Educational Case: Genetic Mutations and Multifactorial Inheritance

Genetic Mutations and Multifactorial Inheritance

The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology. These are divided into three basic competencies: Disease Mechanisms and Processes, Organ System Pathology, and Diagnostic Medicine and Therapeutic Pathology. For additional information, and a full list of learning objecti...

Mitochondrial DNA Mutations, Pathogenicity and Inheritance

Mitochondria contain their own DNA (mtDNA), which codes for 13 proteins (all subunits of the respiratory chain complexes), 22 tRNAs and 2 rRNAs. Several mtDNA point mutations as well as deletions have been shown to be causative in well-defined mitochondrial disorders. A mixture of mutated and wild type mtDNA (heteroplasmy) is found in most of these disorders. Inheritance of mtDNA is maternal, a...

The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations

Familial hypercholesterolemia (FH) is a genetic disorder of lipoprotein metabolism characterized by high plasma concentrations of low-density lipoprotein cholesterol (LDLc), tendon xanthomas, and increased risk of premature coronary heart disease. FH is one of the most common inherited disorders; there are 10,000,000 people with FH worldwide, mainly heterozygotes. The most common FH cause is mu...

Multifactorial inheritance hypothesis for the etiology of congenital heart diseases. The genetic-environmental interaction.

Complex Multifactorial Genetic Diseases

A trait is often of interest by virtue of being either highly desirable, for example intelligence, or highly undesirable, for example cancer. Genetic influence over the trait can be established inmanyways including twin studies, clustering statistics and statistical modelling. Once the existence of a genetic component has been established, the next step is to locate the genes involved. The ease...