虽然大多数致病突变在人类中发现的概率为千分之一到百万分之一,但基础突变发生的几率可能高得多。
While most disease-causing mutated are found in humans at a rate of one in a few thousand to one in a few million people, founder mutation can occur at much higher rates.
这些装置的耐受性似乎很小,因为几乎基础基因的任何突变都会导致蛋白畸形,并因此引发疾病。
The tolerances of these machines seem to be very fine because almost any mutation in the underlying genes leads to a misshapen protein and, consequently, to disease.
目的:分析按照甲状腺结节BRAFV600E突变状态为基础的诊治指南手术的结果。
Objective: We analyzed the surgical result according to a management guideline based on the BRAFV600E mutation status of thyroid nodules.
事物“安全流变-突变”规律的研究为揭示事物的安全本质规律奠定了基础。
The study of the law of Safety Rheology and Mutation establish a foundation for revealing the essence of the events safety .
的分子基础的增加,突变率仍在辩论中,写道:辛克莱。
The molecular basis of this increase in mutation rate is still under debate, wrote Sinclair.
结论角蛋白17基因R94C的突变,是导致中国人多发性脂囊瘤的遗传学基础之一。
Conclusion The R94C mutation in keratin 17 gene is one of the genetic bases of SCM in Chinese.
本研究为进一步开展导致该白化突变体的功能基因分析奠定了基础。
The present study laid a foundation of further researches on the function gene resulting in this albino mutation.
结论野生型和突变型PRPF31基因真核表达载体的构建,为研究PRPF31基因突变引起视网膜色素变性的机制奠定了基础。
Conclusion Construction of the eukaryotic expression vectors of wild type and mutant PRPF31 genes is basic work for research on the mechanisms of retinitis pigmentosa caused by PRPF31 mutation.
在研究裂缝失稳机理及特征的基础上,应用突变理论,建立了裂缝的突变模型,并得出裂缝稳定性的判据。
Based on analyzing the mechanism of destabilization of crack in dam, the mutation model is established by use of catastrophe theory, and the criterion of the stability of crack is given.
在薄板理论的基础上,建立了立井井筒底板突水的突变模型。
On the basis of the thin plate theory, the cusp catastrophe model of water outburst at vertical shaft floor could be set.
本文的研究结果为该新获得的突变体的进一步利用奠定了理论基础。
Results obtained in this research laid a theoretic foundation for application of the new dwarf mutant in rice breeding.
在此基础上,应用能量原理及突变理论推导矿柱失稳的临界载荷及临界应力,提出矿柱发生失稳的屈曲模型。
The critical load and critical stress were deduced by means of energy principle and catastrophe theory based on these conditions, and the buckling model of pillar was presented.
以突变理论、静态分叉理论、奇异性理论等为基础,对复杂系统的脆性问题进行了深入的研究。
Based on the catastrophe theory, static bifurcation theory and singularity theory, to research the brittleness problems of complex system.
计算表明,基础弹性突变对梁的振动有较大影响,其影响随着移动荷载速度的增加而增加。
The computations show that the foundation elasticity stiffness abrupt change has greater influences on beam vibration. This influences increase with increase of the velocity of the moving loads.
在农业病虫害突变规律的研究基础上,建立了定性与定量的尖角突变模型,确定了各病虫的突变区域。
According to the catastrophe rule of pest in agriculture the qualitative and quantitative catastrophe model was set up and the sudden change region was determined.
在详细分析相电流差突变量选相基本原理的基础上,对传统相电流差突变量选相元件三相短路故障判据进行了改进。
Based on the detailed analysis of basic principle, the traditional three-phase short-circuit criterion of phase selection element based on sudden-change of phase current differential is improved.
为提高精度,在渐变应力比突变应力更符合实际的基础上提出应力在各时段内线性变化的假定,在此假定下推导了应力计算的一般公式,用于实测应变资料的分析计算。
Based on an analysis of the sources of errors, a linear variation of the stress at each stage was assumed, and a general formula for stress calculation was deduced.
大麦突变体的获得和深入研究是开展大麦基因克隆和功能研究的关键,是利用生物技术手段改良大麦农艺性状的基础。
Acquiring barley mutants and research on them was key for gene clone and function analysis, and was the base of improvement for agricultural character using biotechnology.
G3635A突变位点是3个家系的分子遗传致病基础。
It showed that G3635A mutation was the pathogenic molecular basis for those patients.
在此基础上,运用突变理论,建立一个成绩增长的突变模型。
On this basis, by using the sudden change theory, the sudden change model of performance improvement is set up.
针对不良数据的检测和辨识,在简要分析传统量测量残差检测和突变检测方法优缺点的基础上,又介绍了一些新的理论。
After analysis of traditional methods, including residual and sudden change detection, some new theories are introduced for bad data detection and identification.
这是FDA批准的首个能够检测非小细胞肺癌患者表皮生长因子受体(EGFR)基因突变的、以血液为基础的基因检测试剂盒。
This is the first FDA-approved, blood-based genetic test that can detect epidermal growth factor receptor (EGFR) gene mutations in non-small cell lung cancer patients.
利用伽玛射线对粳稻品种中花11进行辐照,以诱导广泛的形态突变体,为水稻功能基因组研究提供基础材料。
The japonica rice (Oryza sativa L.) variety Zhonghua 11, developed by anther culture technology, was irradiated by gamma rays to induce extensive mutation for functional genomics research use.
特定离子通道的基因突变是产生遗传性长qt综合征的基础。
Specific ion channel mutations underline the congenital long QT syndrome (LQTS).
结论体外定点突变系统可以对基因进行精细的修饰,为建立更精确地模拟人类疾病的动物模型打下基础。
Conclusion the site specific point mutation system can modify human gene in vitro more accurately. It is useful in the setting up of animal models.
建立水稻突变体库是功能基因组学研究的有效手段,而高效的水稻转化体系是建立突变体库的重要基础。
In this study, a high efficient Agrobacterium-mediated transformation system has been established and a large-scale rice enhancer trapping population has been generated.
以达尔文进化论为基础,提出一种新的基于实数编码的反债式突变多算子遗传算法。
A new real coding evolution algorithm is presented, which combines feedback mutation and multi-operator.
因而推测,剑尾鱼的侏儒突变是由于脊椎的发育缺陷所致,椎体异常是其体型变化的结构基础。
Therefore, the dwarf mutation in X. helleri is caused by the developmental defect in spinal column, and the vertebral malformation underlies the body type alteration anatomically.
因而推测,剑尾鱼的侏儒突变是由于脊椎的发育缺陷所致,椎体异常是其体型变化的结构基础。
Therefore, the dwarf mutation in X. helleri is caused by the developmental defect in spinal column, and the vertebral malformation underlies the body type alteration anatomically.
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