查询词典 mutations

The most frequent mutations in DMD are deletions that disrupt mRNA reading frame.

在DMD最常见的突变基因的缺失，破坏阅读框架。

Based on the basic theoryof non linear finite element, the author of the paper set up the double non linearfinite element equation based on the updated Lagrangefor mutations forthe 8-node degenerate shell element and considering the nonlinear of geometryand the nonlinear of materials.

本文根据非线性有限元的基本理论，采用基于修正的拉格朗日法描述的八节点超参数壳体单元，考虑几何非线性和材料非线性，推导建立了双重非线性有限元方程，结合混合强化本构关系，编制了非线性有限元计算程序。

We found that after making a counter charge pair of the mutations that between F1625、I1628 and I1488、F1489,the change of inactivation curve between double mutant and the sum of single mutants is different .

我们将S4/D4上F1625、I1628位置和I1488、F1489位置做相反电性配对之后，通道的不活化曲线与单突变的和相较出现明显的变化。

Dpy-17 is a gene on chromosome III; mutations in it cause animals to be dumpy.

。 dpy-17是3号染色体上的一个基因，它突变会导致动物变得粗胖。

Gene mutations were detected in 25 patients and a 18-year-old girl among 16 families. Trinucleotide repeats of CAG were 73～79. The fragments of abnormal alleles were 380～402bp, and all patients were heterozygous. The copy numbers of normal alleles were 18～40, fragments from 202～270bp. SCV reduction was much obvious compared to MCV, MCV and SCV in lower limb ?ere much more slow than that in upper's. BAEP, VEP were also delayed in latency. The anticipation in parental sex bias were much more obvioius than that in matental's. Cerebellar ataxia was most severe, the next were dysarthria and bulging eyes. Amytrophy was seen only in bed ridden patients. Cerebellar atrophy was more severe than brain stem, cord atrophy was n't observed in all MJD.

结果检出10个家系25例病人及1例症状前18岁女孩有MJD基因突变，CAG三核苷酸重复73～79次，异常等位基因片段长380～402bp，均为杂合子；正常人CAG三核苷酸重复18～40次，等位片段长200～270bp，电生理发现MJD的SCV减慢比MCV明显，而下肢的MCV、SCV又较上肢明显，BAEP、VEP均有不同程度的潜伏期延长或波的异常；MJD的父亲遗传早于母亲，进展也较块，临床以小脑性共济失调为突出症状，其次为构音障碍、突眼等，肌肉萎缩仅见于晚期病人；MRI示小脑萎缩较明显，脑干萎缩并不严重，未见明显的颈髓萎缩。

Here we identify biallelic mutations in AK2 (adenylate kinase 2) in seven individuals affected with reticular dysgenesis.

本研究中，我们在7例网状细胞发育不全的患者中，确定了腺苷酸激酶2 （AK2）的二等位基因突变。

Dystrophic epidermolysis bullosa is a group of genetic disease caused by loss-of-function mutations in the type Ⅶ collagen gene. The clinical phenotype is characterized by the blistering and scaring of the skin from trauma and there is increased complication of squamous cell carcinoma, which is the major cause of death in patients with DEB.

营养不良性大疱性表皮松解症是一种由于人体Ⅶ型胶原基因突变或缺失所引起的遗传性疾病，临床特征为创伤诱发的水疱和瘢痕，并发症以恶性鳞状细胞癌多见，是导致患者死亡的主要因素，目前仍无有效的治疗方法。

Conersely, mutations in genes that adersely affect both respiratory and embryological nodal cilia are a significant cause of heterotaxy and congenital heart disease, and screening for PCD is indicated in those patients.

相反地，对呼吸和胚胎学的交点纤毛产生不良影响的基因突变是引起心脏旋转不良和先天性心脏病的重要原因，在那些病人中表现为PCD。

The 4D microscopic analysis revealed that cnx-1 and crt-1 mutations prolong cell-corpse duration time but do not affect the timewhen cells exhibit the death phenotype. This suggests that cnx-1 and crt-1 act in engulfment rather than in execution of apoptosis.

由於在细胞尸体的吞噬机制上，先前已有两条被确认的路径，分别为ced-1， 6， 7 和 ced-2， 5， 10；为了厘清cnx-1和crt-1所作用的路径为何，我们将此两基因分别和ced-1及ced-5两基因做双重突变并分析这些双重突变品系虫体在L1幼虫时期残留的未被吞噬之细胞尸体数量。

To identify additional epidermolysis bullosa simplex mutations for studying the correlation between genotype and phenotype of EBS, and to provide basis for genetic counselling, as well as for gene diagnosis and gene therapy..

目的鉴定更多的单纯型大疱性表皮松解症突变以研究EBS基因型和表型关系，为EBS的遗传咨询及基因诊断和基因治疗奠定基础。

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。