Introduction to Cytogenetics

Vocabulary flashcards related to the key terms and concepts in cytogenetics, including definitions and descriptions for important terminology.

A branch of biology dealing with the structure, function, multiplication, pathology, and life history of cells.

Cytology

A branch of biology concerned with the study of inheritance, including the interplay of genes, DNA variation, and their interactions with environmental factors.

Genetics

The relationship between the transmission of genes from parent to offspring and the outcome of the offspring’s traits.

Transmission Genetics

The field aimed at understanding how genetic material works at the molecular level.

Molecular Genetics

A field that studies genetic variation and how it relates to an organism's environment.

Population Genetics

A long thread-like structure in the cell nucleus that carries genetic information.

Chromosome

A specific segment of DNA that contains instructions for building a particular protein or RNA molecule.

Gene

A specific variant of a gene that may differ in its DNA sequence, causing different traits.

Allele

A complete set of chromosomes of an individual usually arranged in pairs according to their size and shape.

Karyotype

A visual representation or photograph of an individual’s karyotype, displaying the chromosomes.

Karyogram

Chromosomes other than the sex chromosomes (X and Y).

Autosomes

Chromosomes (X and Y) that determine an individual’s sex and carry genes related to sexual development.

Sex Chromosomes

Chromosome pairs with similar size, shape, and genetic content.

Homologous Chromosome

A specific physical location of a gene on a chromosome.

Locus (Loci)

Cells or organisms that have 2 sets of chromosomes in their nucleus.

Diploid

Cells or organisms that have 1 complete set of chromosomes in their nucleus.

Haploid

Combining genetic material from 2 different individuals to create offspring with a mix of genetic characteristics.

Hybridization

The original individuals whose genetic traits are being studied in a breeding experiment.

P (Parental Generation)

The immediate offspring resulting from the crossbreeding of 2 parental individuals.

F1 (First Filial Generation)

Offspring produced by crossing 2 F_1 individuals.

F2 (Second Filial Generation)

The observable physical and functional characteristics of an organism.

Phenotype

The genetic makeup of an organism, representing the combination of alleles at specific gene loci.

Genotype

An allele that masks the effect of a recessive allele in a heterozygous individual.

Dominant Allele

An allele whose effect is masked by the dominant allele in a heterozygous individual.

Recessive Allele

Alleles that are both expressed in the phenotype in a heterozygous individual.

Codominant Allele

Chromosomes that have the same alleles at a specific gene locus.

Homozygous Chromosome

Chromosomes that have different alleles at a specific gene locus.

Heterozygous Chromosome

The presence of only 1 allele at a gene locus in a diploid organism.

Hemizygous Chromosome

A permanent change in the DNA sequence of a gene or chromosome.

Mutation

The theory that hereditary factors are transferred through germ plasm, not somatic cells.

Germ Theory

Observed by H. Fol in 1879, discovered directly by O. Hertwig.

Fertilization in Animals

Discovered by Sir William Henry Bragg and his son, used to study molecular structure.

X-rays

Term used by Wilhelm Johannsen in 1909 to describe the carrier of heredity.

Gene

Material that carries genetic information, proven to be DNA by Oswald Avery and colleagues.

Genetic Material

A type of cell division resulting in 2 daughter cells with identical genetic material.

Mitosis

A special type of cell division that reduces chromosome number by half.

Meiosis

The division of the nucleus during cell division.

Karyokinesis

The division of the cytoplasm during the cell division process.

Cytokinesis

The phase in the cell cycle where the cell prepares for division.

Interphase

The first stage of cell division where chromosomes become visible.

Prophase

The stage where chromosomes align at the center of the cell.

Metaphase

The stage where sister chromatids are pulled towards opposite poles.

Anaphase

The final stage of mitosis where the nuclear membrane reappears.

Telophase

Resting stage of the cell cycle where the cell is non-dividing.

Gap 0 (G_0)

Growth phase of the cell cycle where the cell prepares for DNA replication.

Gap 1 (G_1)

The phase of the cell cycle where DNA replication occurs.

Synthesis (S)

The phase where the cell prepares for mitosis.

Gap 2 (G_2)

Prophase I stage in meiosis where homologous chromosomes pair up.

Zygotene

Prophase I stage in meiosis where crossing over occurs.

Pachytene

Second meiotic phase where chromosomes align at the center again during meiosis.

Metaphase II

One of the 2 identical halves of a duplicated chromosome.

Chromatid

The region of the chromosome where sister chromatids are joined.

Centromere

The points where homologous chromosomes exchange genetic material during crossing over.

Chiasmata

The set of rules by which information encoded in genetic material is translated.

Genetic Code

Technique used to amplify DNA segments.

Polymerase Chain Reaction (PCR)

International scientific research project aimed at mapping and understanding all the genes of the human species.

Human Genome Project

A genetic disorder that affects the lungs and digestive system, treated with gene therapy.

Cystic Fibrosis

Cells that have a nucleus and organelles enclosed by membranes.

Eukaryotic Cells

Cells that lack a nucleus and membrane-bound organelles.

Prokaryotic Cells

Specialized structures within a cell that perform specific functions.

Organelles

The organelle that contains the cell's hereditary information and controls its growth and reproduction.

Nucleus

Proteins that help package DNA into structural units called nucleosomes.

Histones

Cytoskeletal filaments involved in maintaining cell structure and facilitating transport.

Microtubules

Cylindrical organelles involved in cell division.

Centrioles

Organelles known as the powerhouse of the cell, generating ATP.

Mitochondria

An organelle involved in protein and lipid synthesis.

Endoplasmic Reticulum

Organelles that contain enzymes to digest cellular waste.

Lysosomes

An organelle involved in modifying, sorting, and packaging proteins.

Golgi Complex

The living content of a cell that is surrounded by a plasma membrane.

Protoplasmic Substance

The series of events that take place in a cell leading to its division and duplication.

Cell Cycle

Organelles in plant cells that conduct photosynthesis.

Chloroplasts

Reproductive cells (sperm and egg) that are haploid.

Gametes

Environmental factors that influence which organisms survive and reproduce.

Selection Pressure

The variety of life in the world or in a particular habitat.

Biodiversity

The ability of an organism to change its phenotype in response to environmental changes.

Phenotypic Plasticity

A technique that uses genes to treat or prevent disease.

Gene Therapy

Random fluctuations in allele frequencies in a population.

Genetic Drift

The process by which organisms better adapted to their environment tend to survive and reproduce.

Natural Selection

The number of sets of chromosomes in a cell.

Ploidy

Mating between closely related individuals leading to an increase in homozygosity.

Inbreeding

The phenomenon where hybrid offspring exhibit superior qualities compared to their parents.

Hybrid Vigor

A genetic variant or subtype of a microorganism.

Strain