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2.2 Vocab Terms
| Term | Definition |
|---|---|
| alleles | one of two or more alternative versions of a gene that occupy a specific position (locus) on a chromosome |
| autosomes | the numbered, non-sex chromosomes found in eukaryotic cells, representing 22 of the 23 pairs of chromosomes in humans. |
| Centromere | a specialized, constricted region of DNA on a chromosome that acts as the anchor point for kinetochore assembly |
| chromatid | one of two identical, longitudinally adjacent threads formed when a eukaryotic chromosome replicates during the S-phase of the cell cycle |
| chromosome | hread-like, condensed structures of DNA and proteins (histones) found in the nucleus of eukaryotic cells |
| deletion mutation | a type of genetic alteration in which one or more nucleotide base pairs are removed from a DNA sequence |
| DNA | the fundamental molecule carrying genetic instructions for the development, functioning, growth, and reproduction of living organisms. |
| DNA Primer | a short, single-stranded nucleic acid sequence (usually 10-30 bases) that serves as the essential starting point for DNA synthesis and replication |
| dominant allele | a variant of a gene that expresses its associated phenotype (trait) even when only one copy is present |
| eukaryotic | complex, membrane-bound organisms, including humans, animals, plants, fungi, and protists, characterized by a distinct nucleus containing DNA and specialized organelles |
| Familial Hypercholesterolemia | a common, inherited genetic disorder characterized by severely elevated serum low-density lipoprotein cholesterol (LDL-C) levels, typically present from birth |
| frameshift mutation | a genetic mutation caused by the insertion or deletion of nucleotide bases in a DNA sequence, where the number of bases added or removed is not a multiple of three |
| gene | the basic physical and functional unit of heredity, composed of a specific sequence of nucleotides in DNA (or RNA in some viruses) that acts as a blueprint for creating molecules essential for life, primarily proteins |
| genome | the complete set of genetic instructions (DNA, or RNA in some viruses) containing all instructions needed to build and maintain an organism |
| genotype | the specific genetic makeup or DNA sequence of an organism, representing the precise alleles inherited from parents |
| gel electrophoresis | a fundamental molecular biology technique that separates macromolecules—specifically DNA, RNA, or proteins—based on their size and electrical charge. |
| heterozygous | a genetic condition in a diploid organism where an individual inherits two different versions (alleles) of a specific gene, one from each biological parent |
| homologous chromosomes | pairs of matching chromosomes—one inherited from each parent—found in diploid cells. |
| homozygous | a genetic condition in diploid organisms where an individual inherits identical alleles (gene variants) for a specific trait at the same locus on homologous chromosomes, one from each parent |
| insertion mutation | a type of genetic mutation where one or more extra nucleotide base pairs are added into a DNA sequence. |
| karyotype | he complete, ordered set of chromosomes from a single cell of an organism |
| Messenger RNA (mRNA) | a single-stranded molecule of RNA that carries genetic instructions from DNA in the cell nucleus to the cytoplasm, where it acts as a template for protein synthesis (translation) by ribosomes |
| mitosis | a fundamental biomedical process of cell division where a single eukaryotic somatic cell (body cell) divides to produce two genetically identical daughter cells, each containing the same number of chromosomes as the parent cell |
| mutation | a permanent, heritable change in the nucleotide sequence of the DNA |
| nondisjunction | the failure of homologous chromosomes or sister chromatids to separate properly during cell division |
| nucleotides | the fundamental building blocks of nucleic acids (DNA and RNA), consisting of a nitrogenous base, a five-carbon sugar (ribose or deoxyribose), and a phosphate group. |
| pedigree | a, diagram or family tree that maps the relationships between ancestors and descendants to track the inheritance of specific traits, genetic conditions, or diseases across generations |
| phenotype | he set of observable characteristics, physical traits, or behaviors of an organism |
| point mutation | a genetic alteration involving a change, insertion, or deletion of a single nucleotide base pair in the DNA or RNA sequence |
| polymerase chain reaction | a foundational laboratory technique used in molecular biology to rapidly amplify, or create millions to billions of copies of, a specific segment of DNA from a tiny, original sample |
| protein | large, essential biomolecules (macromolecules) composed of one or more long chains of amino acid residues held together by peptide bonds |
| protein synthesis | the fundamental biological process by which cells build proteins—essential for structure, function, and regulation—by translating genetic information from DNA into amino acid chains |
| punnett square | a diagram used in biology to predict the potential genotypes and phenotypes of offspring from a cross between two parents |
| recessive allele | version of a gene that only expresses its associated phenotype when an individual is homozygous |
| restriction enzyme | a protein produced by bacteria that acts as molecular scissors to cut double-stranded DNA at specific, short nucleotide sequences |
| ribonucleic acid (RNA) | a vital, typically single-stranded nucleic acid present in all living cells and some viruses, functioning primarily to convert genetic information from DNA into proteins |
| sex chromosomes | a specialized pair of chromosomes (labeled X and Y in mammals) that determine an organism's biological sex, |
| silent mutation | a type of DNA point mutation that alters a nucleotide base but does not change the resulting amino acid sequence in a protein |