DNA Repair

A series of 100 vocabulary flashcards covering key terms and concepts related to DNA repair, mutations, and polymorphisms.

DNA Repair

The processes by which a cell identifies and corrects damage to its DNA.

Replication Errors

Mistakes that occur during the duplication of DNA.

Genome Stability

The maintenance of the integrity and normal function of the genome.

Proofreading

A mechanism where DNA polymerase checks and corrects errors during DNA replication.

Mismatch Repair (MMR)

A DNA repair system that corrects mismatched base pairs.

Nucleotide Excision Repair (NER)

A DNA repair mechanism that removes bulky DNA adducts or distortions.

Base Excision Repair (BER)

The DNA repair process that corrects damaged DNA by removing and replacing individual bases.

Xeroderma Pigmentosum

A hereditary condition caused by mutations in genes involved in NER, leading to increased sensitivity to UV light.

Point Mutation

A mutation where one base pair in DNA is substituted for another.

Insertion Mutation

A mutation where extra nucleotides are added into the DNA sequence.

Deletion Mutation

A mutation where nucleotides are removed from the DNA sequence.

Sickle-cell Anemia

A genetic disorder resulting from a point mutation in the hemoglobin gene.

Frameshift Mutation

A mutation that alters the reading frame of the genetic code due to insertions or deletions.

Translocation Mutation

A mutation involving the transfer of a chromosomal segment to another chromosome.

Genetic Polymorphism

Variations in DNA sequences that are common within a population.

Single Nucleotide Polymorphism (SNP)

A variation at a single base pair in a DNA sequence.

Copy Number Variation (CNV)

Variations that involve the duplication or deletion of large segments of DNA.

Natural Selection

The process where organisms better adapted to their environment tend to survive and produce more offspring.

Heterozygote Advantage

A genetic scenario where heterozygous individuals have a survival advantage.

Genomic Variant

A difference in the DNA sequence among individuals.

Evolutionary History

The sequence of changes and events that have shaped the genetic makeup of a population over time.

Human Disease Association

The correlation of specific mutations or polymorphisms with particular diseases.

Alkylating Agents

Chemicals that can add alkyl groups to DNA, potentially causing damage.

UV Irradiation

Damage caused to DNA by ultraviolet light.

Chemical Mutagens

Substances that can cause genetic mutations in DNA.

Nucleotide Adducts

Aberrant structures formed when reactive agents bond with DNA nucleotides.

Thymidine Dimers

DNA damage resulting from UV light, where two thymine bases bond incorrectly.

Abasic Site

A location in DNA where a base has been removed.

Double-Strand Break

A break that occurs simultaneously in both strands of the DNA helix.

Recombination Repair

A DNA repair mechanism that uses undamaged DNA as a template for repair.

Cell Cycle Checkpoints

Regulatory points in the cell cycle where the cell assesses whether to proceed with division.

SNP Frequency Threshold

The standard definition where an allele must occur in at least 1% of a population to be classified as a polymorphism.

Genetic Diversity

The total number of genetic characteristics in the genetic makeup of a species.

Speciation

The evolutionary process by which populations evolve to become distinct species.

Evolving Populations

Groups of organisms adapted to various environmental challenges over time.

Repair Mechanisms

Biological systems that restore the integrity of DNA after damage.

Environmental Factors

External elements such as chemicals, radiation, and UV light that can damage DNA.

Permanent Alteration

A change in the DNA sequence that is not reversible.

Genetic Variation

Differences in DNA sequences among individuals, contributing to diversity.

Histone Modifications

Changes to protein structures associated with DNA that can influence gene expression.

Pathogenic Mutation

A mutation that can lead to disease.

Plant Genetic Polymorphisms

Variations in DNA sequences within plant species that contribute to diversity.

Evolutionary Advantage

Traits that enhance survival and reproduction in specific environments.

Antitumor Agents

Drugs or compounds used to treat cancer by interfering with DNA replication.

Chromosomal Structural Mutations

Alterations in the structure of chromosomes that can affect gene function.

Therapeutic Targeting

Using knowledge of genetic mutations to develop specific treatments for diseases.

Base Pair Mismatch

An incorrect pairing of nucleotide bases during DNA replication.

Lethal Mutations

Mutations that result in the death of the organism.

Somatic Mutations

Mutations acquired by somatic cells, which do not get passed to the next generation.

Germline Mutations

Mutations that occur in reproductive cells and can be passed on to offspring.

Phenotypic Variation

Observable differences in traits among individuals due to genetic differences.

Proteomic Changes

Alterations in the proteins expressed by a cell due to changes in the underlying DNA.

Mitochondrial DNA Variants

Genetic variations found in the DNA of mitochondria which can affect metabolism.

Transcription Errors

Mistakes during the synthesis of RNA from a DNA template.

DNA Integrity

The state of being whole and undamaged in the genetic information.

Reproductive Isolation

When different species are prevented from interbreeding.

Population Bottlenecks

A sharp reduction in population size which can reduce genetic diversity.

Genetic Drift

Random changes in allele frequencies within a population.

Adaptive Radiation

The diversification of a group of organisms into new forms to adapt to different environments.

Clonal Selection

The process by which specific clones of cells with advantageous mutations become more prevalent.

Genetic Mapping

The process of determining the location of genes on a chromosome.

Bioinformatics

The use of computational tools to analyze biological data, especially genetic data.

Epigenetic Changes

Changes that affect gene expression without altering the DNA sequence.

Polyploidy

A condition in which a cell has extra sets of chromosomes.

Population Genomics

The study of genomic variation within and between populations.

Viral Mutations

Changes in the genetic material of viruses that can affect their behavior.

Somatic Cell Gene Therapy

A technique aiming to correct genetic disorders in non-reproductive cells.

Inbreeding Depression

Reduced biological fitness in a population due to inbreeding.

Maternal Genetic Effects

When the genotype of the mother influences the phenotype of her offspring.

Polygenic Traits

Traits influenced by multiple genes, contributing to phenotype complexity.

Metagenomics

The study of genetic material recovered directly from environmental samples.