Biological Anthropology - Key Vocabulary (Genetics & Cell Biology)

Vocabulary flashcards covering genetics, DNA/protein biology, cell division, and common chromosomal conditions.

Genetics

The study of how genes work and how traits are passed down from one generation to the next; genes also tell a story about evolutionary history.

Gene

A DNA segment that codes for a functional product; basic unit of heredity.

BRCA1 and BRCA2

Genes associated with hereditary breast and ovarian cancer; their testing and patents sparked debates about gene ownership.

Myriad Genetics

Company that patented BRCA1 and BRCA2, triggering debates over gene patenting.

Gene patenting

The practice of privately owning human genes, with implications for testing, pricing, and research.

CRISPR-Cas9

A gene-editing technology using a CRISPR locus and the Cas9 enzyme to modify DNA.

Origin of Life

The emergence of life on Earth around 3.7 billion years ago; all life is related through shared ancestry.

Prokaryotic cell

Simple cell type without a nucleus (e.g., bacteria); features include capsule, cell wall, cytoplasmic membrane, ribosomes, and nucleoid.

Nucleoid

Region in a prokaryotic cell where the circular DNA molecule resides.

Eukaryotic cell

Cell type with a nucleus and organelles; contains mitochondria, ribosomes, nucleus, and chromosomes (DNA).

Mitochondria

Energy-producing organelles in eukaryotic cells; contain their own DNA.

Ribosome

Molecular machine that synthesizes proteins; located in the cytoplasm and on the rough endoplasmic reticulum.

Nucleus

Cellular organelle that houses chromosomes (DNA) and regulates gene expression.

DNA

Deoxyribonucleic acid; the genetic material with a sugar-phosphate backbone and base-pairing (A–T, G–C). In humans, about 3 billion base pairs.

RNA

Ribonucleic acid; includes messenger RNA (mRNA) that carries DNA’s code to ribosomes and transfer RNA (tRNA) for protein synthesis.

Base pairing rules (A–T / G–C)

In DNA, adenine pairs with thymine and guanine pairs with cytosine.

Base pairs

Pairs of nucleotides on opposite strands that form the rungs of the DNA ladder.

Genome

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

SNP (Single Nucleotide Polymorphism)

A single-base genetic variation that contributes to genetic diversity among individuals.

Point mutation

A change in a single DNA base (substitution, insertion, or deletion) that can alter a protein.

Amino acid

Building blocks of proteins; there are 20 standard amino acids, some of which are essential in the diet.

Protein

A macromolecule made of amino acids that performs structural, enzymatic, signaling, and transport roles.

Hemoglobin

Oxygen-carrying protein in red blood cells; deficiency can cause anemia.

Sickle Cell Anemia

Inherited disorder caused by a point mutation in the beta-globin gene, leading to abnormal hemoglobin and misshapen red blood cells.

Autosomes

Chromosomes that are not sex chromosomes; govern most physical traits.

Sex chromosomes

Chromosomes that determine sex; in humans, X and Y.

Karyotype

A display or map of an individual’s chromosomes, typically arranged in pairs (46 total in humans).

Gene locus

The specific physical location of a gene on a chromosome.

Allele

Alternative forms of a gene at a given locus; may be same (homozygous) or different (heterozygous).

Homozygous

Having two identical alleles at a gene locus.

Heterozygous

Having two different alleles at a gene locus.

Homeobox genes / Hox genes

Regulatory genes that direct development and body plan segmentation.

Noncoding DNA (junk DNA)

DNA that does not code for proteins; includes regulatory regions and repetitive elements.

Transcription

Process of copying DNA into messenger RNA (mRNA).

Translation

Process by which ribosomes use mRNA codons to assemble amino acids into a protein, guided by tRNA.

Codon

A three-nucleotide sequence in DNA or mRNA that specifies a particular amino acid.

tRNA

Transfer RNA; brings specific amino acids to the ribosome during protein synthesis.

Meiosis

Cell division that produces gametes (sperm and egg); two divisions yield four haploid cells with genetic recombination.

Mitosis

Cell division that produces two genetically identical diploid daughter cells; used for growth and tissue repair.

Zygote

Fertilized egg; the first cell of a new individual formed from the union of sperm and egg.

Zona pellucida

Glycoprotein layer surrounding the oocyte; sperm must penetrate it for fertilization.

Oocyte

Egg cell produced in the ovaries.

Spermatozoa

Male gametes produced in the testes; carry half the DNA.

Nondisjunction

Failure of chromosome separation during meiosis, leading to monosomy or trisomy.

Down syndrome (Trisomy 21)

Aneuploid condition with an extra chromosome 21; associated with developmental and health issues.

Turner syndrome

Monosomy X (XO) in females; infertility and certain developmental features.

Klinefelter syndrome

Sex chromosome anomaly (XXY) in males; often infertility and other features.

Trisomy 18

Edwards syndrome; severe congenital anomalies with high infant mortality.

Trisomy 13

Patau syndrome; severe congenital anomalies with high infant mortality.

Triple X syndrome (XXX)

Females with an extra X chromosome; generally mild or subtle effects.

Nondisjunction risk and age

Risk of chromosomal mis-segregation increases with maternal age.

Zona pellucida, oocyte, spermatozoa

Key components in fertilization: oocyte is the egg, zona pellucida surrounds the egg, spermatozoa are the sperm.