We characterized the molecular defect in a Swiss patient with a spontaneous beta-thalassemia mutation. Cloning and DNA sequencing of her beta-globin gene revealed a new frameshift mutation due to a single nucleotide deletion at codon 64 of the beta-globin gene. Restriction site polymorphism showed that the mutation arose on her paternal chromosome. Direct sequencing of a polymerase chain reacti...

the study of cytokines gene expression is quite important in various conditions of health and disease for the evaluation of clinical responses to new vaccination approaches. an absolute quantification is based on a calibration curve and production of standard controls to achieve more reliable results than in relative system. in this study we attempted to construct standard controls to evaluate ...

INTRODUCTION 110 PRE-PCR STEPS 111 INVENTIONS MADE IN “ABSOLUTE” QUANTIFICATION ASSAYS 112 HOW THE RELATIVE QUANTIFICATION STRATEGY CHANGED 114 WHAT ABOUT PCR EFFICIENCY? 115 ASSAY VARIANCE AND HOW TO PERFORM A PROPER NORMALIZATION 116 EXPRESSION PROFILING, qPCR BIOINFORMATICS, AND STATISTICAL ANALYSIS 117 WHAT IS NEXT IN REAL-TIME PCR? 118 GENE EXPRESSION AND MORE – THE SYSTEM BIOLOGY IDEA 120...

Soon after, Leonore was diagnosed with Huntington disease (HD). Nancy Wexler, who was pursuing a PhD in clinical psychology at the time of her mother’s diagnosis, devoted her life to the study of HD. In 1979, Wexler and her colleagues began a research project in Venezuela to search for the HD gene. They surmised that finding the gene was the most direct route to the development of treatments, e...

index case is 17 years old girl with ataxia of gait since 3 years ago. she has been walking normally in past. sensory is normal in her legs. ocular movements are normal. she has mild scoliosis. her electrocardiogram shows t-wave inversions. her parents are cousins& asymptomatic. she has 5 brothers & 3 sisters. one of her brothers & one of her sisters are wheelchair dependent. their history is s...

We compared two protocols for extracting DNA from dried blood spots for cytomegalovirus (CMV) DNA detection and quantification by real-time PCR. Both extraction methods were reliable for the retrospective diagnosis of CMV congenital infection. Quantification of CMV DNA was valuable after normalization of viral loads with albumin gene PCR amplification results.