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The mutation rate was about 80% and 10 of the 22 deletion mutations were uncomplete deletion mutations, which had two amplified DNA bands less 509 bp.

在22例缺失突变病例中，有10例为不完全缺失突变即有低于外显子509 bp的扩增产物。

Result:22 out of 40(55%) primary tumors were detected the point mutations in the coden 12th of k-ras an d n-ras,h-ras.The point mutations of p53 E5 and E7 were found in 16 laryng eal tumors (16/40,40%).

结果：H-ras基因突变9例，突变率为22 。5%(9/40)；K-ras基因突变8例，突变率为20%(8/40)，N-ras基因突变5例，突变率为12.5%(5/40)。p53基因第5外显子突变7例，突变率为17.5%(7/40)；第7外显子突变9例，突变率为22 。5%(9/40)。5例发现有两种基因突变，且均表现为ras基因和p53外显子改变。

Lusters of mutations in CP region, a A-to-C mutation at necleotide 1726, a A-to-T mutation at nt 1727 and a C-to-G mutation at nt 1730, were observed in eight of eleven AsCs developing acute exacerbation, Moreover, the clustering mutations were found negative in the state of AsC and positive after acute exacerbation in a subject.

P聚集变异与AsC首次肝炎急性发作有关。 11例中，8例出现CP聚集变异。且 1例在AsC状态时无CP变异，肝炎发作时出现CP聚集变异。(3)CP聚集变异合并CP双变异的乙肝患者，表现为重型肝炎或迅速进展为肝硬化；HBVDNA高水平；HBeAg/抗HBe转换。

The mutations occurred at codons 141,175,245,248 and 258 respectively,and 4 cases of these five mutations occurred at CpG dinucleotides.

突变位点分布在p53基因第141、175、245、248和258位密码子，其中4例发生在CpG位点。

Molecular genetic testing by targeted mutation analysis for the four common FAH mutations and sequence analysis of the entire coding region are clinically available and can detect mutations in greater than 95% of affected individuals.

分子遗传学检测（对 FAH 的四个常见突变的靶突变分析以及对整个编码区的序列分析）在临床上是可行的，这些检测能检出超过95%的患者中的突变。

The majority of keratin mutations are dominant acting and mostly involve mis-sense or small insertion/deletion mutations clustering at the ends of the rod domain of the keratin molecule.

目前报道的基因突变点集中在角蛋白1A螺旋起始区和2B螺旋末端的高度保守区，基因突变方式多数为错义突变，偶有小片段插入或缺失突变。

In addition, mutations were also found in tumour types in which they had not been reported previously, indicating that rare and potentially targetable mutations can be identified with this approach.

而且，在肿瘤类型中也发现了以前没有报道过的突变，暗示可用这中方法发现罕见的、潜在的靶向突变。

Testing of relatives at risk: Molecular genetic testing (if the family-specific mutations are known) and/or evaluation by a metabolic physician soon after birth (if the family-specific mutations are not known) allows for early diagnosis and treatment of sibs at risk for GSDI.

高危血亲的检测：分子遗传血检测和／或出生后即由代谢医生进行评估可以帮助对GSD1的高危兄弟姐妹的早期诊断和治疗。

The genetic study suggested that the carbendazim-resistance in these mutants could be steadily inherited by asexual and selfed reproduction, and the resistance was controlled by the same single major gene both in laboratory mutants and field resistant isolates, the different levels of resistance or the same resistant level in different strains maybe conferred by mutations at different sites or one site with different allelic mutations. The gene compensates for the sensitivity to MDPC was allelic to that governs the carbendazim resistance, but the mutation for increasing sensitivity to MDPC in this gene could get the pathogen highly resistant to carbendazim.

抗药性遗传研究表明，在所研究的抗药突变体中，抗药性在自交和无性繁殖后代中能稳定遗传；室內抗药突变体和田间抗药菌株对多菌灵的抗药性由同一个主效基因控制，但它们发生突变的位点不同或者同一碱基位点发生了不同的突变；对MDPC的敏感性也是由单个基因控制的，该基因与控制多菌灵抗性的基因是等位基因，当该基因发生对MDPC的敏感性增加的突变时会使病菌对多菌灵产生高水平抗性。

Mutations in the BRCA1 and BRCA2 genes are known to lead to breast and oarian cancer. Howeer, the frequency of these mutations in the general population has not been well-characterized.

熟知BRCA1和BRCA2基因突变可引起乳癌和卵巢癌，不过在普通人群中突变的频率还没有很好地描述。

The split between the two groups can hardly be papered over.

这两个团体间的分歧难以掩饰。

This approach not only encourages a greater number of responses, but minimizes the likelihood of stale groupthink.

这种做法不仅鼓励了更多的反应，而且减少跟风的可能性。