查询词典 mutation

①Location of WD gene in Ch inese: Using pairwise linkage analysis and multipoint linkage analysis method, w e constructed a genetic map of DNA markers within D13q14.2-3 which refined the location of WD gene by restriction fragment length polymorphism and microsatellite polymorphism analysis;②Screen for mutations of WD gene in Chinese people: we detected the structure of 21 exons of WD ge ne in 45 patients from 39 pedigrees by PCR-SSCP(Single strand conformation poly morphism) and PCR-DNA sequencing technology, found a new mutation in exon 5 and nuclcotide sequence analysis showed it is a T insertion. We also conformed the Arg778Leu in exon 8, the highest frequence mutation point in Chinese people, wit h mutation rate 22.8%in total;③Carrier detection and presymptomatic diagnosi s of WD: Based on DNA recombination technology, we peformed successfully the gen e diagnosis in all individuals of 79 families with WD and built up a helpful spe cific enzyme cut method (PCR-Msp1) to detect the carrier and presympomatic patients in Chinese pe ople with WD.

①WD的基因定位研究：通过RFLP及微卫星多态性分析，应用两位点及多位点连锁软件，建立了中国人WD基因在D13q14.2-3区域的精细遗传连锁图谱，从而首次对中国人WD基因进行了精确定位；②WD基因突变研究：应用PCR-SSCP及DNA测序技术，对39个家系45名WD患者进行该致病基因的21个外显子突变筛选，发现WD基因5号外显子存在新的T插入突变，并证实中国人WD基因的突变热点为8号外显子，突变形式为Arg778Leu，其频率为22.8%；③WD的症状前诊断和杂合子检出：应用DNA重组技术对79个家系进行基因诊断，成功地进行了WD的症状前诊断和杂合子检出，并建立了WD的基因筛选的PCR-Msp 1酶切方法。

Results as bellows: AtSIRT1 was located in Mitochondrial as hSIRT4 of human, and maybe take part in respiration and electron transformation chain, AtSIRT2 was located in nucleolus as hSIRT6 of human, maybe play important role in extend lifespan;mutation in AtSIRT1 leaded to cotyledon of plant turn to yellow and caused short life span. Mutation in AtSIRT2 could make the color of leaf turn to purple and accumulate a lot of anthocyanin;Sirtinol, a inhibitor of SIRT which did not cause the same model of the mutation of AtSIRT1 and AtSIRT2 indicated that the mechanism of Sirtinol was different from other organism;the structure of AtSIRT1 and AtSIRT2 were similar to other known Sir2, which indicated that they maybe have the same function;AtSIRT2 was overexpressed and its activity was detected.

结果表明，1，拟南芥AtSIRT1与人的同源蛋白hSIRT4相同，定位于线粒体，可能参与呼吸作用和电子传递，SIRT2与人的同源蛋白hSIRT6相同，定位于细胞核，可能同它的功能类似，在延缓衰老及调节细胞寿命方面起作用。2，AtSIRT1突变，可引起幼苗和植株的子叶变黄和早衰；AtSIRT2突变，可引起叶片发紫，沉积大量花青素。3，SIRT蛋白的抑制剂Sirtinol不能表型模写AtSIRT1和AtSIRT2突变体，说明Sirtinol在拟南芥中的作用机制不同于其他生物。4，AtSIRT1和AtSIRT2蛋白质结构预测表明与已知的Sir2蛋白相似，揭示其功能的相似性。5，在大肠杆菌中过量表达了其中一个基因(AtSIRT2)，可体外检测其酶学活性，进一步证明其功能。

In Small Tail Han sheep, Chinese Merino sheep, Corriedale sheep and South African Mutton Merino sheep, frequency of AA genotype was 0.58, 0.98, 0.96, 1.00, frequency of AB genotype was 0.40, 0.02, 0.04, 0.00, frequency of BB genotype was 0.02, 0.00, 0.00, 0.00, respectively. The ewes with mutation homozygous genotype BB or mutation heterozygous genotype AB had 1.45 at 305 bp of exon 3 of BMP4 gene in the BB genotype in comparison to the AA genotype, and this mutation resulted in an amino acid change: alanine—?aspartic acid. The ewes with genotype BB had 0.61 P

结果表明：小尾寒羊、中国美利奴绵羊、考力代绵羊在INHA基因5'调控区发生了1处碱基突变(316C→T)，南非肉用美利奴绵羊没有发生这种突变；小尾寒羊、中国美利奴绵羊、考力代绵羊、南非肉用美利奴绵羊AA基因型频率分别为0.58、0.98、0.96、1.00，AB基因型频率分别为0.40、0.02、0.04、0.00，BB基因型频率分别为0.02、0.00、0.00、0.00；突变纯合型和突变杂合型小尾寒羊平均产羔数分别比野生型多1.45只P

In this paper, a mathematical description of mutation operator and a concept of mutation function for the study of evolutionary programming and evolution strategies are proposed, and several methods and examples of constructing mutation operator with uniformly distributed random variables are presented.

