Biology 2250 - Principles of Genetics

A collection of 200 vocabulary flashcards derived from the Principles of Genetics lecture notes, designed to aid in studying key concepts and terminology related to genetics.

Rhodopsin

A protein needed for vision in dim light embedded in the membranes of retinal rod cells.

Gene

A protein-encoding segment of DNA with a discrete chromosomal location.

Chromosome 3

The human chromosome that contains the gene for rhodopsin.

Retinitis Pigmentosa

A disease caused by mutations in the rhodopsin gene leading to vision defects.

Night blindness

A condition also resulting from mutations in the rhodopsin gene that affects vision in low light.

Drosophila

A genus of small flies commonly used in genetic research, especially for studying mutations.

Complementation Testing

A method used to determine if two mutations are in the same gene or in different genes.

Phenotype

The observable characteristics or traits of an organism, influenced by its genotype.

Alleles

Different forms of a gene that can exist at a specific locus.

Heterozygote

An individual having two different alleles for a particular gene.

Complementation Group

A group of mutations that do not complement each other, indicating they are within the same gene.

Gene Mapping

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

S. Benzer

A scientist known for his work on recombination analysis in genetic mapping.

Quantitative Variations

Types of mutations that can lead to a variety of phenotypes.

Molecular Product

The biological molecules (such as proteins) produced as a result of gene expression.

Transcription

The process of synthesizing RNA from a DNA template.

Translation

The process where ribosomes synthesize proteins using the information encoded in mRNA.

Polymerase Chain Reaction (PCR)

A method used to amplify specific DNA sequences.

Exons

The coding regions of a gene that are expressed as proteins.

Introns

Non-coding regions of a gene that are removed during RNA processing.

RNA Splicing

The editing of RNA transcripts to remove introns and combine exons.

Gene Expression

The process by which the information in a gene is used to synthesize a functional gene product.

Amino Acids

The building blocks of proteins, specified by the genetic code.

Codon

A sequence of three nucleotides that codes for a specific amino acid.

Stop Codon

A codon that signals the termination of protein synthesis.

Recombinant DNA

DNA that has been formed artificially by combining constituents from different organisms.

Restriction Enzymes

Proteins that cut DNA at specific sequences.

Cloning Vectors

DNA molecules used to carry foreign DNA into a host cell.

Bioinformatics

The application of computer technology to the management of biological information.

Metagenomics

The study of genetic material recovered directly from environmental samples.

Whole Exome Sequencing (WES)

A technique to sequence all the coding regions of genes in a genome.

Nonsense Mutation

A mutation that introduces a premature stop codon in a gene sequence.

Missense Mutation

A mutation that changes one amino acid in a protein.

Frameshift Mutation

A mutation caused by insertions or deletions of nucleotides that change the reading frame.

Loss-of-function Mutation

A mutation that results in reduced or abolished protein function.

Gain-of-function Mutation

A mutation that enhances the function of a gene product.

Gene Therapy

A treatment that involves modifying or manipulating genes to treat disease.

Antibiotic Resistance

The ability of bacteria to survive and grow in the presence of antibiotic drugs.

Ploidy

The number of sets of chromosomes in a cell.

Aneuploidy

An abnormal number of chromosomes in a cell, not an exact multiple of the haploid number.

Euploidy

The condition of having one or more complete sets of chromosomes.

Polyploidy

The presence of more than two sets of chromosomes.

Transgenic Organism

An organism that contains a gene or genes which have been artificially inserted.

Transposable Elements (TEs)

Segments of DNA that can move around within a genome.

Heterochromatin

A tightly packed form of DNA which is transcriptionally inactive.

Euchromatin

A less condensed form of chromatin that is actively transcribed.

Karyotype

The number and appearance of chromosomes in the nucleus of a eukaryotic cell.

Gene Knockout

A genetic technique used to inactivate or 'knockout' a gene.

Genome Annotation

The process of identifying and marking the locations of genes and other features in a genome.

SNP (Single Nucleotide Polymorphism)

A variation at a single nucleotide position in a DNA sequence among individuals.

CRISPR-Cas9

A gene-editing technology that allows for precise modifications to DNA.

Locus

The specific physical location of a gene or DNA sequence on a chromosome.

