点突变、小和大规模的缺失、染色体异常。
Point mutations, small and large-scale deletions, chromosomal abnormalities.
用单链构象多态性对扩增片段进行点突变检测。
The point mutations in these fragments were detected by SSCP.
运用核酸酶保护试验观察rb基因的点突变现象。
Applying RNase Protection assay, the point mutation in the RB gene was observed.
此外，体细胞点突变与特定临床特征及预后相关。
Moreover, somatic point mutations were associated with specific clinical features and prognosis.
错义突变引起蛋白质中一个氨基酸变化的点突变。
Missense mutation a point mutation that causes a change in one amino acid of a protein.
过去主要是通过亲和标记和点突变等实验方法进行研究。
In the past, the Affinity Labeling and Site-Directed Mutagenesis are the primary methods to study amine receptor.
目的：探索线粒体dna点突变与遗传性共济失调的关系。
Objective: to study the possible relationship between mitochondrial DNA point mutations and hereditary ataxia.
我们发现胰腺癌平均含有63个基因的改变，大多数为点突变。
We found that pancreatic cancers contain an average of 63 genetic alterations, the majority of which are point mutations.
目的研究线粒体dna点突变与遗传性共济失调(HA)的关系。
Objective to study the possible relationship between mitochondrial DNA point mutations and hereditary ataxia (HA).
结果我们研制的芯片能同时特异性地检测耐药相关单一或多位点突变。
Results The microarray can identify a single base change of selected lamivudine resistance-related mutation and multiple mutation detection by a single assay as well.
根据揭示多态性的限制性内切酶的数量可将产生的突变大多归为点突变。
Based on the number of restriction enzyme detecting RFLPs, most of mutations were attributed to point mutation.
目的研究P53基因第5～6外显子点突变与儿童白血病发生之间的关系。
Objective To discuss the relation between exon5-6point mutations of P53gene and occurrence of leukemia in children.
目的探讨皮肤光老化与真皮成纤维细胞线粒体DNA复制控制区点突变的关系。
Objective to investigate the relationships between skin photoaging and point mutations in mitochondrial DNA (mtDNA) control region for replication of dermal fibroblast.
结论这些结果表明，红细胞CR 1基因点突变率升高与免疫发病机理有相关性。
Conclusions These results can indicate that the spot mutation of ECR1 gene in young patients with malignancy may be related to immunopathological mechanism.
传统的化学诱变方法，能诱发产生高密度的点突变，获得遗传背景相似的突变体。
The traditional method of chemical mutagenesis can produce high-density induced mutations with similar genetic background.
温度梯度凝胶电泳(TGGE)是一种用于检测核酸序列变异和点突变的电泳方法。
Temperature gradient gel electrophoresis (TGGE) is a new and powerful electrophoresis method for separation of nucleic acids (DNA and RNA) and analysis of sequence variations.
目的：探讨ABCB 4基因点突变与妊娠期肝内胆汁淤积症(ICP)发病的关系。
AIM: To investigate the relationship between the point mutation of ABCB4 gene and intrahepatic cholestasis of pregnancy (ICP).
结论JAK2V 617 F点突变阴性的PV患者中存在JAK2外显子12突变。
Conclusion JAK2 exon 12 mutations could exist in JAK2V617F-negative PV patients.
伴随DNA改变的基因损伤会导致基因的点突变、染色体间基因移位和扩增性基因复制。
Genetic damage with DNA alterations leads to point mutations of genes, translocations of genetic material between chromosomes, and gene reduplication with amplification.
结果成功引入点突变并构建置换型打靶载体，转染es细胞后经药物筛选得到抗性细胞克隆。
The drug resistant cell clones were picked after drug selection. Results The construction of targeting vectors was successful and several drug resistant es cell clones were gained.
结论3BS - PCR方法操作简单经济，提供了有应用价值的大规模筛检dna点突变的方法。
Conclusion 3bs-pcr, a simple and economical method, could support us with an alternatively valuable assay for screening DNA point mutations from large number samples.
目的：探讨ABCB4基因外显子23点突变与妊娠期肝内胆汁淤积症（ICP）发病的关系。
Objective To investigate the relationship between the point mutation of ABCB4 gene exon 23 and the intrahepatic cholestasis of pregnancy (ICP).
另6例JAK2V617F点突变阴性患者仅1例有血栓史，血小板数目及骨髓巨核细胞数目相对较低。
Out of other 6 IMF patients without JAK2V617F point mutation only 1 patient had thrombosis, and lower counts of platelets in perepheral blood and megakaryocytes in bone marrow.
目的探索H BV作为基因治疗载体的可能性及检验HBV点突变表达显性阴性突变体抗hbv的作用。
Objective to explore the possibility of using HBV as a gene delivery vector, and to test the anti-HBV effects by intracellular expression of dominant negative mutants of core protein.
毛球标本的线粒体点突变检测率高于血液，因此在线粒体相关疾病的基因分析中具有较高的临床应用价值。
The point mutation detection rate of hair follicles was higher than that of blood. So, hair follicles have the potent clinical application value for the genetic analysis of mitochondrial diseases.
抗叶酸类抗疟药的抗药性机制已基本搞清，与其作用靶酶二氢叶酸还原酶或二氢蝶酸合成酶基因点突变相关。
The molecular mechanism of resistance to the antifolates has been well characterisied and is due to structural changes in the target enzymes resulting from the point mutations of DHFR or DHPS gene.
过去有关进化的数学模型主要用于研究点突变对物种的影响，即DNA链或基因组中的单核苷酸的随机突变。
Past mathematical models of evolution have focused largely on how populations respond to point mutations - random changes in single nucleotides on the DNA chain, or genome.
这种技术可在DNA靶标分子的任意位点进行基因敲除、敲入、点突变等操作，无需使用限制性内切酶和连接酶。
The Red mediated recombination can be used to insert, delete or substitute DNA sequences at any desired position on a target molecule without the need for restriction enzymes or DNA ligases.
我们运用点突变的方法，基于对各区域的结构的分析系统的设计了一系列突变体，并在体外测试了各突变体的活性。
We designed a serious of mutants to test their in vitro activities based on the analysis of each functional area of the structure.
我们运用点突变的方法，基于对各区域的结构的分析系统的设计了一系列突变体，并在体外测试了各突变体的活性。
We designed a serious of mutants to test their in vitro activities based on the analysis of each functional area of the structure.
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