In this article we will discuss about the basics of mutation screening by Denaturing High-Performance Liquid Chromatography (DHPLC). Introduction to Basics of Mutation by DHPLC: Studies of sequence variation are an integral part of genome research, because of differences in the genomic sequences between individuals. Variations in mammalian genomic sequences occur at an estimated frequency of at least one base [...]
In this article we will discuss about the influence of PCR on DHPLC polymorphism characterization. Introduction: Denaturing high performance liquid chromatography (DHPLC) has emerged as a powerful tool to detect polymorphisms and mutations in genomes of living organisms. Relative to other mutation detection techniques such as sequencing, primer extension, and SSCP, DHPLC is: 1. Sensitive: Clear separation between signal and [...]
In this article we will discuss about the mutation detection in the Tuberous Sclerosis Genes TSC1 and TSC2 by DHPLC. Overview of Tuberous Sclerosis (TSC): TSC is a relatively variable clinical syndrome, in which several pathologic manifestations are highly specific for the disease. The cardinal feature is the cortical tuber, which is a distinctive form of brain hamartia. Hamartias and [...]