Cis-regulatory elements

Regions of non-coding DNA which regulate the transcription of nearby genes.

Trans-regulatory elements

Molecules (such as proteins) that regulate genes at different locations in the genome.

Phenotypic Variation

Differences in appearance or function that arise from genetic and environmental influences.

Homologous Chromosomes

Chromosomes that have the same sequence of genes and the same structure.

Diploid

A cell or organism that has two sets of chromosomes, one from each parent.

Crossing Over

The exchange of genetic material between homologous chromosomes during meiosis.

Gene Flow

The transfer of genetic variation from one population to another.

Transcription Factor

A protein that controls the rate of transcription of genetic information from DNA to messenger RNA.

Mendelian Inheritance

Patterns of inheritance that are characteristic of organisms that reproduce sexually.

Genetic Drift

The fluctuation of allele frequencies due to random sampling.

Selective Pressure

Environmental factors that influence which individuals will reproduce.

Genetic Mapping

Determining the relative positions of genes on a chromosome.

Mitosis

The process by which a cell divides to form two identical daughter cells.

Meiosis

A type of cell division that reduces the chromosome number by half, resulting in gametes.

Oligonucleotide

A short sequence of nucleotides used in DNA and RNA synthesis.

DNA Ligase

An enzyme that facilitates the joining of DNA strands together by catalyzing the formation of phosphodiester bonds.

Codon Optimization

The process of improving protein yields by altering codon usage.

Chromosomal Abnormalities

A deviation from normal chromosome number or structure.

Silent Mutation

A mutation that does not change the amino acid sequence of a protein.

Splicing Mutations

Mutations that affect the splicing of introns and exons in RNA.

Dominant Negative Mutations

Mutations that produce a gene product that not only loses normal function but also inhibits the function of the wild-type allele.

Mitochondrial DNA

The DNA located in mitochondria, inherited maternally.

Epigenetics

The study of heritable changes in gene expression that do not involve changes to the underlying DNA sequence.

Bioluminescence

The production and emission of light by living organisms.

Antibiotic Susceptibility Testing

A clinical laboratory test used to determine the effectiveness of antibiotics on bacteria.

Biosynthetic Pathways

Series of chemical reactions in living organisms that lead to the production of complex molecules.

Natural Selection

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

Genome-Wide Association Studies (GWAS)

Studies that look for non-random associations between genetic variants and traits.

Human Genome Project

A global collaboration to sequence and map all the genes of the human species.

Phenotypic Assay

A process to assess the traits exhibited by an organism.

Biotechnology

The use of living systems and organisms to develop or create products.

Clinical Genetics

A branch of medicine that focuses on the diagnosis and management of hereditary disorders.

Synthetic Biology

An interdisciplinary branch involving the design and construction of new biological parts.

Genetic Engineering

The direct manipulation of an organism's genes using biotechnology.

Cold Shock Response

A cellular response to a decrease in temperature that enhances the expression of cold-shock proteins.

Aromatic Compounds

Organic compounds that contain one or more benzene rings.

Biomarkers

Biological molecules that indicate a biological state, often used in disease diagnosis.

Nucleic Acid Hybridization

A process that forms a double-stranded molecule from two complementary nucleic acid sequences.

Gene Signature

A group of genes whose combined expression pattern is uniquely characteristic of a particular biological condition.

Aneuploidy Detection

Methods used to identify abnormal chromosome numbers within an organism.

Risks of Genetic Modification

Potential negative effects that genetic modification could impose on organisms and ecosystems.

Ecosystem Services

The benefits that humans derive from ecosystems.

Proteomics

The large-scale study of proteins, particularly their functions and structures.

Cellular Senescence

The process by which cells irreversibly stop dividing and enter a state of permanent growth arrest.

Molecular Cloning

The process of making multiple identical copies of a piece of DNA.

Heritability

The proportion of observed variation in a trait that can be attributed to inherited genetic factors.

Transgenic Animals

Animals that have had a foreign gene deliberately inserted into their genome.

Chimeric Antigen Receptor (CAR) T-Cell Therapy

A type of immunotherapy that uses specially altered T cells to more effectively recognize and attack cancer cells.