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Human Biology Key Definitions Flashcards

A2 OCR human biology key definitions

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409130906GeneA length of DNA which codes for the production of a particular polypeptide1
409130907AlleleOne of the different forms of a gene which occupy the same locus on homologous chromosomes2
409130908LocusThe position on a chromosome at which a particular gene is found3
409130909PhenotypeA person's observable characteristics, resulting from an interaction between their genotype and environment4
409130910GenotypeThe genetic make-up of an organism. It describes all the alleles that the nucleus of a human cell contains5
409130911HomozygousA genotype in which the two alleles of a gene are identical e.g. AA or aa6
409130912HeterozygousA genotype in which the two alleles of a gene are different e.g. Aa7
409130913DominantA dominant allele always shows its effect on the phenotype8
409130914RecessiveA recessive allele only shows its effect on the phenotype when the dominant allele is absent9
409130915CodominantBoth alleles affect the phenotype in a hetero-zygote10
409130916AutosomesAll the chromosomes except the sec chromosomes (X and Y)11
409130917Gene mutationAn alteration of DNA sequence12
409130918Phenylketonuria (PKU)Genetic disorder in which the essential digestive enzyme phenylalanine hydroxylase is missing. Can lead to severe brain damage in young children. Recessive gene mutation on chromosome 1213
409130919Cystic fibrosis (CF)Inherited disorder of exocrine glands resulting in thick mucous secretions in the respiratory tract that do not drain normally. Recessive gene mutation on chromosome 714
409130920Huntington's diseaseGenetic disorder that causes progressive deterioration of brain cells. Symptoms do not appear until the age of 30 or so. An autosomal dominant gene mutation on chromosome 415
409130921Sickle cell anaemiaA severe, chronic blood disease that is hereditary in origin. The abnormal gene produces a crescent shaped red blood cell, which causes the hemoglobin to crystallize within the cell and form painful blood clots and many other medical complications.16
409130922ABO blood groupsGenetically determined classes of human blood that are based on the presence or absence of carbohydrates A and B on the surface of red blood cells; phenotypes, also called blood types, are A, B, AB, and O17
409130923HbA HbANormal haemoglobin genotype18
409130924HbA HbSHalf normal haemoglobin, half sickle cell haemoglobin. Codominant genotype19
409130925HbS HbSSickle cell anaemia genotype20
409130926MalariaA disease caused by mosquitoes implanting parasites in the blood21
409130927Heterozygous advantageHeterozygous alleles have greater selective advantage than either homozygous condition22
409130928Sex linkageAn association between genes in sex chromosomes that makes some characteristics appear more frequently in one sex than in the other23
409130929HaemophiliaGenetic disease affecting the ability of the blood to clot. Sex-linked recessive disease on the X chromosome24
409130930Factor VIIIA coagulation factor whose absence is associated with haemophilia25
409130931ErythrocytesRed blood cells26
409130932Pedigree diagramA family tree chart which shows all known phenotypes for the trait/s in question27
409130933Autosomal linkageA pair of genes that are linked on the same chromosome. The smaller the distance between two loci, increases the chance that alleles will inherit together28
409130934ChiasmaA point of overlap of paired chromatids at which fusion and exchange of genetic material occurs during prophase I of meiosis29
409130935CrossoversThe exchange of genetic material between two paired chromosomes during meiosis30
409130936Crossover frequency[(Number of recombinant individuals produced) / (Total number of offspring)] x 10031
409130937RecombinantsOffspring whose phenotype differs from that of the parents; also called recombinant types32
409130938Non-disjunctionMeiosis in which there is a failure of paired homologous chromosomes to separate which results in an abnormal number of chromosomes in the daughter cells33
409130939TranslocationThe movement of a segment of DNA from one chromosome to another, which results in a change in the position of the segment34
409130940Turner's syndromeXO; Females with only one X sex chromosome35
