In this article we will discuss about the rapid analysis to detect base changes in human mitochondrial DNA by restriction enzyme analysis followed by Denaturing High Performance Liquid Chromatography (DHPLC). Introduction to Mitochondrial Genome Analysis: Mitochondria are DNA-containing organelles found within the cytoplasm of eukaryotic cells. Their main function is to provide energy for cellular activity in the form of [...]
In this article we will discuss about the mutation analysis of the BRCA1 and BRCA2 genes. The BRCA Genes and Hereditary Breast and Ovarian Cancer: During the last decade several genes responsible for autosomal dominant transmission of greatly increased risk of specific cancers were identified. Although it has been known for years that some families exhibited an apparÂently autosomal dominant [...]
In this article we will discuss about the mutation analysis of LDLR mutations in patients with familial hypercholesterolaemia. Introduction to Mutation Detection in the LDLR Gene: In some families, the risk of early coronary heart disease is considerably raised by the inheritance of a specific mutation, in one of two genes (apolipoprotein B, ApoB [OMIM #107730], or low-density lipoprotein receptor, [...]