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Key terms and definitions spanning DNA structure, transcription/translation, inheritance patterns, and cell division.
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DNA
Double-stranded, helical molecule that stores genetic information; polymer of nucleotides.
Nucleotide
Monomer of DNA composed of a deoxyribose sugar, a phosphate group, and a nitrogenous base.
Deoxyribose
Five-carbon sugar used in DNA nucleotides.
Phosphate group
Phosphate component of a nucleotide linking sugar to form DNA backbone.
Adenine (A)
Nitrogenous base that pairs with Thymine in DNA (2 hydrogen bonds).
Thymine (T)
Nitrogenous base that pairs with Adenine in DNA (2 hydrogen bonds).
Guanine (G)
Nitrogenous base that pairs with Cytosine in DNA (3 hydrogen bonds).
Cytosine (C)
Nitrogenous base that pairs with Guanine in DNA (3 hydrogen bonds).
Complementary base pairing
Rule that A pairs with T and C pairs with G through hydrogen bonds.
Chromosome
Thread-like DNA-protein structure; tightly wound DNA; visible during cell division; humans have 46 in somatic cells.
Chromatin
DNA wrapped around histones; condenses into chromosomes.
Histone
Protein around which DNA winds to form chromatin.
Telomere
Protective repetitive DNA caps at the ends of chromosomes.
Centromere
Region where sister chromatids are held together and where spindle fibers attach during cell division.
Sister chromatids
Two identical copies of a chromosome that are held together at the centromere after DNA replication.
Gene
DNA segment that codes for the synthesis of a protein.
Homologous chromosome
Pair of chromosomes with the same genes at the same loci, one from each parent.
Karyotype
Image of an organism’s chromosomes arranged by size and banding patterns.
Autosomes
Non-sex chromosomes (chromosomes 1–22 in humans).
Heterosomes / Sex chromosomes
Chromosomes that determine sex (X and Y in humans).
Diploid (2n)
Cell with two sets of chromosomes; somatic cells in humans.
Haploid (n)
Cell with one set of chromosomes; gametes in humans.
Gamete
Sex cell (sperm or egg) that carries half the genetic information.
Somatic cell
Body cell; typically diploid.
Allele
Different form of a particular gene.
Dominant allele
Allele expressed in the phenotype whenever present.
Recessive allele
Allele expressed only when homozygous recessive.
Genotype
Genetic makeup; the combination of alleles for a gene.
Phenotype
Observable trait resulting from genotype and environment.
Homozygous
Two identical alleles for a gene.
Heterozygous
Two different alleles for a gene.
Autosomal dominant
A trait where a dominant allele on an autosome expresses in the phenotype; affected individuals may have affected parents.
Autosomal recessive
A trait expressed only when two recessive alleles are present on autosomes.
Codominance
Both alleles are expressed equally in the phenotype.
Sex-linked (X-linked) inheritance
Genes on the X chromosome; males are often hemizygous for these genes.
Hemizygous dominant
Male has only one X chromosome carrying the dominant allele, determining phenotype.
Hemizygous recessive
Male has only one X chromosome carrying the recessive allele, determining phenotype.
Pedigree
Diagram showing family relationships and how traits are inherited across generations.
Punnett square
Tool to predict possible genotypes and phenotypes of offspring from parental alleles.
Start codon (AUG)
Codon that signals the start of translation and codes for Methionine.
Stop codons
UAA, UAG, UGA; terminate translation and do not code for amino acids.
Codon
Triplet of mRNA bases that specifies an amino acid.
mRNA
Messenger RNA; transcribes DNA and carries codons to the ribosome.
tRNA
Transfer RNA; brings specific amino acids to the ribosome during translation.
rRNA
Ribosomal RNA; structural and catalytic component of the ribosome.
Transcription
First stage of protein synthesis; synthesis of mRNA from DNA; occurs in the nucleus; RNA polymerase unzips DNA and copies a gene into mRNA.
Translation
Second stage of protein synthesis; mRNA is read by the ribosome in the cytoplasm to assemble amino acids into a polypeptide; tRNA brings amino acids.
Protein synthesis
Process of building proteins via transcription and translation.
Amino acid
Building blocks of proteins; 20 standard amino acids encoded by codons.
Ribosome
Molecular machine where translation occurs; reads mRNA codons and assembles amino acids.
DNA replication
Before cell division, DNA is copied; semi-conservative process where each new DNA molecule contains one old and one new strand.
DNA helicase
Enzyme that unwinds and separates the DNA strands.
DNA polymerase
Enzyme that adds new nucleotides to form a new DNA strand.
Semi-conservative replication
Each new DNA molecule contains one original strand and one newly synthesized strand.
Mitosis
Cell division of somatic (body) cells producing two genetically identical diploid daughter cells.
Meiosis
Cell division that produces four haploid gametes with genetic variation.
Interphase
Phase where cells grow and DNA is replicated before division.
Prophase
Chromosomes condense and become visible; spindle forms.
Metaphase
Chromosomes align at the cell equator.
Anaphase
Chromatids separate and move to opposite poles.
Telophase
Nuclei reform around separated chromosomes.
Cytokinesis
Division of the cytoplasm, yielding two separate cells.
Down syndrome (Trisomy 21)
Chromosomal abnormality where there are three copies of chromosome 21.
X chromosome count and female/male gender
Females: XX; Males: XY; X carries many genes; Y carries few.
Sex determination ratio (pedigree context)
Genotypic/phenotypic outcomes for offspring based on parental sex-linked genes.
X-linked inheritance example: colour blindness
Recessive X-linked trait; males can be affected with a single recessive allele on their single X.