Genetics and Mutations Review

These flashcards cover key concepts from genetics, mutations, gene expression, and chromatin structure.

What is a missense mutation?

A mutation that changes one amino acid in a protein sequence.

What does a silent mutation do?

It changes the nucleotide sequence without altering the amino acid sequence.

Describe a frameshift mutation.

It results from insertions or deletions that shift the reading frame of the codons.

What is a nonsense mutation?

A mutation that introduces a premature termination codon.

What is a hypomorphic mutation?

A mutation that reduces the level of gene expression or product.

What does a hypermorphic mutation do?

It produces a greater than normal level of gene expression.

What is a null mutation?

A mutation that results in a completely nonfunctional gene product.

What is the implication of inheriting a disease-causing mutant allele from a parent?

The disease phenotype can manifest if the inherited allele is not compensated by a functional allele from the other parent.

What is the purpose of a Genome Wide Association Study (GWAS)?

To identify genetic variants associated with specific traits or diseases in a population.

How do histones influence chromatin structure?

Histones package and order DNA into nucleosomes, enabling efficient DNA compaction.

What is the genetic basis of Turner syndrome?

It results from a monosomy of the X chromosome (45,X).

What determines transcription selectivity in a cell?

Transcription factors and chromatin accessibility.

What is the role of the promoter region in a gene?

It binds transcription factors and RNA polymerase to initiate transcription.

What is RNA editing?

A process that alters nucleotide sequences in RNA, potentially changing the protein product.

How does chromatin accessibility affect gene expression?

Increased chromatin accessibility allows transcription factors to access DNA, promoting gene expression.