Genetic Disorders and Mutations

These flashcards cover key concepts related to genetic disorders, mutations, and associated diseases.

Genetic Disorders

Diseases caused in whole or in part by a change in the DNA sequence.

Monogenic

A genetic disorder caused by a mutation in a single gene.

Multifactorial inheritance disorder

A genetic disorder caused by mutations in multiple genes.

Inheritance of mutations

Disease-causing mutations can be inherited from parents or acquired throughout a lifetime.

Sickle cell disease

An example of a genetic disorder caused by a mutation.

Mutation

A change in the genetic code (nitrogen base sequence of DNA).

Point mutation

Addition, deletion, or substitution of a few bases in the DNA sequence.

Missense mutation

A mutation that causes a change in a single amino acid.

Nonsense mutation

A mutation that changes a normal codon into a stop codon.

Silent mutation

A mutation that alters a base but does not change the amino acid.

Frameshift mutation

When the reading frame of mRNA is altered due to insertion or deletion of bases.

DNA polymerase

An enzyme that proofreads nucleotides during DNA replication.

Mismatch repair

The process that locates and repairs mismatched nitrogen bases not corrected by DNA polymerase.

Excision repair

A repair mechanism that removes a segment of DNA and adds the correct nucleotides.

Cystic Fibrosis (CF)

A fatal genetic disease caused by mutations in the CFTR gene, leading to thick, sticky mucus.

Huntington’s Disease

An inherited neurological disease caused by a mutated gene on chromosome 4, leading to involuntary movements.

Hemophilia A

A genetic disorder causing longer bleeding and easy bruising, caused by mutations in the FVIII gene.

Down syndrome

A chromosomal condition characterized by three copies of chromosome 21, causing various health issues.