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Brain disease “resistance gene” could offer insights into CJD（图）
Brain disease resistance gene Kuru
2009/11/24
A community in Papua New Guinea that suffered a major epidemic of a CJD-like fatal brain disease called kuru has developed strong genetic resistance to the disease, according to new research by (MRC) ...
Characterization of the human GYS2 gene and its product using bioinformatic tools
Glycogen synthase genomics evolution promoter expression
2009/7/6
Aim: The GYS2 gene, which encodes for glycogen synthase 2 (liver) (GS), is an enzyme responsible for the synthesis of 1,4-linked glucose chains in glycogen. The present study aimed to investigate th...
The Use of a Nonradioactive Digoxigenin Labeled Probe for Detection of Apo(a) Gene Size
Lp(a) coronary artery disease dot blot analysis DIG-labeling apo(a) gene
2009/6/30
Elevated lipoprotein(a) [Lp(a)] concentrations are associated with premature coronary heart disease and early myocardial infarction. In the general human population the sizes of apolipoprotein [apo(a)...
Detection of the SRY Gene in a 46,XY Phenotypic Female by the PCR-SSCP Method
PCR-SSCP Sex reversal SRY 46 XY Female
2009/6/30
The short arm of the human Y chromosome determines maleness, initiating the development of the testes. Mutations and deletions in this region affect gonadal differentiation, causing primary sex revers...
IFN-g-Mediated Transcriptional Induction of the IDO (Indolamine 2,3-Dioxygenase) Gene Requires Activity of p68/PKR Protein Kinase
IFN p68/PKR IDO transcription
2009/6/26
We investigated whether the activity of double-stranded RNA activated kinase (p68/PKR) is necessary for induction of IDO (indolamine 2,3 -dioxygenase) gene by IFN-g. For this purpose, we planned to ab...
Detection of Human Cytomegalovirus Gene in Formalin-Fixed Paraffin-Embedded Fetal Tissues
Diagnostic application of the ligation-dependant polymerase chain reaction
2009/6/26
Cytomegalovirus (CMV) is an opportunistic pathogen that can cause infection at any time during the course of a lifetime and constitutes an important cause of intrauterine infection and death in newbor...
Quantification of The FLI1 Gene Expression By Real-Time Quantitative RT-PCR
Gene expression FLI1 PML-RARA Real Time RT-PCR
2009/6/25
In this study, quantification levels were investigated to define alterations in the expression of the FLI1 gene on acute promyelocytic leukemia (APL), which is characterized by a reciprocal t(15,17) t...
Vitamin D Dependent Down Regulation of Arf1 Gene in Human Leukemia Cell Line HL-60
Gene expression ARF1 Vitamin D Real-Time RT-PCR
2009/6/24
ADP-ribosylation factor 1 (ARF1) is a gene belonging to the ARF gene family. ARF genes, small guanine nucleotide-binding proteins, constitute a family of the RAS superfamily. This superfamily function...
Expression of the Tumour Suppressor Gene p53 in Odontogenic Cysts
Odontogenic cysts p53 protein immunohistochemistry
2009/6/24
The protein p53 seems to be related to the suppression of cell proliferation. Positive tissues appear to have a higher proliferative activity than negative tissues. Mutation of the p53 tumour suppres...
Chromosome and p63 Gene Analysis of an Infant with Ectrodactyly–Split Hand and Foot Malformation
Ectrodactyly bilateral syndactyly flat-syndactyly foot split-syndactyly hand p63 gene cytogenetics
2009/6/17
Aim: Split hand-split foot malformation (SHFM) results from central ray reduction and presents as median clefts of the hands and feet, syndactyly, aplasia or hypoplasia of the phalanges, metacarpals ...
Genetic Variability of the Serine-Rich Gene of Entamoeba histolytica in Clinical Isolates from Turkey
E.histolytica SREHP serine rich E.histolytica protein PCR genetic diversity
2009/6/16
Aim: The spectrum of clinical intestinal disease due to Entamoeba histolytica infection ranges from an asymptomatic carrier state to fulminant colitis with an array of manifestations. The extent of st...
Mutational Analysis of the MEFV Gene in Egyptian Patients with Familial Mediterranean Fever
Department of Paediatric Molecular Genetics,Faculty of Medicine,Ankara University,Ankara-TURKEY Children's Hospital,Ain Shams University,Cairo,EGYPT
2009/5/20
Aim: Familial Mediterranean fever is an autosomal recessive disease affecting primarily populations surrounding the Mediterranean basin. The aim of this study was to find the distribution of MEFV gen...
应用PCR技术对先天性长QT综合征KCNQ1基因进行定点突变的研究PCR Site-Directed Mutagenesis of Long QT Syndrome KCNQ1 Gene in vitro
长QT综合征 KCNQ1 PCR 定点突变
2008/1/20
摘要
利用聚合酶链反应（PCR）技术对长QT综合征（LQTS）KCNQ1基因进行定点突变的研究。首先设计两对引物（包含预定的突变），通过3轮PCR扩增，扩增出含有所需突变位点的片段，然后将片段克隆入T载体中，通过酶切连接的方法将突变点引入到pIRES2-EGFP-KCNQ1中，随后用Effectene转染试剂介导转染HEK293细胞。结果在真核表达载体pIRES2-EGFP-KCNQ1基础上获得...
组织蛋白酶D基因C224T多态与散发阿尔茨海默氏病的关联研究The C224T Polymorphism in the Cathepsin D Gene is not Associated with Sporadic Alzheimer’s Disease in Chinese
阿尔兹海默氏病 组织蛋白酶基因 多态性 限制性片段长度
2008/1/10
摘要
组织蛋白酶D（Cathepsin D）是一种细胞核内体/溶酶体内的门冬酰胺蛋白酶。它有可能通过剪切淀粉样前体蛋白参与阿尔茨海默氏病（Alzheimer’s disease, AD）相关的神经退化。在以德国人为对象中的研究显示组织蛋白酶D基因（CTSD）C224T多态与AD发病风险紧密相关。然而，此结果未能在另一些群体中得到重复。为此，我们通过聚合酶链反应-限制性片段长度多态性方法分析了C...
苯丙氨酸羟化酶（PAH）基因外显子7及其两侧内含子的突变研究Mutations in Exon 7 of the Phenylalanine Hydroxylase（PAH）Gene in Chinese Patients with Phenylketonuria
苯丙氨酸羟化酶 外显子 基因突变 单链构象多态性 序列分析
2008/1/6
为探讨中国苯丙酮尿症（PKU）人群中苯丙氨酸羟化酶（PAH）基因外显子7的突变特征，对147例PKU患儿的294个PAH基因外显子7以及两侧部分内含子序列，应用PCR－单链构象多态性（SSCP）分析及基因序列分析的方法进行了筛查和确定。共发现13种突变基因：G239D、R241C、R241fs、R243Q、G247S、G247V、R252Q、L255S、R261Q、M276K、E280G、P281...