409130941Klinefelter's syndromeXXY; A chromosomal trisomy in which males have an extra X chromosome; affected individuals typically have reduced fertility36
409130942Down's syndromeMental retardation associated with an extra copy of chromosome 2137
409130943TrisomyChromosomal abnormality in which there is one more than the normal number of chromosomes in a cell38
409130944KaryotypeA picture of all the chromosomes in a cell arranged in pairs39
409130945Restriction enzymesEnzymes that cut DNA at a specific sequence of nucleotides40
409130946Blunt endsRragment ends of a DNA molecule that are fully base paired, resulting from cleavage by a restriction enzyme41
409130947Sticky endsSingle stranded ends of DNA left after cutting with enzymes42
409130948Recombinant DNAGenetically engineered DNA made by recombining fragments of DNA from different organisms43
409130949AnnealThe pairing of complementary strands of DNA44
409130950DNA ligaseA linking enzyme essential for DNA replication45
409130951IntronSequence of a eukaryotic gene's DNA that is not translated into a protein46
409130952ExonSequence of a gene's DNA that transcribes into protein structures47
409130953PalindromicReading the same backwards and forwards48
409130954Gel electrophoresisProcedure used to separate and analyze DNA fragments by placing a mixture of DNA fragments at one end of a porous gel and applying an electrical voltage to the gel49
409130955Polymerase chain reactionA method of producing thousands of copies of DNA segment using the enzyme DNA polymerase50
409130956DNA profilingThe analysis of DNA fragments to see who they come from; compares genetic markers from noncoding regions that show variation between individuals51
409130957MinisatellitesHighly repetitive gene sequences that don't code for polypeptides, several thousand sequential copies at many points in the genome52
409130958PrimersArtificially made pieces of single-stranded DNA that are 20 to 30 nucleotides long that must be present for DNA polymerase to initiate replication53
409160106VectorUsed to transport DNA into the host cell54
409160107PlasmidA small cellular inclusion consisting of a ring of DNA that is not in a chromosome but is capable of autonomous replication55
409160108Recombinant DNAGenetically engineered DNA made by recombining fragments of DNA from different organisms56
409160109Gene therapyThe insertion of working copies of a gene into the cells of a person with a genetic disorder in an attempt to correct the disorder57
409160110AugmentationAdding a gene (copy of a functional allele)58
409160111Germ cells (gene therapy)Gene therapy using cells which give rise to eggs or sperm59
409160112Somatic cells (gene therapy)Gene therapy using non-reproductive cells60
409160113Human Genome ProjectAn international collaborative effort to map and sequence the DNA of the entire human genome61
409160114Pedigree analysisThe formal study of the pattern of a trait in a pedigree to determine such properties as its mode of inheritance, age of onset, and variability in phenotype62
409160115Genetic counsellingA communication process designed to help couples assess their chances of giving birth to a baby with a hereditary disorder and choose the best course of action in view of risks and family goals63
409160116Transplant surgeryReplaces a malfunctioning body part, tissue, or organ64
409160117HLA antigensAntigens the body recognizes as self or non-self; present on all body cells except the red blood cells; human leucocyte antigen65
409160118Tissue rejectionRejection of transplanted tissue results because the recipient's immune system recognizes that the transplanted tissue is not "self"66
409160119HaplotypeEach set of HLA antigens; every person inherits one from each parent67
409160120XenotransplantationA surgical procedure in which tissue or whole organs are transfered from one species to another species68
409160121CadaversA dead body69
409160122Stem cellsUnspecialised cells that retain the ability to become a wide variety of specialized cells70
409160123PluripotentStem cells with the potential to differentiate into most any type of cell71
409160124BlastocystsAn early embryonic state which embryonic stem cells are derived from72
409160125CompatibilityThe ability to accept transplanted tissue73
409160126Major histocompatibility complex (MHC)The area of chromosome 6 where the loci of the genes for HLA antigens are situated74
409198003Nervous systemThe sensory and control apparatus consisting of a network of nerve cells75
