Genetics, Prenatal Assessment, and Development Flashcards

Comprehensive vocabulary flashcards covering basic genetics, chromosomal and genetic abnormalities, prenatal assessment methods, gene-environment interactions, and reproduction terminology.

Genetics

The scientific branch within the field of biology that studies heredity.

Heredity

The biological process involving the transmission of traits and characteristics from one generation to the next.

DNA

Deoxyribonucleic acid; a molecule composed of phosphate, sugars, and base pairs that carries chemical markers used by the body to build proteins.

Gene

A long chunk or slice of DNA that contains the chemical code for a specific trait and serves as the basic unit of inheritance.

Chromosome

A long strand structure built out of DNA wrapped around histone proteins, containing many genes; humans possess $46$ arranged in $23$ pairs.

Monogenic

A trait that is determined or controlled by a single pair of genes, such as human blood type.

Polygenic

A trait that results from the combined action of multiple sets or pairs of genes working together.

Nucleotides

Base pair molecules arranged along the sugar backbone of DNA, consisting of four types: adenine, thymine, cytosine, and guanine.

Acetylation

A process controlling the unwinding of DNA from histone proteins to enable the production of proteins.

Mitosis

A form of cell division where a cell divides into two daughter cells containing identical genetic information.

Mutation

A variation occurring during cell division that alters a heritable characteristic.

Meiosis

A specialized form of cell division where each resulting daughter cell receives only half a set of chromosomes.

Monozygotic Twins

Identical twins formed when a single fertilized zygote splits during initial cell division to form two separate individuals with identical DNA.

Dizygotic Twins

Fraternal twins formed when two separate ova are fertilized by two separate sperm at the same time.

Allele

A specific variation of a gene that serves a specific function, typically operating in pairs to express a trait.

Genotype

The total genetic capability or maximum potential set of characteristics contained within an individual's or species' genetic code.

Phenotype

The observable characteristics that are actually expressed in an individual.

Multifactorial

Influenced by a combination of multiple genetic, physiological, and environmental factors.

Chromosomal Disorder

An abnormality in the structure or overall set of chromosomes caused by heredity, environmental influences, or chance.

Down Syndrome

A chromosomal disorder caused by an extra chromosome at pair $21$, resulting in $47$ total chromosomes.

X Y Y Syndrome

A trisomy condition in males characterized by an extra Y chromosome, leading to heightened secondary male sex characteristics, tall stature, severe acne, and delayed language development.

Klinefelter Syndrome

A trisomy condition in males caused by an extra X chromosome ($XXY$), leading to reduced testosterone levels, inadequate development of sex characteristics, and potential infertility.

Turner Syndrome

A sex-linked chromosomal abnormality where females have only one X chromosome, leading to poorly developed ovaries and potential infertility.

Color Blindness

A sex-linked recessive genetic defect carried on the X chromosome that impairs the ability to distinguish between specific colors, such as red and green.

Phenylketonuria (PKU)

A recessive genetic disorder causing a buildup of the amino acid phenylalanine in the nervous system, leading to intellectual disabilities.

Sickle Cell Anemia

A recessive genetic disorder that reduces the surface area of red blood cells, lowering the blood's capacity to carry oxygen.

Tay-Sachs Disease

A fatal recessive genetic disorder that causes progressive degeneration of the nervous system.

Cystic Fibrosis

A fatal recessive genetic disorder causing excessive mucus that obstructs the lungs and pancreas.

Huntington's Disease

A fatal dominant genetic neurological disorder that typically manifests during middle age.

Tourette's Syndrome

A dominant genetic disorder characterized by uncontrollable repetitive movements and unwanted vocal sounds known as tics.

Somatic Mutation

A mutation occurring in body cells during standard cell division (mitosis) at any point during an individual's life.

Germline Mutation

A mutation occurring in cells that undergo meiosis to form sex cells (gametes), allowing the mutation to be transmitted to offspring.

Amniocentesis

A prenatal test sampling amniotic fluid to detect genetic and chromosomal abnormalities as well as indicate fetal sex.

Chorionic Villus Sampling (CVS)

A prenatal test sampling tissue from the placenta to detect genetic abnormalities, often recommended for pregnant mothers over age $35$.

Ultrasound

A prenatal diagnostic technique using sound waves to inspect fetal physical structure, size, weight, and heart rate.

Piezoelectric Crystals

Crystals located inside an ultrasound transducer that vibrate under electrical signals to generate high-frequency sound waves and convert returning sound echoes back into electrical images.

Behavioral Genetics

The research field examining the interplay between environmental factors and underlying genetic factors in behavior and physical traits.

Canalization

The measure of a population's ability to express roughly the same phenotype despite environmental or genetic variability, such as the sequence of motor development.

Passive Correlation

A gene-environment relationship where children inherit genes and are exposed to home environments provided by parents sharing those same genetic tendencies.

Evocative Correlation

A gene-environment correlation where a child's inherited genetic traits elicit specific responses from their environment or caregivers.

Active Correlation

A gene-environment correlation where individuals actively choose and seek out environments that match and support their genetic tendencies.

Epigenetics

The study of DNA modifications affecting gene expression that can be passed on without altering the fundamental DNA sequence.

Heritability

The research field or measure evaluating how much a specific characteristic is related specifically to genetic or inherited factors.

Endometriosis

A female reproductive condition where uterine cells grow outside the uterus into other tissues, causing obstructions, infections, and potential fertility complications.

Pelvic Inflammatory Disease

An infection affecting the upper female reproductive system that can create severe reproductive complications if not treated.

In Vitro Fertilization (IVF)

A procedure where an embryo is created in a test tube or laboratory setting and subsequently implanted into the uterus.

Ovum

A female reproductive egg cell released from an ovary roughly once every $28\,\text{days}$.