Genomics and Mutations

These flashcards cover key terms and concepts in genomics, mutations, and associated biological processes.

Comparative Genomics

Compares genomes across species to understand evolutionary relationships.

Functional Genomics

Analyzes gene functions and interactions, often using high-throughput methods.

Bioinformatics

Applies computational tools to analyze genome data including gene prediction and annotation.

Traditional WGS

Involves cloning DNA fragments into plasmids, amplifying in bacteria, and sequencing.

Next-Gen WGS

Uses PCR and parallel sequencing of millions of DNA fragments; faster and cheaper.

Paired-End Reads

Short sequences from both ends of DNA inserts used to close gaps in genome assemblies.

Annotation

Identification of functional elements in the genome including genes and regulatory sequences.

Exome Sequencing

Targets and sequences only the exon regions, used in diagnostics and personalized medicine.

Transcriptome

All RNA molecules transcribed from the genome.

RNA-seq

Technique to measure gene expression by sequencing RNA transcripts.

Yeast Two-Hybrid

Assay to detect protein-protein interactions.

ChIP

Chromatin immunoprecipitation, used to study DNA-protein interactions in the context of chromatin.

Point Mutation

A single nucleotide change including base substitution or indel.

Transition vs Transversion

Transition: purine-purine or pyrimidine-pyrimidine; Transversion: purine-pyrimidine.

Silent Mutation

Does not change the amino acid.

Missense Mutation

Changes the amino acid (can be conservative or nonconservative).

Nonsense Mutation

Introduces a premature stop codon.

Frameshift Mutation

Shift in reading frame caused by indels not in multiples of 3.

Luria-Delbrück Test

Showed mutations occur randomly, not in response to selection.

Replication Slippage

Occurs in repeated sequences; leads to indels.

Depurination

Loss of purine base, leading to apurinic sites.

Deamination

Loss of an amine group; e.g., cytosine to uracil.

Base Analog

Chemical similar to bases that can be misincorporated.

Intercalating Agent

Molecules that insert into DNA and cause frameshift mutations.

UV Damage

Forms thymine dimers that block replication.

DNA Repair Mechanisms

Includes direct repair, base/nucleotide excision, mismatch repair, homologous recombination.

Euploid

Organism with a complete set of chromosomes (e.g., diploid, triploid).

Aneuploid

Organism with abnormal chromosome number (e.g., monosomy, trisomy).

Autopolyploidy

Multiple chromosome sets from the same species.

Allopolyploidy

Chromosome sets from different species.

Nondisjunction

Failure of chromosomes to separate during meiosis or mitosis.

Deletion

Loss of chromosomal segment; can cause gene imbalance.

Duplication

Gain of chromosomal segment; can generate new gene functions.

Inversion

Reversal of chromosomal segment; can reduce recombination.

Translocation

Exchange of segments between nonhomologous chromosomes.

Dosage Compensation

Mechanism to equalize gene expression of sex chromosomes.

Raphanobrassica

Example of allopolyploid plant formed from radish and cabbage.

Trisomy 21

Down syndrome; result of nondisjunction.

Chromosome Rearrangements and Cancer

Can activate oncogenes by altering gene regulation.