Pathophysiology: Genetics and Genetic Disorders

These flashcards cover key terms and concepts related to genetics and genetic disorders in pathophysiology.

Congenital Disorders

Disorders that people are born with, resulting from genetic mutations.

Gene Mutation

An error in the replication of a gene, resulting in a change in DNA sequence.

Phenotype

The observable characteristics or traits of an organism, resulting from gene expression.

Genotype

The genetic makeup of an organism, representing the alleles present.

Autosomal Dominant Inheritance

Inheritance pattern where only one copy of a mutated gene is required for expression of the disease.

X-linked Recessive Inheritance

Inheritance pattern where the mutated gene is located on the X chromosome; typically expressed in males.

Gene Expression

The process by which the information encoded in a gene is translated into a protein or functional product.

Penetrance

The proportion of individuals with a specific genotype that manifest the associated phenotype.

Polymorphism

The occurrence of two or more genetically determined variants in a population.

Teratogen

An agent that causes malformation or developmental abnormalities in a fetus.

DNA

Deoxyribonucleic acid; the molecule that carries genetic information.

Chromosome

A structure composed of DNA and proteins that carries genetic information.

Somatic Cells

Non-reproductive cells in the body that contain 23 pairs of chromosomes.

Gametes

Reproductive cells (sperm and eggs) that contain half the number of chromosomes (23 total).

Fetal Alcohol Syndrome

A condition resulting from heavy alcohol consumption during pregnancy, leading to developmental issues.

Clef Lip/Cleft Palate

Congenital deformities characterized by an opening in the upper lip or roof of the mouth.

Sickle Cell Anemia

A genetic disorder characterized by the distortion of red blood cells into a sickle shape, affecting oxygen transport.

Hemophilia A

A genetic blood clotting disorder caused by the deficiency of factor VIII.

Von Willebrand Disease

A genetic disorder that affects blood clotting due to the deficiency or dysfunction of von Willebrand factor.

Gene Locus

The specific location of a gene on a chromosome.

X-linked Genes

Genes located on the X chromosome; their inheritance can affect males and females differently.