Genetic Basis for Disease

These flashcards cover key vocabulary related to the genetic basis for disease, including definitions of genetic sequencing methods, types of mutations, and specific diseases.

Whole Genome Sequencing (WGS)

A method for sequencing an entire genome.

Whole Exome Sequencing (WES)

A technique that sequences only the exonic regions of the genome, which are about 2% of the total genome.

Autosomal Recessive Disease

A genetic disorder that requires two copies of a mutated gene to manifest.

Heterogeneity

The phenomenon where multiple genes can influence a single disease.

Gain of Function Mutation

A mutation that results in a protein with enhanced or new functions.

Loss of Function Mutation

A mutation that results in a gene product with reduced or abolished function.

Hemoglobinopathies

Disorders caused by mutations in the hemoglobin gene that affect the structure or production of hemoglobin.

Sickle Cell Disease

A genetic disorder characterized by a mutation in the beta-globin gene, leading to deformed red blood cells.

Ectopic Expression

Gene expression in an inappropriate tissue or at an inappropriate time.

Heterochronic Expression

Gene expression at the wrong stage of development.