409198004Central nervous systemThe portion of the vertebrate nervous system consisting of the brain and spinal cord76
409198005Peripheral nervous systemThe section of the nervous system lying outside the brain and spinal cord77
409198006ScleraA tough, white outer layer; protects structures within the eye and maintains the shape of the eye78
409198007Choroid layerRichly supplied with blood vessels; inner part made up of cells containing the dark pigment, melanin; absorbs light and prevents it from being reflected inside the eye79
409198008RetinaInnermost layer of the eye; contains the receptor cells (rods and cones); receptor cells receive the light stimulus and convert light into nerve impulses80
409198009FoveaPart of the retina where cones are concentrated; area of maximum visual acuity81
409198010ConjunctivaThin layer at the front of the eye; protects the surface of the eye; kept moist by fluid secreted by tear ducts82
409198011CorneaContinuous with the sclera; refracts light rays entering the eye so focusing light rays onto the retina83
409198012IrisContains circular and radial muscles and pigmented cells; helps to control the amount of light passing into the eye84
409198013PupilCircular space (hole) in the centre of iris; size altered by the contraction and relaxation of the iris muscles85
409198014Ciliary bodyContains ciliary muscles; helps to control the shape (diameter) of the lens86
409231438LensMade up of stacks of long, narrow, transparent cells; about 4 mm thick and biconvex; focuses rays of light onto the retina87
409231439Suspensory ligamentsLigaments that run between the lens and the ciliary body; holds the lens in place; accommodation88
409231440Vitreous humourA gelatinous fluid found behind the lens; maintains the shape of the eye89
409231441Aqueous humourA watery liquid found in front of the lens; maintains the shape of the front of the eye90
409247676Optic nerveBundle of nerve fibres; carries action potentials to the brain91
409247677RodsRetinal receptors that detect black, white, and gray; necessary for peripheral and twilight vision, when cones don't respond92
409247678ConesRetinal receptor cells that are concentrated near the center of the retina and that function in daylight or in well-lit conditions. They detect fine detail and give rise to colour sensations93
409247679Bipolar cellsSpecialised cells which connect rods and cones to the ganglion cells of the optic nerve94
409247680Ganglion cellsThe specialised cells which lie behind the bipolar cells whose axons form the optic nerve which takes the information to the brain95
409247681Blind spotThe point at which the optic nerve leaves the eye, where no receptor cells are located96
409247682Action potentialA neural impulse; a brief electrical charge that travels down an axon; generated by the movement of positively charged atoms in and out of channels in the axon's membrane97
409247683Resting potentialThe potential difference between the two sides of the membrane of a nerve cell when the cell is not conducting an impulse; -40mV in rod cells98
409247684RhodopsinA visual pigment consisting of retinal and opsin. When it absorbs light, the retinal changes shape and dissociates from the opsin, after which it is converted back to its original form99
409247685BleachingThe change in the shape of the retinal molecule and the consequent change in shape of the opsin protein100
409247686Visual acuitySharpness of vision101
409247687Snellen chartDisplay consisting of a printed card with letters and numbers in lines of decreasing size to test eye sight102
409247688Ishihara testTest for colour blindness103
409247689BrainThe part of the central nervous system that is located in the skull and controls most functions in the body104
409247690CraniumThe part of the skull that encloses the brain105
409247691MeningesA membrane (one of 3) that envelops the brain and spinal cord106
409247692Blood-brain barrierBlood vessels (capillaries) that selectively let certain substances enter the brain tissue and keep other substances out107
409247693Cerebral cortexThe layer of unmyelinated neurons (the gray matter) forming the cortex of the cerebrum108
409247694CerebrumAnterior portion of the brain consisting of two hemispheres109
409247695CerebellumThe "little brain" attached to the rear of the brain stem; its functions include processing sensory input and coordinating movement output and balance110
