突变的

Inherited mutations in rhodopsin, the light sensing protein of rods cells, are the single most common cause of one form of RP and the majority of these mutations cause protein misfolding.

遗传突变的视紫红质，光传感蛋白的燃料棒细胞，单是最常见的一种形式的反相和大多数这些突变导致蛋白质错误折叠。

Methods Targeting the most common mutation types at codon 526 and codon 531 of Rifampiein Resistance Determining Region of rpoB gene from Mycobacterium tuberculosis ,labeled probes （526CAC, 526TAC, 531TCG and 531TTG） were designed to detect 38 Rifampin-resistant clinical isolates with known RRDR sequence, 24 Rifampin-sensitive clinical isolates with wild type sequence of RRDR and 5 nontuberculous mycobacteria isolates, then a method using real-time PCR was established.

方法针对结核分枝杆菌rpoB基因利福平耐药决定区（Rifampicin Resistance Determining Region，RRDR）526密码子和531密码子常见的突变形式设计探针（526CAC，526TAC，531TCG和531TTG），应用已知rpoB基因RRDR区序列的38株利福平耐药临床分离株和24株利福平敏感临床分离株以及5株非结核分枝杆菌菌株建立荧光定量PCR检测基因突变的方法。

In addition, the genotype-phenotype and race relationship study is growing more and more noticeable because HCM is not only a genetically and phenotypically heterogeneous disease but also a disease has racial difference. However, most of the knowledge is derived from studies in Caucasian patients, little is known in Chinese patients with HCM.

国外学者对上述基因突变的分子遗传学和临床研究显示这些突变与肥厚型心肌病的临床表现密切相关，因而研究其基因型及临床表型关系具有重要的诊断意义。

Each child of an individual with an ELANE mutation has a 50% chance of inheriting the mutation .

有 ELANE 突变的患者的每个孩子有50%的几率遗传得到该突变。

Apositive correlation between the expression of TSG101 protein and MDM2 proteinpresents in the lung carcinoma when P53 gene doesnt mutate. But when P53 genemutates, the positive correlation absents. 3. Co-detecting the expression of TSG101protein, MDM2 protein and P53 protein in lung carcinoma helps to judging the degreeof malignancy.

在P53没有突变的情况下，TSG101与MDM2的表达呈正相关关系；当P53突变时，这种关系消失。3、联合检测TSG101、MDM2和P53有助于判断肺癌的恶性程度。

Chromosome mutations can occur naturally but their frequency is increased by the effect of x-rays and chemical mutagens.

染色体的突变是自然发生的，但通过 X 射线或化学诱变剂可以增加突变的频率。

The group uses Big Blue transgenic animals and cell lines to study the mutagenic effects of mutagens, the relation between DNA damage and mutation, the effects of aging and diet on mutation.

该集团使用大蓝鼠转基因动物和细胞系来研究诱变剂的诱变效应，脱氧核糖核酸损伤和突变的关系，生物突变中年龄与饮食的影响。

Whippets with a single copy of this mutation are generally very fast; those with two copies have disproportionately large musculature and are known as "bully whippets".

有一组因子突变的惠比特通常奔跑非常迅速。而那些两组因子突变的惠比特就会发育出不成比例的硕大肌肉组织，而被成为&公牛惠比特&。

Methods A CMT2L proband with 423 mutation in HSP22 gene had been studied and reported by the present authors.

方法应用聚合酶链反应和DNA直接测序方法，对1个发现HSP22基因423突变的CMT2L家系外的114个CMT家系先证者进行了HSP22基因的突变分析。

The mutation detection rate in individuals known to have mutations in MUT through complementation studies is not yet known.

利用互补分析获得的已知带有MUT基因突变的个体的突变检测率未知。

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。