Analyzing Genetic Variation

A comprehensive set of vocabulary flashcards covering key concepts in genetic variation and related topics.

Genome

The complete set of genetic material in an organism.

Single Nucleotide Polymorphism (SNP)

A DNA sequence variation occurring when a single nucleotide in the genome is altered.

Allele

A variant form of a gene at a particular locus.

Polymorphism

The presence of two or more variants (alleles) at a locus in a population.

Insertions

DNA segments that are added into a specific locus.

Deletions

Loss of a segment of DNA from a locus.

Indel

A general term for insertion or deletion mutations.

Haploid Genome

The complete set of chromosomes in a gamete, containing one copy of each chromosome.

Copy Number Variants (CNVs)

Large segments of DNA that are duplicated or deleted.

Trinucleotide Repeat Disorders

Genetic disorders caused by the expansion of repeats of three nucleotides.

Huntington's Disease

An autosomal dominant neurodegenerative disorder caused by CAG repeats in the HTT gene.

Fragile X Syndrome

An X-linked genetic disorder characterized by intellectual disability and caused by CGG repeat expansions.

Phenotype

The observable physical or biochemical characteristics of an organism.

Genotyping

The process of determining the genetic constitution at specific loci.

PCR (Polymerase Chain Reaction)

A technique used to amplify segments of DNA.

SNP Array

A high-throughput method for detecting SNPs across the genome.

Taqman Assay

A method for genotyping that uses fluorescent probes to detect SNPs.

Molecular Muzzle

A gene therapy approach that uses microRNA to suppress mutant gene expression.

Neurofibromatosis

A genetic disorder causing tumors to grow in the nervous system.

Allelic Heterogeneity

The phenomenon where different mutations in a single gene can produce the same phenotype.

Regulatory Regions

Non-coding regions in DNA that regulate gene expression.

Splicing Mutations

Mutations that affect the splicing of mRNA during transcription.

DNA Fingerprinting

A technique used to identify individuals based on their unique DNA profiles.

CRISPR Technology

A gene-editing technology that allows for precise alterations in the genome.

Linkage Analysis

A genetic mapping technique used to determine the distance between loci on chromosomes.

Targeted Genotyping

The detection of polymorphisms in specific regions of the genome.

High Throughput Genotyping

Simultaneous analysis of many loci for genetic variations across the genome.

Nucleotides

The basic building blocks of DNA and RNA.

Mutation Rate

The frequency at which mutations occur in a given DNA segment.

Natural Selection

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

MicroRNA

Small non-coding RNA molecules that regulate gene expression.

Exome Sequencing

A method for sequencing all the protein-coding regions in a genome.

Gene Therapy

A treatment that involves altering the genes inside the body's cells to stop disease.

Clinical Trial

A research study to test how well new medical approaches work in people.

Transcription Regulation

The control of the rate of transcription of genetic information from DNA to mRNA.

Transgenic Organisms

Organisms that have been genetically modified to contain DNA from other species.

Population Genetics

The study of genetic variation within populations, and involves the examination of allele frequency distribution.

Synthetic Biology

An interdisciplinary branch of biology and engineering that involves redesigning organisms for useful purposes.

Bioinformatics

The application of computational tools to analyze biological data.

Phenocopy

A phenomenon where a non-genetic change mimics the phenotype of a genetic trait.

Autosomal Dominant

A pattern of inheritance where only one copy of a mutated gene is sufficient to cause the disorder.

Autosomal Recessive

A pattern of inheritance where two copies of a mutated gene must be present for the disorder to develop.

Quantitative Traits

Traits that are controlled by multiple genes and often show continuous variation.

Linkage Disequilibrium

A non-random association of alleles at different loci.

Gene Mapping

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

Phenotype-Genotype Correlation

The relationship between the genetic makeup (genotype) and the observable traits (phenotype) of an organism.