突变的

It includes as follows:(1) That the right acceptance probability to decide the initial value temperature should be 0.6 are presented by experiment. For the first time, crossover and mutation operator are used in populations to calculate the initial value of temperature. At least the initial value of temperature is 〓.(2) Replacing random change operator with crossover and mutation operators.

2使用遗传算法中交配与突变代替模拟退火算法中随机扰动操作，对两种操作方法进行定性分析，得到突变和交配操作与随机扰动方法在本质上的一致性；同时首次提出在不同温度条件下，使用不同的比例因子，控制参与交配与突变的基因位数，实现了二次使用模拟退火算法的过程。

Gene mutations in p53 gene exon 11 were identified in all samples, which had the same type and site.

p53基因外显子11在所有的被检测样本中均发现突变，而且突变的位点及突变的类型均相同。

At the same time, intact shuttle-plasmid pZ189 was also introduced into the host cell which was used for detection of nontargeted mutation frequency. After replicating in cells, progeny plasmid DNA was isolated and transformed into E coli. MBM7070.In the presence of ampicillin, X-gal and IPTG, pZ189-transformed E. Coli MBM7070 forms blue colony if the plasmid contains an active SupF suppresser tRNA gene, and white or light blue colony if the SupF tRNA gene is inactive.

但是由于检测非定标性突变需同时引入穿梭质粒pZ189在细胞中复制，并回收质粒DNA，通过转化宿主菌E.coliMBM7070，在含x-gal和IPTG的氨苄指示板上培养，如果用于检测突变的靶基因SupF tRNA基因发生突变，则菌落色泽为白色或淡蓝色，而正常者为兰色。

In order to further investigate the pathologic role of HOXD13 p.Q317R mutation during embryonic development and elucidate the molecular mechanism of typeⅤsyndactyly,we constructed mouse Hoxd13 Q50R replacement gene targeting vector,which will contribute to future generation of mouse model carrying the corresponding mutation.

为进一步研究HOXD13 p.Q317R突变体的功能及其导致V型并指的致病机制，我们成功构建了针对此点突变的小鼠Hoxd13 Q50R置换型基因打靶载体，为建立此点突变的小鼠模型奠定了基础。

In the current study, we have detected the mtDNA mutation in lung cancer, investigated the correlation between the mtDNA mutations and carcinogenesis, and explored the possibility of mtDNA mutations as a biomarker. We also analyzed the reasons for the homoplasmic mutations of mtDNA.

为了探讨mtDNA突变在肺癌发生中的意义、mtDNA突变在肺癌早期诊断中作为分子标记的可能性以及mtDNA多态性与肺癌易感性的关系，我们检测了肺癌mtDNA突变，分析了肿瘤中mtDNA同质性突变的形成原因。

To verify pathopoiesis of PRKAG2 with a novel missense mutation G100S responsible for Chinese PRKAG2 cardiac syndrome and promote pathogenic investigation of the PRKAG2 gene,we study the functional consequences of the mutation in the level of the cell and molecule by overexpressing mutants of PRKAG2 in CCL13 cells.

为了验证PRKAG2 G100S新突变在中国人PRKAG2心脏综合征家系中的致病作用，深入认识PRKAG2 G100S错义突变引起的功能变化，推动PRKAG2基因的致病机制研究，我们通过在CCL13细胞中过表达突变基因，从细胞、分子水平研究了PRKAG2 G100S突变的生物学功能。

In this thesis, we find that dlg is indispensible in the establishment of anterior-posterior and dorsal-ventral polarity of drosophila oocyte. Removal of Dlg function from the posterior follicle cells using the FLP/FRT system leads to disruption of oocyte skeleton reconstruction that is elicited by the failure of those posterior cells to differentiate normally in mid-oogenesis. We demonstrate that abnormity of Notch, JAK-STAT and EGFR signal pathway in dlg mutants contributes to this aberrant differentiation. dlg null mutant also blocks the normal differentiation of two groups of anterior follicle cell-stretched cell and centripetal cell, but not border cell, with a lower penetrance. However unlike the result in posterior follicle cells, Notch and JAK-STAT signaling are both undisrupted in all mutant anterior follicle cells, implying other fate determinants may be involved.

我们的研究发现，后端滤泡细胞中的Dlg在果蝇卵子发生中期卵母细胞前后轴和背腹轴建立过程中也是必须的，PFC中dlg完全缺失型突变引起PFC的分化异常，导致卵子发生中期卵母细胞骨架重组异常，Stau、Grk等极性决定蛋白定位错误。dlg突变阻碍了Notch、JAK-STAT、EGFR等调节PFC分化的信号通路的激活。dlg突变的PFC也没有获得前端滤泡细胞命运。dlg突变不影响前端滤泡细胞群中边界细胞的分化，但是在一定程度上影响伸展细胞和向心细胞的分化，并且这种影响不依赖于前端滤泡细胞Notch或JAK-STAT信号激活的异常。

In order to study the effects of 3 protein-4.2 point mutations associated with HS, we have cloned four recombinant fusion proteins: GST-P4.2 (31-200) D175Y, GST-P4.2 (31-200) D175Y, GST-P4.2 (100-260) D175Y, GST-P4.2 (31-200) A142T with pointmutation, to do prokaryotic expression, and tested their interactions with ankyrin by Far-Western blot and Pull-down assay, but there were no evidences to show these mutated proteins can bind to ankyrin except GST-P4.2 (31-200) A142T.

于是我们采用了点突变的方法，克隆表达了4种重组的突变蛋白GST-P4.2(31-200)D175Y、GST-P4.2(31-200)D175Y、GST-P4.2(100-260)D175Y，GST-P4.2(31-200)A142T，发现第175位氨基酸残基的突变使得相应的重组蛋白均不能与ankyrin直接相互作用，而第142位氨基酸残基的突变对P4.2与ankyrin之间的相互作用没有影响，这说明第175位氨基酸对于P4.2与ankyrin的结合是非常重要的，很可能是一个关键位点。

Neural stem cells have a strong self-renew mechanism and it can transform after a little break. Neural stem cells have a long term survival, which mean that it has more probability of wrong copy than mature cells. These cells are formed glioma stem cells in the end. The genes who adjust neural stem cells can express in glioma stem cells, which hold out glioma stem cells from neural stem cells. There is another presume that glioma stem cells come from differentiated cells. Through the gene break of these cells, they can obtain characteristics of stem cells, then form glioma stem cells.

神经干细胞具有很强的自我更新机制，获得较少突变即有可能恶性转化，而且干细胞存活时间较长，这意味着干细胞比成熟细胞发生细胞复制的错误几率更大，因外界环境的刺激而发生突变的机会更多，最终形成脑胶质瘤干细胞，同时调节神经干细胞增殖和自我更新的基因在脑胶质瘤的脑胶质瘤干细胞中也表达，这也是支持神经干细胞是脑胶质瘤干细胞来源的；也有推测认为它可能起源于已分化的细胞，由这些细胞突变发生去分化得来，并通过基因突变而获得了干细胞自我更新的特性，从而形成脑胶质瘤干细胞。

Patients were divided into two groups, those with gene Arg778Leu mutation in one group and the others in another group. Try to analyse and explore the correlation between gene mutation and clinical manifestation in WD patients.

将检测到该位点有突变和该位点无突变的患者分别归为一组，并与临床资料进行相关分析，探讨该突变点与临床表现型的内在联系。

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。