409247696Sympathetic branchThe division of the autonomic nervous system that mobilizes the organism for physical exertion111
409247697Parasympathetic branchThe division of the autonomic nervous system that restores the body's normal resting state and conserves energy112
409247698Frontal lobeThe lobe at the front of the brain associated with movement, speech, and impulsive behavior113
409247699Parietal lobePortion of the brain behind the frontal lobe; responsible for sensations such as pain, temperature, and touch114
409247700Occipital lobePortion of the brain posterior to the parietal and temporal lobes; responsible for vision115
409247701Temporal lobeThe portion of the cerebral cortex that is just above the ears and that is involved in hearing, language processing, and memory116
409247702CerebellumInvolved in coordinating your muscles to allow precise movements and control of balance and posture117
409247703Medulla oblongataLies beneath the cerebellum; forms the link between the brain and the spinal cord118
409247704HypothalmusBrain structure that acts as a control center for recognition and analysis of hunger, thirst, fatigue, anger and body temperature119
409247705Motor neuroneType of neurone that caries messages from the brain and spinal cord to an effector120
409247706Sensory neuroneNeurones conveying signals from a receptor to the CNS121
409247707Relay neuroneA neurone in the CNS which passes impulses from one neurone to another122
409247708AxonLong nerve fibre that conducts away from the cell body of the neuron123
409247709DendronCarries action potentials towards the cell body124
409247710DendritesVery short processes that carry nerve impulses towards the cell body125
409247711Schwann cellsPart of the neuron that produces the myelin sheath; functions in repair and regeneration of damaged nerves; wrap around the axon; aid the myelin in insulation126
409247712Myelin sheathA layer of myelin encasing (and insulating) the axons of medullated nerve fibers127
409247713Nodes of RanvierSmall gaps in the myelin sheath of medullated axons128
409247714Reflex arcA relatively direct connection between a sensory neurone and a motor neurone that allows an extremely rapid response to a stimulus, often without conscious brain involvement129
409247715ReceptorSpecialised cell that monitors conditions in the body or external environment; has a characteristic range of sensitivity130
409247716EffectorA nerve fibre that terminates on a muscle or gland and stimulates contraction or secretion131
409488184PolarisedMembrane with a potential difference across it132
409488185Resting potentialThe potential difference between the two sides of the membrane of a nerve cell when the cell is not conducting an impulse; -70 mV in neurones133
409488186Sodium/potassium pumpA carrier protein that uses ATP to actively transport sodium ions out of a cell and potassium ions into the cell134
409488187Potential differenceA measure of the charge difference across the cell membrane135
409488188DepolarisedWhen the axon undergoes an action potential, usually +40 mV136
409488189HyperpolarisedThe condition of a membrane that is more highly polarised than the usual resting state. The resting potential is lower than usual; -90 mV137
409488190All or nothing lawThe principle that either a neuron is sufficiently stimulated and an action potential occurs or a neuron is not sufficiently stimulated and an action potential does not occur138
409488191Refractory periodThe time after a neuron fires or a muscle fibre contracts during which a stimulus will not evoke a response139
409488192Saltatory conductionRapid transmission of a nerve impulse along an axon, resulting from the action potential jumping from one node of Ranvier to another, skipping the myelin-sheathed regions of membrane140
409488193SynapseThe junction between two neurons (axon-to-dendrite) or between a neuron and a muscle141
409488194Synaptic cleftSynaptic gap or synaptic space; tiny gap between the terminal of one neuron and the dendrites of another neuron (almost never touch); location of the transfer of an impulse from one neuron to the next142
409488195NeurotransmitterA chemical used by a neuron to transmit an impulse across a synapse to another cell143
409488196Cholinergic synapseA junction between neurons that uses acetylcholine as the neurotransmitter144
409488197Synaptic bulbWhere neurotransmitters are made; contain mitochondria, endoplasmic reticulum and synaptic vesicles containing the neurotrasnsmitter145