进化算法是研究全局优化算法中最重要的随机算法之一，本文给出了进化规划和进化策略的变异算子的数学描述，并提出变异函数的概念，在此基础上，给出了用均匀分布的随机数构造变异算子的几种方法和若干例子。

Until now, about 600 types of FBN1 gene mutation have been reported, in which missense mutation and splice site mutation are mainly associated with ectopia lends.

至今已经发现约600种类型的FBN1基因的突变形式，其中与晶状体脱位相关的以错义突变和剪接位点突变为主。

Mutation rate at exon of GH in five bovine species was very low with the percentage of 3.48%. The majority of nucleotide substitution was nonsense mutation and only one missense mutation was observed. Molecule tree based on haplotypes of bGH at exon 5 showed that differentiation was apparent relatively between Bubalus bubalis and Bos taurus, Bos indicus, Bos grunniens, Bos frontalis. There was no apparent differentiation among other four bovine species and they shared mutual ancestral sequence.

序列分析表明，5个牛种GH基因外显子5的遗传变异水平较低，平均核苷酸变异率约为3.48%，而且绝大多数位点的核苷酸替换是同义突变，仅发现1个错义突变位点；从GH基因外显子5序列单倍型构建的分子进化树来看，水牛与普通牛、瘤牛、牦牛及大额牛的分化相对比较明显，其他4个牛种之间并无明显分化，还享有共同的祖先序列。

Results Among 54 WD patients, 36 were found to carry Arg778leu mutation, among whom 15 were homozygote, 21 were heterozygote, the frequency of this mutation was 47.2%. Of 46 patients with hepatic damage, 36 were found to have the mutation of Arg778Leu, among whom 34 were found to have Leu770Leu polymorphism simultaneously.

结果 54例Wilson病患者中36例存在Arg778Leu基因突变，15例为纯合型，21例为杂合型，Arg778Leu等位基因突变频率为47.2 ％；46例伴肝损害的患者中33例存在ATP7B基因外显子8的Arg778Leu突变；36例Arg778Leu突变者中34例同时伴有Leu770Leu多态性。

1,After transfected the mutated mtDNA of colorectal carcinoma,the mtDNA D-loop region of the transfected cells displays new mutation points.2,The external source pieces of the mutated mtDNA can integrate to nuclear genome after transfection.3,There's no differences in apoptosis between combinations after transfected the mutation of mtDNA in NIH3T3 and LST cells.4,The mutated mtDNA may affect the action mechanism of occurrence and development in colorectal carcinoma through affecting its mtDNA mutation or integrating exogenetic mtDNA to its nuclear which may cause the abnormal expression of oncogene or anti-oncogene.

（1）转染突变的大肠癌细胞mtDNA后转染细胞的mtDNA均可发生多处的突变位点。（2）通过转染后突变的外源性的mtDNA可以整合到核基因组内。（3）突变的mtDNA转染LST细胞及NIH3T3细胞后，不影响转染细胞的凋亡改变。（4）mtDNA的突变可能通过影响体细胞mtDNA的突变和通过外源性mtDNA在核内的整合从而影响癌基因或抑癌基因的表达异常，从而参与肿瘤的发生发展。

1,After transfected the mutated mtDNA of colorectal carcinoma,the mtDNA D-loop region of the transfected cells displays new mutation points.2,The external source pieces of the mutated mtDNA can integrate to nuclear genome after transfection.3,There's no differences in apoptosis between combinations after transfected the mutation of mtDNA in NIH3T3 and LST cells.4,The mutated mtDNA may affect the action mechanism of occurrence and development in colorectal carcinoma through affecting its mtDNA mutation or integrating exogenetic mtDNA to its nuclear which may cause the abnormal expression of oncogene or anti-oncogene.

（1）转染突变的大肠癌细胞mtDNA后转染细胞的mtDNA均可发生多处的突变位点。（2）通过转染后突变的外源性的mtDNA可以整合到核基因组内。（3）突变的mtDNA转染LST细胞及NIH3T3细胞后，不影响转染细胞的凋亡改变。（4）mtDNA的突变可能通过影响体细胞mtDNA的突变和通过外源性mtDNA在核内的整合从而影响癌基因或抑癌基因的表达异常，从而参与肿瘤的发生发展。线粒体DNA；D―环区；突变；质粒；pcDNA3.1；转染

So far as reality means experienceable reality, both it and the truths men gain about it are everlastingly in process of mutation mutation towards a definite goal, it may be--but still mutation.

只要实在的意思是可以被人们所感知的实在，实在和人们所得关于实在的真理便永远处于变化过程之中——或许是朝着特定目标的变化，但说到底仍是变化。

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。