前列腺素脱氢酶发生NAD结合位点的缺失。
This mutation is an frame-shift mutation , and causes the loss of NAD binding site .
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但实验结果证明改进后的类PTT法用于检测基因阅读框移码突变确实是一种快速有效的方法。
GST fusion protein expression system combined with protein truncation test ( PTT ) protocol was used to detect gene frame shift mutation .
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所有移码突变表现为1~2个碱基的缺失或插入,大多(7/9)发生在简单核苷酸重复序列,特别是单腺苷酸重复序列(A)n(5/9)。
All of frameshift mutations were deletion or insertion of 1 2 bp and most of them ( 7 / 9 ) happened at simple nucleotide repeat sequences , particularly within ( A ) n tracts ( 5 / 9 ) .
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他们的实验证明,AD脑部存在由于GA缺失造成移码突变的β淀粉样蛋白前体和泛素-B,并推测这种移码突变是AD病理的重要起始因子。
They proved mutants of β - amyloid precursor protein and ubiquitin-B , caused by GA deletion and subsequent frameshift mutation , existed in AD brain and surmised that transcript mutation was a critical factor for initiating neuropathology in nonfamilial AD.
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Lis1基因的这种阅读框移码突变是否与肝癌相关,有待进一步验证。但实验结果证明改进后的类PTT法用于检测基因阅读框移码突变确实是一种快速有效的方法。
This improved PTT assay was proved to be a fast and effective way in detecting gene frame shift mutation .
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该插入序列造成GRA1基因移码突变。
The frameshift mutation for GRA1 gene resulted from the insertion of exogenous sequence .
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结果:从7个ADPKD家系,11例病人中检测到6种突变,其中无义突变2个,错义突变3个,移码突变1个。
Results : 6 mutations and 2 polymorphisms were identified , including 2 nonsense mutations , 3 missense mutations and 1 deletion mutation .
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结果:重质芳烃无移码突变和碱基置换效应,微核试验显示在316~1580mg/kg·bw剂量范围小鼠骨髓嗜多染红细胞微核率显著增加(与阴性对照组比较P<0.01);
Results : Ames test was negative in all dosage groups . The frequencies of bone marrow micronucleus were increased significantly at the dose of 316 ~ 1 580 mg / kg · bw .
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角蛋白14基因发生错义和移码突变导致3例严重的Dowling-Meara型单纯型大疱性表皮松解症
Three severe cases of EBS Dowling-Meara caused by missense and frameshift mutations in the keratin 14 gene
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结论多于半数的HNPCC发生APC突变,其突变多发生在编码区单核苷酸重复序列(移码突变)或CpG岛(点突变)上,提示APC基因失活在HNPCC为常见的分子事件;
Conclusion Mutational inactivations of APC gene were detected in more than half of HNPCC patients in this study , indicating that APC mutation is a common molecular event in the tumorigenesis of HNPCC .
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分析结果表明两株生产菌的purA基因发生了1个碱基缺失,导致阅读框发生移码突变;
A one base deletion is discovered in purA gene from inosine producing strain and guanosine producing strain , which will cause the open reading frame shift mutation .
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结果19例病例中有11例(13个突变点)发生APC突变,发生率为58%(11/19),其中移码突变9个,无义突变4个,移码突变占多数(69%)。
Results Eleven cases with thirteen mutations were determined . The frequency of APC mutation was 58 % ( 11 / 19 ) . The exhibiting mutations consisted of 9 frameshift mutations and 4 nonsense ones , indicating the existence of more frameshift mutations ( 69 % ) .
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451位插入碱基T,造成移码突变;
A T insertion at nucleotide 451 resulting in frameshift ;
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移码突变和异义突变都能被基因内抑制基因所抑制。
Both frameshift and missense mutations can be suppressed by intragenic suppressors .
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一个新的胆固醇酯转运蛋白基因移码突变的鉴定
Identification of a novel frame shift mutation of cholesteryl ester transfer protein gene
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突变类型包括错义突变、移码突变和多聚腺苷酸A的缺失,且基因改变者的免疫组化结果与之完全一致。
The gene alterations were completely consistent to the results of immunohistochemistry examination .
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错义突变和移码突变占全部突变的73%。
Missense mutation and frame shift mutation accounted for 73 percent of all .
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胃癌微卫星不稳定性与移码突变的关系
Microsatellite instability and frameshift mutation in gastric carcinoma
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错义和移码突变可能是其失活的主要原因。
Missense mutation and frame shift mutation were possibly the main reason of its mactivation ;
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结果从48例中成功检测到4种突变,包括1种无义突变、1种移码突变、2种错义突变。
Results Four mutations were identified , including 1 nonsense mutation , 1 deletion mutation and 2 missense mutations .