查询词典 mutations

Objective To explore the role of C/EBPα gene mutations in the pathogenesisof acute myeloid leukemia.

目的：探讨髓系转录因子 C/EBPα基因突变与急性髓系白血病发生的关系。

In recent years,mutations of gene encoding gamma-aminobutyric acid A-receptor γ2 subunit (GABRG2) were founded linked to many kinds of epilepsy syndromes such as Febrile Seizure, Generalized Epilepsy with Febrile Seizure plus, Childhood Absence Epilepy, Severe Myoclonic Epilepsy of Infancy.

近年来许多学者通过体外扩增基因等研究发现在许多种癫痫综合征患者种都存在编码γ-氨基丁酸A型受体γ亚单位的基因异常，进而提出了GABRG2基因异常与多种癫痫的发病有关。

In D3 gene with 5 site mutations. There exists individual variation in the COII gene, but this variation is less than that among other members of Myzomyia Series such as An. aconitus, An. jeyporiensis, etc. In addition, one haplotype different from both An. minimus A and C was found in these 3 genes studied.②The genetic distance between An. minimus A and An. minimus C is less than that among other members of Myzomyia Series. Molecular trees based on different genes and different methods show that An.

种系发生研究表明，微小按蚊复合体亲缘种A、C间的遗传距离远小于与之近缘的同系其它成员间的距离。2个分子标记3种方法构建的基因树显示，微小按蚊A、C的种系地位非常固定，不同地域来源、不同变异类型的微小按蚊始终在同一分&枝&上，与迈蚊系其它成员相比，呈现其相对稳固的单源性。

RESULT ①Two different ITS2 sequences (GenBank accession number: AF416783, AF416784) and D3 sequences (AF416782, AF415594), named as An. minimus A and An. minimus C, were detected in this study. They differed by 5. 8％ in the ITS2 region with 22 fixed nucleotide substitutions and indels, and by 1. 5％ in D3 gene with 5 site mutations. There exists individual variation in the COII gene, but this variation is less than that among other members of Myzomyia Series such as An.

结果 ①分别发现两种不同的ITS2序列（GeneBank登录号：AF416783，AF416784）和D3序列（GeneBank登录号：AF416782，AF425594），与微小按蚊A和C同源。A、C两者ITS2序列22个固定位点存在碱基置换和插入／缺失，序列差异为4.8％；D3基因存在5个固定点突变，突变率1.5％。mtDNA-COII基因存在个体差异，但远小于同系其它成员如乌头按蚊、杰普尔按蚊间的变异。

In the C-terminal of the protein, there is a 40% homology to olfactomedin, which is a major component of the extracellular matrix of the olfactory neuroepithelium. The region includes all reported TIGR gene mutations, which indicates that it is associated with cellular binding activity.

在蛋白的 C-末端部分在一个区域与嗅觉介导素40%同源，嗅觉介导素是嗅神经上皮的细胞外基质的一种主要成分，这个区域含有所有已经报告的 TIGR 基因突变，提示其与细胞结合活性有关。

Moutains of evidences from laboratary and clinical data show that gene abnormality is the major etiological factor of over 40% patients affected with epilepsy.There were also 6 epilepsy genes been cloned successfully, and mutations of over 1000 genes maybe related to epilepsy. These abnormal genes influence many aspects from molecular level to the neuronal plasticity, such as the development of brain,neuronic degeneration, remodeling of neural circuits, energy metabolism, ion channel and so on.These factors would at last affect the formation of epilepsy focus, propagations of epileptic potentials, vulnerability of epilepsy cells.

大量的实验和临床资料提示基因异常是40%以上癫痫患者的病因，有6种常见全身癫痫的基因已被成功克隆，1000种以上的基因突变可能与癫痫的发作有关，这些表达异常的基因分布在脑发育、神经元变性及神经环路重组、能量代谢、离子通道等多个环节，从分子、细胞、神经元可塑性等多个方面影响着癫痫灶的形成、痫性放电的扩布及癫痫细胞的损伤，构成了癫痫的基因机制。

Niemann-Pick disease type C is a fatal, neurovisceral storage disease neuropathologically characterized by cytoplasmic sequestration of cholesterol in neurons and progressively widespread neuronal loss, caused by mutations in genes NPC1 and NPC2 (also HE1) which encode for proteins required for the intracellular trafficking of cholesterol from lysosomes to late endosomes.

C型Nimann-Pick病是一种致命性的神经内脏脂质沉积病，其主要病理特征为广泛、进行性的神经元脱失，它由分别位于18号和14号染色体上编码与细胞内转运胆固醇有关蛋白质的NPC1和NPC2基因突变所致。

Methods PCR- SSCP and DNA sequencing were used to analyze the PTCH gene mutations in 12 OKCs, including 10 sporadic and 2 nevoid basal cell carcinoma syndrome associated OKC.

方法采用PCR—SSCP筛查与DNA直接测序的方法对12例OKC进行PTCH基因突变的检测，其中2例为痣样基底细胞癌综合征相关OKC，10例为散发OKC。

To investigate distribution of gene mutations in LPL exon 9 in Chinese population and to study the possible effects of the mutation on plasma lipids, variants were screened by PCR-SSCP and DNA sequencing. Ser~(447)→stop polymorphism was identified by PCR-RFLP . the plasma lipids in stop447 carrier group and stop447 noncarrier group were compared and analysis.

为探讨中国人群LPL基因外显子9常见突变的种类、频率以及其可能产生的影响，我们利用聚合酶链反应-单链构象多态性分析和DNA测序技术及PCR-RFLP技术检测出我国人群的LPL外显子9基因突变、基因型和等位基因频率，确定了中国人群Ser~(447)→stop这一多态性位点。

In contrast, 10 (90.9%) of 11 cases contained nonsynonymous TP53 mutations characteristic of high-grade serous carcinomas.

相反，其中10例（90.9%）却发生了TP53基因的非同义突变，此突变是高级别浆液性癌的特征。

This one mode pays close attention to network credence foundation of the businessman very much.

这一模式非常关注商人的网络信用基础。

Cell morphology of bacterial ghost of Pasteurella multocida was observed by scanning electron microscopy and inactivation ratio was estimated by CFU analysi.

扫描电镜观察多杀性巴氏杆菌细菌幽灵和菌落形成单位评价遗传灭活率。