Novel Deleterious(小说有害)研究综述
Novel Deleterious 小说有害 - Finally, we identified a novel deleterious splice-acceptor site mutation of chr5:5186164 G>T (chromosome 5p15) encoding the gene, ADAMTS16, in the invasive component. [1] Viruses, bacteria, and the selfing nematode Caenorhabditis elegans have been shown to be capable of rapid recovery from the fixation of novel deleterious mutation, however the potential for fitness recovery from fixation of segregating variation under inbreeding in outcrossing organisms is poorly understood. [2] Two novel deleterious mutations and one novel missense mutation were identified from this study, with the prevalence of about 3. [3] Among the rest of 174 samples, five were found carrying novel deleterious LGRs in BRCA1 which are exon5-7dup (1 patient), exon13-14dup (2 patients), and exon1-22del (2 patients). [4] Novel deleterious variants in mesotheliomas included MSH3 (1% [1/84]; 95% CI: 0-7%), BARD1 (1% [1/84]; 95% CI: 0-7%), and RECQL4 (2% [2/84]; 95% CI: 0-9%). [5] Therefore, the sequence of CYP21A2 gene must be analyzed carefully in case rare or novel deleterious variants exist. [6] Results: Both brothers were found to have novel deleterious mutation in MYO7A (c. [7]最后，我们在侵入性成分中鉴定了编码基因 ADAMTS16 的 chr5:5186164G>T（染色体 5p15）的新型有害剪接受体位点突变。 [1] 病毒、细菌和自交线虫秀丽隐杆线虫已被证明能够从新的有害突变的固定中快速恢复，但是对于异交生物中近交下分离变异固定的适应性恢复的潜力却知之甚少。 [2] 从这项研究中鉴定出两种新的有害突变和一种新的错义突变，患病率约为 3。 [3] 在其余 174 个样本中，发现 5 个在 BRCA1 中携带新的有害 LGR，它们是 exon5-7dup（1 名患者）、exon13-14dup（2 名患者）和 exon1-22del（2 名患者）。 [4] 间皮瘤中的新型有害变异包括 MSH3 (1% [1/84]; 95% CI: 0-7%)、BARD1 (1% [1/84]; 95% CI: 0-7%) 和 RECQL4 (2 % [2/84]；95% CI：0-9%）。 [5] 因此，必须仔细分析 CYP21A2 基因的序列，以防出现罕见或新的有害变异。 [6] 结果：发现两兄弟在 MYO7A (c. [7]
novel deleterious mutation 新的有害突变
Viruses, bacteria, and the selfing nematode Caenorhabditis elegans have been shown to be capable of rapid recovery from the fixation of novel deleterious mutation, however the potential for fitness recovery from fixation of segregating variation under inbreeding in outcrossing organisms is poorly understood. [1] Two novel deleterious mutations and one novel missense mutation were identified from this study, with the prevalence of about 3. [2] Results: Both brothers were found to have novel deleterious mutation in MYO7A (c. [3]病毒、细菌和自交线虫秀丽隐杆线虫已被证明能够从新的有害突变的固定中快速恢复，但是对于异交生物中近交下分离变异固定的适应性恢复的潜力却知之甚少。 [1] 从这项研究中鉴定出两种新的有害突变和一种新的错义突变，患病率约为 3。 [2] 结果：发现两兄弟在 MYO7A (c. [3]
novel deleterious variant 新的有害变体
Novel deleterious variants in mesotheliomas included MSH3 (1% [1/84]; 95% CI: 0-7%), BARD1 (1% [1/84]; 95% CI: 0-7%), and RECQL4 (2% [2/84]; 95% CI: 0-9%). [1] Therefore, the sequence of CYP21A2 gene must be analyzed carefully in case rare or novel deleterious variants exist. [2]间皮瘤中的新型有害变异包括 MSH3 (1% [1/84]; 95% CI: 0-7%)、BARD1 (1% [1/84]; 95% CI: 0-7%) 和 RECQL4 (2 % [2/84]；95% CI：0-9%）。 [1] 因此，必须仔细分析 CYP21A2 基因的序列，以防出现罕见或新的有害变异。 [2]