Exam 1 Review | Genetics in Human Society

Genetics

The study of traits and conditions that are encoded in building block sequences of the molecule deoxyribonucleic acid (DNA) and their variations

Precision Medicine

An approach in healthcare that aims to prevent and treat disease based on individual differences in gene variants and considers DNA information to select treatments for a specific patient

Genetic Genealogy

The study of how people are related and where their ancestors lived, comparing information from DNA sequences and evidence

Heredity

The transmission of traits and biological information between generations

Genes

Units of heredity that contain the biochemical instructions that tell cells how to manufacture certain proteins

Genome

The complete set of genetic instructions characteristic of a type of organism, of which humans contain $2$ copies

Exome

The approximately $1\text{\%}$ of the genome that encodes proteins

Genomics

A field where researchers analyze and compare genomes

Bioethics

A field that addresses ethical concerns that arise from the use of genetic technologies

Nitrogenous Bases

Chemical units including Adenine (A) and Thymine (T) + Cytosine (C) and Guanine (G) which are held together by hydrogen bonds

DNA Replication

The construction of a new DNA double helix using the parental strand nucleotide sequence as a template

Transcription

A process that copies the sequence of part of one strand of a DNA molecule into a messenger RNA (mRNA)

Translation

A process where each three RNA bases in a row of a mRNA attract tRNA to bring in a particular amino acid to form a protein

Cystic Fibrosis

A disease where the protein cystic fibrosis transmembrane conductance regulator (CFTR) does not work, resulting in the secretion of thick mucus and impaired breathing

Cystic Fibrosis Cause

Glycine is replaced with aspartic acid at a specific site, closing a type of ion channel that enables secretion

Mutation

A change in a gene

Allele

An alternate (variant) form of a gene

Chromosomes

A highly wound, continuous molecule of DNA and the proteins associated with it

Somatic Cell

A non-sex cell with $23$ pairs of chromosomes in humans

Autosomes

Chromosomes that do not have any genes that determine sex, numbered $1-22$

Sex Chromosomes

Chromosomes that include genes that specify sex, known as X and Y

Karyotypes

A size-order chart of chromosome pairs

Mendelian Trait

A trait caused predominantly by a single gene

Complex Traits

A phenotype caused by one or more genes and an environmental influence

Number of Cells in Human Body

Approximately $30$ trillion cells

Differentiation

The specialization of distinctive cell types through the use of subsets of genes to manufacture proteins

Tissue

An aggregate of cells with a shared function

Organs

Structures formed when tissues intertwine and layer

Stem Cells

Unspecialized cells that can divide to yield another stem cell (self-renew) and a cell that differentiates

Genotype

The underlying DNA instructions and alleles present

Phenotype

The visible trait, biochemical change, or effect on health and the alleles expressed

Dominant Allele

A gene variant that is expressed when present in even one copy

Recessive Allele

An allele that must be present on both chromosomes of a pair to be expressed

Pedigrees

A chart of symbols connected by lines depicting genetic relationships and trait transmission in a family, where the percent of DNA sequence shared is halved at each generation

Gene Pool

All the alleles in a population

DNA Profiling

A group of biotechnologies detecting differences among individuals to identify them, using repeats, single nucleotide polymorphism patterns, and genome sequencing

Biobank

A facility or resource that stores DNA sequence and other data for use in research

Microbiome

All of the organisms that live in and on another organism

Pharmacogenetics

Testing for variants of a gene that affect the metabolism of a specific drug based on individual patient needs

Genetic Modification

Altering a gene or genome in a way that does not occur in nature, such as providing a carrot with a gene from a green bean

Recombinant DNA Technology

The process of adding genes from one type of organism to the cells of another

Genome Editing

A modern method involving double-stranded breaks in the DNA double helix to enable the insertion or removal of a specific DNA sequence

Exome Sequencing

Analyzing the $2\text{\%}$ of the genome sequence that determines the order of DNA bases for parts encoding proteins

Metagenomics

Sequencing all of the genomes present in a sample of a particular environment to simplify an invisible living world

Genetic Prospecting

Collecting DNA from organisms unique to a nation that have potential industrial use, such as antibiotics, limited by the Nagoya Protocol

Duchenne Muscular Dystrophy

A condition where one type of muscle protein is missing and the muscle cells collapse under forceful contraction.

Human Body Composition

Consists of $290$ specialized cell types that interact to form the four basic tissue types.

Connective Tissues

A variety of cell types and surrounding materials that protect, support, bind to cells, and fill spaces throughout the body including cartilage, bone, blood, and fat.

Epithelium

Tight cell layers that form linings that protect, secrete, absorb, and excrete (skin).

Muscle Tissues

Cells that contract and provide movement against rigid bones.

Nervous Tissues

Neurons transmit information as electrochemical impulses that coordinate movement and respond to stimuli while neuroglia support and nourish neurons.

