Genetic Mutations and Disorders

This set of flashcards covers key terms and definitions related to genetic mutations and disorders as discussed in the lecture notes.

Genetic Mutation

A change in the nucleotide sequence of DNA that can affect protein synthesis.

Point Mutation

A mutation in which a single base is changed, causing substitution or frameshift.

Substitution Mutation

A type of point mutation where one DNA base is swapped for another.

Frameshift Mutation

A mutation caused by insertion or deletion of bases, shifting the entire codon reading frame.

Nonsense Mutation

A substitution mutation that results in a premature STOP codon.

Missense Mutation

A substitution mutation that results in a different amino acid being produced.

Silent Mutation

A mutation where one DNA base is changed but does not change the resulting amino acid.

Chromosomal Mutations

Alterations that affect entire segments of a chromosome, including inversion, translocation, deletion, and duplication.

Inversion Mutation

A chromosomal mutation where a segment of the chromosome is rotated or flipped.

Translocation Mutation

A mutation where a segment of one chromosome breaks off and attaches to another chromosome.

Deletion Mutation

A mutation involving the removal of part of a chromosome.

Duplication Mutation

A mutation where a segment of a chromosome is repeated.

Sickle-Cell Anemia

A recessive genetic disorder caused by a missense mutation affecting hemoglobin, resulting in abnormally shaped red blood cells.

Hemophilia

A blood disorder caused by a recessive gene on the X chromosome, leading to inability to produce a blood clotting protein.

Tay-Sachs Disease

A fatal recessive genetic disorder characterized by the absence of an enzyme for lipid breakdown in the brain.

Cystic Fibrosis

The most common genetic disorder, caused by a recessive gene, resulting in thick mucus production affecting lungs and digestion.

Down Syndrome

Also called trisomy 21, caused by an extra chromosome 21, leading to developmental delays and physical abnormalities.

Klinefelter’s Syndrome

A condition in males characterized by an extra X chromosome, resulting in feminine characteristics and sterility.

Turner's Syndrome

A condition affecting females characterized by the absence of one X chromosome, leading to underdevelopment and sterility.