point mutation

The Application of Denaturing High Performance Liquid Chromatography for Detection of Point Mutation of Familial Alzheimer Disease

变性高效液相色谱法在家族性阿尔茨海默病突变位点检测中的应用

AIM: To investigate the characteristics of point mutation distribution in TNF-α gene promoter region, and to explore the relationship between hepatitis B virus ( HBV) infection and the polymorphism of TNF-α gene in Chinese Han Population.

目的：调查我国汉族健康人群和乙肝患者中TNF-α基因启动子区点突变的分布特点，并探讨HBV感染与TNF-α基因多态性之间的关系。

Objective To evaluate the mechanism of secondary failure to glibenclamide in type 2 diabetic patients and the role of mitochondrial gene position 3243 point mutation ( A → G) in the etiology of secondary failure.

目的了解优降糖继发失效的2型糖尿病患者对不同胰岛素刺激物的反应，探讨线粒体基因第3243位点A→G突变在优降糖继发失效病因学的作用。

A point mutation at codon 12 of the Ki-ras oncogene in myelodysplastic syndrome

骨髓增生异常综合征和急非淋白血病患者Ki－ras癌基因12位密码子点突变

Relationship between Basal Core Promoter Combined Point Mutation of Hepatitis B Virus and TCM Syndrome Type

乙型肝炎病毒BCP联合点突变与中医证型的关系

A point mutation is foundin two patients at nucleotide 31119 , resulting in G ( CGA ) to A ( CAA ).

发现这两例都发生在31119位的碱基替换, G ( CGA ) →A ( CAA ).

Human Papilloma Virus Infection and p53 Point Mutation in Laryngeal Neoplasms

喉部肿瘤HPV感染与p53基因变异的研究

The DNA sequences of positive product shows that: there are two point mutation ( T → C) in the sequences of ⅴ~ⅶ variable regions of throat swab of one pediatric patient, other sequences are same as those Mg type strain ( G 37 T).

阳性产物DNA测序显示，除1例上感儿童咽拭子的第Ⅴ～Ⅶ可变区序列存在二个T→C点突变外，其余与Mg标准株（G37T）序列相同。

There are multiple molecular mechanisms that can cause genetic disorders such as point mutations, splicing site mutation, insertion/ deletion mutations, gene duplication, complex rearrangements and gene copy number abnormalities.

引起遗传性疾病的分子机制有多种，常见的有点突变、小片段插入/缺失突变、拼接位点突变、外显子缺失/重复突变、基因重复和复杂重排及基因拷贝数异常等。

Result: We had not point mutation in all subjects.

结果: 所有对象均未检测到点突变.

PCR-SSCP was a convenient and efficient method to detect gene point mutation.

PCR-SSCP是检测基因点突变的一种快速、敏感、有效的方法。

Detection of Keratin 10 Gene Point Mutation in a Family with Bullous Congenital Ichthyosiform Erythroderma by PCR and DNA Sequencing

聚合酶链反应-DNA测序检测大疱性先天性鱼鳞病样红皮病家系角蛋白K10基因点突变

Conclusion: The point mutation in this area of mitochondrial DNA might not be related hereditary ataxia.

结论: 遗传性共济失调的发生、发展可能与该区域点突变无关.

In a point mutation, a single letter of the genetic code changes to another letter.

SM报道。在单位点突变种，一个遗传编码的字母换成了另外一个。

A novel point mutation in NADH cytochrome b5 reductase gene

一种新的NADH-细胞色素b5还原酶基因点突变

Results Two polypoid adenoma cases were found Ki ras point mutation positive.

结果两例息肉性腺瘤组织中1/2（50%）发生了Ki ras点突变。

Study on 76 point mutation of chloroquine resistance transmembrane transporter gene in Plasmodium falciparum in Yunnan Province

云南恶性疟原虫氯喹抗药性基因76位点突变研究

The Cumulation of Point Mutation and Molecular Evolution

点突变积累与分子进化

Genotyping Techniques of Identifying Point Mutation Associated with Target Resistance

维生素E的检测技术靶标抗性点突变基因型检测技术

Analysis of k-ras point mutation in human colorectal cancer cell lines HR 8348 and HCe 8693

人大肠癌细胞系HR8348和HCe8693K－ras基因的点突变分析

Conclusion Abore point mutation is an inherited gene mutation.

结论表明该突变为一遗传性突变.

Objective: To investigate the variation action of p53 point mutation in esophagus carcinoma, precancerosis and the p53 quantitative analysis relationship with patient's prognosis.

目的：研究p53基因点突变在食管癌及癌前病变粘膜细胞癌变过程中的变异作用及定量分析，对病人预后的关系。

Detection of K-ras Point Mutation by Unmodified Gold Nanoparticles and Allele-specific Amplification

未修饰的纳米金结合等位特异性扩增来检测K-ras基因点突变

With genome DNA as template, three upstream primers ( R1 、 R2 、 R3) targeting point mutation of K-ras oncogene codon 12 and common downstream primer ( R4) were added respectively. PCR was employed to amplify corresponding fragment with Taq DNA polymerase.

以基因组DNA为模板，分别加入针对K-ras第12密码子的三种主要突变方式设计的PCR上游引物R1、R2、R3和共同的下游引物R4，在taq DNA聚合酶作用下扩增相应片段。

Results A point mutation was found in one family with substitution of 4142C by T which resulted in the change of the CCG codon for Pro 1314 to the codon for Ser ( TCG). 2 male patients and their mother all had such abnormality.

结果在一个家系中发现4142C→T（Pro1314Ser）的转换突变，先证者与其弟、其母均发现有此异常。

The Transcriptional Regulation Study on Human δ Globin Gene with CAAT Box C → T Point Mutation in Its Promoter

人δ珠蛋白基因启动子区CAAT盒C→T突变对其转录的影响