Somatic Cells

Body cells that have two copies of the genome and are said to be diploid.

Diploid

A cell containing two sets of chromosomes.

Germ Cells

Cells that give rise to sperm or eggs and have one copy of the genome (haploid).

Haploid

A cell containing one set of chromosomes.

Stem Cells

Diploid cells that divide to give rise to differentiated cells and other cells in self-renewal.

Self-Renewal

The defining property of a stem cell; the ability to yield a daughter cell like itself.

Three Basic Types of Cells

Archaea, Bacteria, and Eukarya.

Prokaryotic Cells

A cell that does not have a nucleus or other membrane-bound organelles; includes members of the domains Bacteria or Archaea.

Eukaryotic Cell

A complex cell containing organelles, including a nucleus.

Organelles

A specialized structure in a eukaryotic cell that carries out a specific function.

Ribosomes

An organelle consisting of $RNA$ and protein that acts as a scaffold and catalyst for protein synthesis.

Carbohydrates

Organic compounds that consist of carbon, hydrogen, and oxygen in a $1:2:1$ ratio; provide energy and contribute to cell structure.

Lipids

Organic molecules that form membranes, provide insulation, and store energy; they contain more carbon and hydrogen atoms than oxygen atoms.

Proteins

A long chain of amino acids and a direct product of genetic information; they enable blood to clot and form contractile fibers and connective tissue.

Nucleic Acids

Molecules that hold genetic information, specifically $DNA$ or $RNA$.

Enzymes

A protein that speeds the rate of a specific biochemical reaction by lowering activation energy.

Nuclear Pores

Rings of several types of proteins around an opening where certain biochemicals exit and enter the nucleus.

Nuclear Lamina

A layer of fibrous material on the inner face of the nuclear membrane that provides support and turns off the expression of genes.

Nucleolus

Structure within the nucleus that contains $DNA$ and where ribosomes are produced.

Plasma Membrane

The outer boundary and cell membrane.

Cytoplasm

Cellular contents other than organelles.

Cytosol

The term for cytoplasm when small chemicals are removed.

Secretion Process

Release of a substance where gene information is copied into $mRNA$ and then $tRNA$ to direct protein manufacture.

Caseins

Nutritive proteins and antibodies that protect against infection and enzymes.

Endoplasmic Reticulum (ER)

A labyrinth of membranous tubules where proteins, lipids, and sugars begin to be synthesized.

Rough ER

The section of the Endoplasmic Reticulum primarily where ribosomes are made.

Smooth ER

The section of the Endoplasmic Reticulum where lipids are made and added to proteins arriving from the Rough ER.

Vesicles

Bubble-like membrane-bounded organelles that participate in secretion.

Golgi Apparatus

An organelle consisting of flattened, membranous sacs that packages secretion components.

Exosomes

Vesicles about $100$ nanometers in diameter that carry molecules from cell to cell; abundant in cerebrospinal fluid.

Faulty Exosome Conditions

Parkinson Disease, Brain Cancer, and Autism Spectrum Disorders are believed to be caused by these.

Lysosomes

Saclike organelles containing hydrolytic enzymes that degrade debris into usable forms for the cell.

Autophagy

A process where a cell dismantles its own debris through lysosomes.

Endosome

A vesicle that buds inward from the plasma membrane to ferry excess low-density lipoprotein cholesterol to lysosomes.

Lysosomal Storage Disease

An accumulation of debris caused by the absence or malfunction of any of the forty-three types of digestive enzymes in a lysosome.

Peroxisomes

Organelles with a single outer membrane studded with proteins that house enzymes catalyzing diverse reactions.

Adrenoleukodystrophy

A genetic disease where a type of lipid builds up in the brain and spinal cord due to absent peroxisomal enzymes.

Mitochondria

Organelles that provide energy by breaking chemical bonds in nutrient molecules.

Cristae

Folds in the inner membrane of mitochondria that hold enzymes to catalyze energy-releasing reactions.

Phospholipid Bilayer

A double layer of molecules with parallel fatty acid tails that forms the membrane structure.

Phosphate Group

A phosphorus atom bonded to four oxygen atoms.

Hydrophilic End

The phosphate end of a phospholipid that is attracted to water.

Hydrophobic End

The fatty acid end of a phospholipid that moves away from water.

Ions

Atoms or molecules with an electrical charge.

Channelopathies

Diseases that stem from malfunctioning ion channels.

Signal Transduction

Biochemical reactions that pass information from outside a cell to the inside, triggering a response.

Cellular Adhesion

A series of interactions among proteins that connect cells.

Cytoskeleton

A framework of protein tubules and rods that supports the cell and provides its distinctive form.

Microtubules

Hollow structures built of tubulin protein that maintain cellular organization and form cilia.