Analyzing Genetic Variation

A collection of vocabulary flashcards to review key concepts related to genetic variation, mutations, and modern genetics.

Genetic Variation

Differences in DNA sequences among individuals.

Genome

The complete set of genes or genetic material present in a cell or organism.

Single Nucleotide Polymorphisms (SNPs)

A variation in a single nucleotide that occurs at a specific position in the genome.

Allele

A variant form of a gene.

Biallelic

Referring to a locus that has two different alleles.

Common SNPs

SNPs that have an allele frequency of at least 1%.

Mutation Rate

The frequency at which mutations occur in a given gene or organism.

Insertion-Deletion Polymorphisms (INDELs)

Variations that involve the insertion or deletion of small segments of DNA.

Simple Sequence Repeats (SSRs)

Short sequences of DNA that are repeated in tandem.

Trinucleotide Repeat

A sequence of three nucleotides that is repeated multiple times.

CAG Repeat

A specific trinucleotide repeat found in the HTT gene associated with Huntington's disease.

Penetrance

The proportion of individuals with a particular genotype that actually express the phenotype associated with that genotype.

Fragile X Syndrome

An X-linked genetic condition causing intellectual disability due to mutations in the FMR-1 gene.

Huntington's Disease

A neurodegenerative disorder caused by genetic mutations leading to brain cell death.

MicroRNA

Small non-coding RNA molecules that regulate gene expression.

Gene Therapy

Corrective treatment involving the introduction of genetic material into a person's cells to treat or prevent disease.

Copy Number Variants (CNVs)

Large segments of the genome that can vary in copy number among individuals.

Linkage Analysis

A genetic method that studies the co-segregation of genetic markers with phenotypes in families.

Targeted Genotyping

A method used to detect polymorphisms in specific regions of the genome.

High Throughput Genotyping

A method allowing for the simultaneous genotyping of thousands of DNA variants.

PCR (Polymerase Chain Reaction)

A technique used to amplify specific DNA sequences.

TaqMan Assays

A type of quantitative PCR that uses fluorescent probes to detect specific SNPs.

SNP Microarrays

A high-throughput method for genotyping multiple SNPs at once.

Affymetrix SNP Array

A high-density microarray platform used for SNP analysis.

Allele-Specific Probes

Oligonucleotides designed to bind specifically to either of two alleles.

DNA Fingerprinting

A method used to identify individuals based on unique patterns in their DNA.

CODIS

The FBI’s Combined DNA Index System used for matching DNA profiles.

Prenatal Genetic Diagnosis

Testing to determine if a fetus has genetic abnormalities.

Gene-Targeted Therapy

A treatment designed to target specific genes or their products to alleviate disease.

Molecular Mismatch

A base-pair difference between a probe and its target sequence.

Frameshift Mutation

A genetic mutation caused by insertions or deletions that shift the reading frame.

Exon

A segment of a gene that is retained in the final mature mRNA.

Allelic Heterogeneity

Different mutations in the same gene that can cause the same phenotype.

Disease Alleles

Specific alleles that are associated with disease.

Inheritance Pattern

How a genetic trait or mutation is passed from parents to offspring.

Evolutionary Conservation

The preservation of DNA sequences or protein functions across different species.

Neurofibromatosis

A genetic disorder characterized by the formation of tumors on nerve tissue.

Homozygous

Having two identical alleles for a particular gene.

Recombinant Types

Gametes that have different combinations of alleles than the parents.

Pedigree Analysis

A diagrammatic method used to trace the inheritance of a trait through generations.

Polymorphism

The occurrence of two or more different alleles at a locus in a population.

Detection of Polymorphisms

Methods used to identify variations in DNA sequences among individuals.

Statistical Analysis in Genetics

Using statistical tools to assess and interpret genetic data.

Genotype-Phenotype Association

The relationship between the genetic makeup of an individual and their observable traits.

Base Pair Change

A mutation involving the alteration of one nucleotide in the DNA sequence.

Mutation Types

Various forms of genetic mutations, including missense and nonsense mutations.

Linkage Disequilibrium

Non-random association of alleles at two or more loci.

Medical Genetics

The branch of medicine that involves the diagnosis and management of hereditary disorders.

Gene Mapping

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

Reactive Oxygen Species

Chemically reactive molecules containing oxygen that can lead to cellular damage.

Gene-Editing Technologies

Techniques, such as CRISPR, used to modify an organism's DNA.

Sequence Conservation

The preservation of a DNA or protein sequence across different species.

Inclusion-Exclusion Principle

A probability principle used for calculating the likelihood of overlapping events.

Sickle Cell Anemia

A genetic disorder caused by a mutation in the hemoglobin gene.

Gene Duplication

A process where a segment of DNA is duplicated, resulting in multiple copies.

Genomic Imprinting

A genetic phenomenon by which certain genes are expressed in a parent-of-origin-specific manner.

DNA Repair Mechanisms

Cellular processes that identify and correct damage to the DNA.

Hereditary Cancer Syndromes

Genetic conditions that increase the risk of certain types of cancer.