Lecture 11 PPT Molecular Principles of Genetic Diseases

This set of flashcards covers key vocabulary and concepts related to molecular principles of genetic diseases and human genetics.

Mutation

A change in the DNA sequence that can lead to genetic disorders.

Hemoglobin

A protein in red blood cells that carries oxygen; consists of alpha and beta chains.

Sickle Cell Anemia

A genetic disorder caused by a mutation in the β-globin gene, leading to sickle-shaped red blood cells.

Thalassemia

A genetic disorder characterized by reduced levels of hemoglobin due to mutations in α- or β-globin.

Allelic Heterogeneity

The occurrence of more than one allele at a locus that contributes to a genetic disorder.

Locus Heterogeneity

When mutations in different genes (loci) produce the same phenotype.

Clinical Heterogeneity

The presence of multiple phenotypes resulting from mutations at a single locus.

Methemoglobinemia

A blood disorder where hemoglobin is unable to effectively release oxygen to body tissues.

Ectopic Expression

The inappropriate expression of a gene in a cell type where it is normally not expressed.

Polynucleotide Repeats

Repeats of a particular sequence of nucleotides that can lead to genetic diseases.

Huntington Disease

A genetic disorder caused by CAG trinucleotide repeats, characterized by uncontrollable movements and cognitive decline.

Anticipation

A phenomenon where subsequent generations exhibit an earlier onset or more severe symptoms of a genetic disorder.

Hb S

The abnormal hemoglobin produced in sickle cell anemia due to a mutation in the β-globin gene.

Hb Hammersmith

A variant of hemoglobin associated with protein instability.

Gain of Function Mutations

Mutations that lead to a new or enhanced function of a protein.

Protein Expression Timing

The regulation of when and where a protein is produced in the body.

Cognitive Loss

The decline in cognitive function, often associated with disorders like Huntington disease.

DNA Polymerase Slippage

A mechanism that can lead to the expansion of nucleotide repeats during DNA replication.

Charcot-Marie-Tooth Disease Type 1A

A genetic condition caused by mutations affecting peripheral nerves.

β-Thalassemia

A form of thalassemia specifically resulting from mutations in the β-globin gene.

Metabolic Disorders

Disorders caused by enzyme deficiencies that led to metabolic imbalances.

Hemolysis

The breakdown of red blood cells, which can occur in diseases like Sickle Cell Anemia.

Glu 6 Val

The specific mutation in the β-globin gene that causes sickle cell anemia.

Fraction of Normal Hb

The percentage of normal hemoglobin present relative to total hemoglobin.

Protein Structure

The three-dimensional arrangement of atoms in a protein, which is crucial for its function.

Oncogenes

Genes that have the potential to cause cancer when mutated or expressed at high levels.

HPFH

Hereditary Persistence of Fetal Hemoglobin; a condition where fetal hemoglobin continues to be produced.