1) jak2v617f mutation
jak2v617f点突变
1.
To evaluate the frequency of jak2v617f mutation and analyze its correlation with clinical features of primary thrombocythemia(PT)patients,the mutation was detected by allele specific polymerase chain reaction(AS-PCR),the clinical and laboratory datas in 66 PT patients with and without jak2v617f mutation were compared and clinical features of these PT patients were retrospectively analyzed.
为探讨jak2v617f点突变与原发性血小板增多症(primary throm bocythemia,PT)的临床相关性,回顾性统计66例PT患者的临床及实验室检查资料,应用等位基因特异性-聚合酶链反应(AS-PCR)检测jak2v617f点突变,分析比较jak2v617f点突变阳性与阴性两组患者的临床及实验室指标。
2.
To investigate JAK2V617F mutation and its clinical significance in patients with idiopathic myelofibrosis (IMF), genomic DNA was extracted from peripheral blood cell samples of 12 IMF cases .
为了探讨特发性骨髓纤维化(IMF)JAK2V617F点突变发生率及其临床意义,运用等位基因特异性聚合酶链式反应(AS-PCR)检测12例IMF患者的JAK2V617F点突变,并探讨JAK2V617F变化与临床、血液学特征的相关性。
2) JAK2V617F mutation
JAK2V617F突变
1.
This study was aimed to analyze the correlation of JAK2V617F mutation burden with clinical features in patients with polycythemia vera (PV) and essential thrombocythemia (ET),The JAK2V617F mutation ratios in 47 PV samples and 43 ET samples were detected by real-time PCR.
为分析真性红细胞增多症(polycythemia vera,PV)和原发性血小板增多症(essential thrombocythemia,ET)患者JAK2V617F突变负荷和患者临床特征的相关性,利用荧光实时定量PCR方法检测90例初诊骨髓增殖性疾病(myeloproliferative disorder,MPD)患者(包括47例PV和43例ET)外周血标本中JAK2V617F突变基因负荷,统计分析JAK2V617F负荷和患者外周血中血红蛋白、红细胞压积、白细胞计数和血小板计数的相关性。
3) point mutation
点突变
1.
Relationship between JAK2 V617F point mutation and clinical characteristics of BCR-ABL negative myeloproliferative diseases patients;
JAK2V617F点突变与BCR-ABL阴性骨髓增殖性疾病临床关系研究
2.
Identification of disease-causing point mutations in DMD patients dystrophin gene without large deletions/duplications;
非缺失/重复型Duchenne肌营养不良症患者的致病点突变分析
3.
Study of mitochondrial DNA point mutations at positions 3243, 8993 in hereditary ataxia;
遗传性共济失调线粒体DNA3243、8993点突变的研究
4) cusp catastrophe
尖点突变
1.
A research on the cusp catastrophe model of rockburst at the working surface of coal mining;
采掘工作面发生冲击地压的尖点突变模型研究
2.
Application of cusp catastrophe model to the groundwater specific vulnerability assessment;
尖点突变模型在地下水特殊脆弱性评价中的应用
3.
Study on ship rolling and capsizing based on the cusp catastrophe
基于尖点突变的船舶横摇倾覆研究
5) site-directed mutagenesis
定点突变
1.
Site-directed mutagenesis of functional gene fragment producing CTX-M-14-type extended-spectrum β-lactamase;
CTX-M-14型超广谱β-内酰胺酶基因的定点突变研究
2.
Study on site-directed mutagenesis and kinetics of trehalose synthase from Thermobifida fusca;
Thermobifida fusca海藻糖合成酶的定点突变及其动力学性质研究
3.
The Expression of hBmp-4 in the Pichia Pastoris and Its Site-Directed Mutagenesis;
hBmp-4在甲醇酵母中的表达及其定点突变
6) Site directed mutagenesis
定点突变
1.
Using recombinant glucagon expression system,the 21st aspartic acid was changed to be alanine by means of site directed mutagenesis.
在获得重组胰高血糖素基因工程菌基础上 ,利用定点突变技术改造其第 2 1位氨基酸天冬氨酸为丙氨酸 ,并经DNA测序证明胰高血糖素基因发生了点突变 。
2.
Two p 16 mutants, P48L and D74N, were obtained by site directed mutagenesis using two step PCR method.
应用ＰＣＲ体外定点突变技术，构建了ｐ１６－Ｐ４８Ｌ和ｐ１６－Ｄ７４Ｎ突变体。
3.
Human brain derived neurotrophic factor gene was used as template for oligonucleotide based site directed mutagenesis and PCR.
应用寡核苷酸诱导的定点突变和ＰＣＲ技术对人脑源性神经营养因子基因进行突变，并完成了测序鉴定。
补充资料：点突变
点突变
又称为"基因突变"。是指细胞内DNA分子链上某一区段在结构上发生碱基对组成或排列顺序的改变，通常可引起一定的表型变化。基因突变是新基因产生的方式，也是生物进化的重要因素之一，基因突变可以是自发的也可以是诱发的。遗传物质的突变广义上包括染色体畸变，狭义上专指点突变，实际上畸变和点突变的界限并不明确，特别是微细的畸变更是如此。
说明：补充资料仅用于学习参考，请勿用于其它任何用途。
参考词条