查询词典 mutation

To study genetic mutations of methylenetetrahydrofolate reductase C677T and cystathioinine-β-synthase T833C related to homocysteine metabolism in patients with ischemic stroke, the MTHFR gene C677T gene mutation and the CBS T833C gene mutation were detected by PCR-RFLP or ARMS method in 74 patients with ischemic stroke and 83 normal people for control. Results showed that the frequencies of MTHFR genet homogenetic type(2.7%), heterogenetic type(51.4%) and T allele(28.4%) in ischemic group were higher than those in control group(1.2%, 39.8% and 21.1%, respectively).

为研究同型半胱氨酸代谢相关酶亚甲基四氢叶酸还原酶基因C677T和胱硫醚-β合成酶基因T833C位点碱基突变与缺血性脑卒中的关系，对74例缺血性脑卒中患者和83例健康对照者，采用聚合酶链反应-限制性片段长度多态性技术检测MTHFR基因C677T基因型，用扩增阻滞突变体系法检测CBS基因T833C突变。

Moreover,7449, a novel homoplasmic mutation in the tRNA-Ser gene, was found to co-exist with 1555 mutation in two maternal members.

另外，新发现一个线粒体DNA突变--7449，但该突变仅在2名母系成员中存在。

Results Fourteen individuals from two pedigrees carried homoplasmic 1555G mutation. Seven sporadic patients and the five mothers did not have 1555G mutation.

结果 两个家系的14份样品为1555G点突变阳性，散发病例及部分亲属的12份样品全部为1555G点突变阴性。

The D-loop region was found to be a hot spot for somatic mutation in mtDNA of the tumors. The results revealed that 45.7 %(16/35) of the HCCs carried somatic mutation in the D-loop region, and the most mutations are homoplasmy.

过去的研究显示：粒线体DNA D-loop 区域是发生体突变的好发点，本论文的结果显示有45.7 %(16/35) HCC含有D-loop 区域体突变且多为同质性。

mitochondrial dnais the only inheritant substance except for the nuclear dna in a euˉkaryon cell,which is related to the oxidative phosphorylation of a cell.mitochondrial dna is the important target of carcinogens and is vulnerable because of its structure and function.the mutation of mtdna could reduce the nomal respitation and release large quantities of ros,whichincrease the danger of cancer happening.so,mtdna has been thought to be involved in carcinogenesis and recently more and more studies in this aspect have comeout.in this paˉper,we review the researches for relationship among mtdna mutation and tumors in digestion system,woman system,head and neck,urinary systemand blood system.

线粒体dna（mitochondrial dna，mt dna）是真核细胞中唯一存在的独立于核dna之外的遗传物质，与细胞的氧化磷酸化功能密切相关。mtdna自身的结构和功能特点决定了它是致癌物作用的重要靶点，易受致癌因素的损伤而发生突变。mtdna的突变可削弱正常的呼吸功能，释放高水平的活性氧，进而增加肿瘤发生的危险性，所以mtdna被认为与肿瘤发生有密切关系。近年来，这方面的研究越来越多，本文现就mtdna突变与消化系统肿瘤、妇科肿瘤、头颈部肿瘤、泌尿系统肿瘤等实体瘤以及血液系统恶性肿瘤之间的关系作一简单的综述。

Objective To analyze the role of p16 gene mutation in acute lymphoblastic leukemia genesis and mechanism of p16 gene mutation.

目的 探讨p16基因突变在白血病发生中的作用及基因突变的机制。

Compared with other HPV16 reference sequence, nucleotide sequencinganalysis of the HPV16 E6, E7 and L1 gene from Cervical Carcinoma Biopsis in Chengdu city and Chongqing of China consistently shows point mutations,including synonymous mutation and nonsynonymous mutation. This researchwill be helpful in preventing cervical cancer and designing vaccines which isspecific for the women in the two regions of China.

与标准序列比较，中国成渝地区HPV16亚型L1、E6和E7基因存在一定范围的变异，提示我们，在预防治疗成渝地区妇女宫颈癌病人以及研制开发针对成渝地区预防宫颈癌的HPV疫苗时，需要注意这些位点的变异，特别是一些引起氨基酸变异的位点。

The otological, audiological and neurological examinations of these patients were conducted, including otoscopy, pure-tone (Madsen 522) and immittance(GSI 33) audiometry. MtDNA A1555G mutation and GJB2 235delC mutation were detected with specific restriction enzyme digestion methods.

对 148 名非综合征型感音神经性耳聋患者分别进行线粒体 DNA 12SrRNA基因A1555G 点突变和 GJB2 基因235delC突变的限制性内切酶分析。

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。

The experiment shows that human pancreatic cancer cell line Patu 8988 has GGT→GTT mutation at codon 12. The method of PCR-SSP is rapid, convenient, economical and high specific for detecting K-ras gene point mutation. The goal in the long term is to develop a simple and useful clinical procedure for early diagnosis and differential diagnosis of pancreatic cancer.

明确了人胰腺癌细胞株Patu 8988 K-ras基因第12位密码子点突变方式，为胰腺癌的下一步基因治疗研究打下了坚实的基础；PCR-SSP方法检测K-ras基因点突变简便、快速、经济且特异性高，有望在临床上成为早期诊断和鉴别诊断胰腺癌的实用检测方法。

Do you know, i need you to come back

你知道吗，我需要你回来

Yang yinshu、Wang xiangsheng、Li decang,The first discovery of haemaphysalis conicinna.

1〕 杨银书，王祥生，李德昌。安徽省首次发现嗜群血蜱。