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山东大学医学院医学遗传学课件（七年制） genomic imprinting and gene mutation
山东大学医学院 医学遗传学 课件（七年制） genomic imprinting and gene mutation
2017/4/21
山东大学医学院医学遗传学课件（七年制） genomic imprinting and gene mutation。
A Novel Missense Mutation, E1623G,in the Human Factor VIII Gene Associated With Moderate Haemophilia A
Hemophilia A Mutation Missense F8 protein human
2015/10/10
Introduction:: Haemophilia A is the most common inherited X-linked recessive bleeding disorder. The severity of the resultant bleeding diathesis depends on the FVIII levels associated with the mutatio...
Detection of Mutation in 23S rRNA in Isolates of Streptococcus pyogenes Resistant to Erythromycin
Streptococcus pyogenes 23S rRNA erythromycin-resistance
2009/12/17
Background: In this study, erythromycin resistance isolates from the students with aged 12-15 yr old were studied and the mutations in the 23S rRNA were identified by sequencing.Methods: Throat sample...
Detection of Cystic Fibrosis DF508 Mutation in the Çukurova Region
Mutation Cystic Fibrosis Ç ukurova Region
2009/6/29
Cystic fibrosis (CF) is a well-known inherited multisystem disorder characterised primarily by chronic obstructive lung disease and maldigestion. The frequency of the disease varies among ethnic group...
Analysis of ras Gene Mutation in Human Oral Tumours by Polymerase Chain Reaction and Direct Sequencing
Oral tumour PCR Direct sequencing Tobacco-specific nitrosamines
2009/6/29
Genetic alterations in proto-oncogenes or tumour suppressor genes are believed to be one of the key events in the multistage process of carcinogenesis. Activating point mutations occurring in either o...
Identification of a Novel Frameshift Mutation [Codon 3 (+T)] in a Turkish Patient with b-Thalassemia Intermedia
b-thalassemia b-globin gene insertion frameshift mutation DNA sequencing
2009/6/22
b-Thalassemia, one of the most widespread genetic diseases in the world, is an autosomal recessive disease generally caused by point mutations in the b-globin gene that is located as a cluster on the ...
Mutation Analysis By The Use of Temporal Temperature Gradient Gel Electrophoresis
mutation mutation detection techniques molecular scanning nuclear gene mitochondrial mutations
2009/6/22
Today, technological development continues in the mutational analysis area of molecular medicine. In the past few years, the necessity to screen amplified DNA products to identify mutations or polymor...
CNE1、CNE2鼻咽癌细胞株中ATM/PI3K区基因突变的检测Study on Mutation of ATM/PI3K Region in NPC Cell Lines with Different Radiosensitivity
鼻咽癌 ATM 放射敏感性
2007/12/30
摘要为了探讨具有不同放射敏感性的CNE1、CNE2鼻咽癌细胞株中ATM/PI3K区基因突变的情况，采用反转录聚合酶链式反应（RT-PCR）技术和PCR产物直接测序方法（荧光标记的ddNTPs循环测序），对CNE1、CNE2中ATM的PI3K关键区域进行突变检测。结果表明，所测CNE1、CNE2中的ATM/PI3K区序列中没有发生突变，认为鼻咽癌细胞株CNE1、CNE2间内在的放射敏感性的差异可能与...
PCR及其衍生技术在基因突变检测中的应用Use of PCR Related Methods in Detection of Gene Mutation
基因敏感性 RNA 染色质重组 PCR 衰老
2007/12/30
摘要许多人类遗传性疾病及某些抗艾滋病药物的抗性乃至细菌对某些抗生素的抗药性通常源于基因突变。本文对近年来在基因突变检测中应用日益广泛的各种PCR 衍生技术作一综述；重点介绍了错配PCR技术，以及我们实验室近期报道的一种快速检测喹诺酮类药物耐药大肠杆菌的错配PCR方案。
Abstract:Many inherited diseases and drug resistance have been a...
MJD基因CAG不稳定性扩增与临床研究Gene Mutation and Clinical Analysis in Machado-Joseph Disease
Machado-Joseph病 基因突变 临床电生理
2007/12/7
摘要为了解Machado-Joseph病(MJD)基因突变及临床的神经电生理特点, 对16个诊断为遗传性小脑性共济失调(SCA)家系的45例病人及30例家系的“正常”人作MJD基因突变分析，检出MJD基因的病人行肢体运动及感觉神经传导速度(MCV及SCV)、脑干诱发电位(BAEP)，视觉诱发电位(VEP)的检查。结果检出10个家系25例病人及1例症状前18岁女孩有MJD基因突变，CAG三核苷酸重复...
Mutation Analysis of CFTR Gene in 70 Iranian Cystic Fibrosis Patients
Cystic fibrosis Cystic fibrosis transmembrane conductance regulator Mutations Iran Single-stranded conformational polymorphism
2010/2/3
Cystic fibrosis (CF) is the most common inherited disorder in Caucasian populations, with over 1400 cystic fibrosis transmembrane conductance regulator (CFTR) mutations. The type of mutations and thei...
FAMILIAL DEFECTIVE APOLIPORROTEIN B 100: FREQUENCY OF R3500Q MUTATION OF APOLIPOROTEIN B GENE IN IRANIAN HYPERCHOLESTEROLEMIC PATIENTS
Familial defective apolipoprotein familial hypercholesterolemia
2010/2/3
Familial defective apolipoprotein (apo) B 100 (FDB) causes early-onset coronary heart diseases (CHD). It is produced by R3500Q mutation of the apoB gene resulting in decreased binding of LDL to LDL re...