Genetic Mutations and Disorders

A comprehensive set of vocabulary flashcards covering key concepts related to mutations, genetic disorders, and their effects on organisms.

Mutation

Any mistake or change in the DNA sequence.

Point mutation

Change in one nitrogen base in DNA.

Albinism

An example of a point mutation.

Mutations and protein function

Mutations change protein structure and function by altering the DNA sequence.

Frameshift mutation

A major change in the genetic sequence that alters the reading frame.

Missense mutation

A mutation that results in the substitution of one amino acid for another.

Gene mutation

Occurs when the nucleotide sequence of the DNA is altered.

Spontaneous mutation

A mutation that occurs as a result of natural processes in cells.

Induced mutation

Occurs due to interaction with an external agent or mutagen.

Mutagen

An agent that causes changes in DNA.

Auxotrophs

Organisms with mutations that leave an essential nutrient process dysfunctional.

Resistant mutants

Organisms that can withstand exposure to inhibitory molecules due to mutations.

Regulatory mutants

Have disruptions on regulatory sequences like promoter regions.

Constitutive mutants

Continuously express genes that usually switch on and off.

Genetic variation

Mutations are a major source of genetic variation that drives evolutionary change.

Silent mutation

A nucleotide substitution that does not change the amino acid sequence.

Missense mutation

A nucleotide substitution resulting in a changed amino acid.

Nonsense mutation

Creates a new stop codon, leading to premature termination of protein synthesis.

Translocations

A chromosomal mutation involving the movement of a chromosome fragment to a nonhomologous chromosome.

Nondisjunction

Failure of chromosome pairs to separate properly during meiosis.

Monosomy

When a gamete has one less chromosome than it should.

Trisomy

When a gamete has one more chromosome than it should.

Down's Syndrome

A trisomy disorder caused by an extra copy of chromosome 21.

Patau's Syndrome

A severe condition caused by trisomy 13.

Edward's Syndrome

A severe condition caused by trisomy 18.

Amniocentesis

A method to obtain fluid surrounding the fetus for testing.

Ultrasound

A technique using sound waves to generate an image of the unborn child.

Angelman Syndrome

Deletion disorder characterized by inappropriate laughter and convulsions.

Prader-Willi Syndrome

Deletion disorder marked by extreme floppy muscles and obesity.

Klinefelter’s Syndrome

A sex chromosome disorder with a genetic pattern of 47, XXY.

Turner’s Syndrome

A sex chromosome disorder where there is a missing sex chromosome (45, X).

Fragile X Syndrome

The most common inherited cause of mental retardation associated with a gap in the X chromosome.

Cystic Fibrosis

A recessive disorder characterized by thick mucus and bacterial lung infections.

Hemophilia

A sex-linked disorder resulting in the failure of blood to clot.

Sickle Cell Anemia

A mutation in blood protein causing red blood cells to have a sickle shape.

Phenylketonuria (PKU)

A disorder caused by a mutation that disrupts the function of an enzyme.

Screening newborns

Conducted to check for PKU through a heel prick.

HF Treatment

Injections with clotting factors are used to manage hemophilia.

Sweat test

A diagnostic test used for cystic fibrosis.

Molecular biology

Field of science where mutant organisms are used for characterizing genes.

Evolutionary change

Driven by genetic mutations providing variation in traits.

Deletion

Loss of genetic material from a chromosome.

Duplication

Replication of a portion of genetic material.

Inversion

Reversal of a segment within a chromosome.

Crossing Over

Occurs during meiosis when homologous chromosomes exchange genetic material.