409488198Postsynaptic membraneEffector cell or neurone that is the receiver of the neurotransmitter (part of the synapse)146
409488199Synaptic cleftSpace between two connecting neurons where neurotransmitters are released147
409488200Calcium ion channelsPathway in the plasma membrane through which calcium ions enter and leave148
409488201Synaptic vesiclesTiny sacs in a terminal button that release chemicals into the synapse149
409488202AcetylcholinesteraseAn enzyme that breaks down the neurotransmitter acetylcholine150
409488203Traumatic brain injury (TBI)A blow to the head or a penetrating head injury that damages the brain151
409488204CT scanA series of x-ray photographs taken from different angles and combined by computer into a composite representation of a slice through the body152
409488205MRI scanUses magnetic fields and radio waves to produce computer-generated images that distinguish among different types of soft tissue153
409488206Nerve conduction velocity testAn electrical shock of peripheral nerves to record time of conduction; used to diagnose various peripheral nervous system diseases154
409488207Glial cellOne of the cells that provide structural support for neurons155
409488208StrokeOccurs when there is an interruption of blood supply to a region of the brain, depriving nerve cells in the affected area of oxygen and nutrients156
410790205DrugAny chemical that affects the way your body functions, and how you think and feel157
410790206Parkinson's diseaseA progressive disease that destroys brain cells and is identified by muscular tremors, slowing of movement, and partial facial paralysis158
410790207DopamineNeurotransmitter that influences voluntary movement, attention, alertness; lack of dopamine linked with Parkinson's disease159
410790208Diamorphine (heroin)Can be used to relieve severe pain; chemical derivative of morphine160
410790209EndorphinsNeurotransmitters that give one a feeling of well-being, euphoria or eliminate pain161
410790210OpioidA chemical, such as opium, heroin, and other molecules with related structures that reduce pain and induce feelings of euphoria162
410790211CannabisSubstance that causes feelings of well-being, perceptual distortions, and paranoid thinking163
410790212Physical dependenceA physiological need for a drug, marked by unpleasant withdrawal symptoms when the drug is discontinued164
410790213Psychological dependenceThe condition that exists when a person must continue to take a drug in order to satisfy intense mental and emotional craving for the drug165
410836714HomeostasisMetabolic equilibrium actively maintained by several complex biological mechanisms that operate via the autonomic nervous system to offset disrupting changes166
410836715VasodilationDilation of blood vessels (especially the arteries)167
410836716ThyroxineHormone produced by the thyroid glands to regulate metabolism by controlling the rate of oxidation in cells; increases metabolic rate168
410836717VasoconstrictionDecrease in the diameter of blood vessels169
410836718HypothermiaSubnormal body temperature; <35C170
410836719HyperthermiaAbnormally high body temperature171
410836720Islets of LangerhansCell clusters in the pancreas that form the endocrine part of that organ172
410836721PancreasA large elongated exocrine and endocrine gland located behind the stomach173
410836722EndocrineAny of the glands of the endocrine system that secrete hormones directly into the bloodstream174
410836723GlucagonA hormone secreted by alpha cells in the islets of Langerhans; causes increase blood glucose concentration175
410836724InsulinA hormone secreted by beta cells in the islets of Langerhans; causes a decrease in blood glucose concentration176
410836725GlycogenesisThe conversion of glucose to glycogen when the glucose in the blood exceeds the demand177
410836726GlyconeogenesisProcess of producing glucose from fat and protein178
410836727Type 1 diabetesInsulin dependent; body is unable to produce insulin because the beta cells are destroyed by own immune system179
410836728Type 2 diabetesInsulin independent; the body target cells lose their responsiveness to insulin; can be caused by obesity180
411251142ExcretionRemoval of waste products of metabolism from the body181
411251143MetabolismChemical processes occurring within a living cell or organism that are necessary for the maintenance of life182
411251144DeaminationThe removal of an amino group from an amino acid; breaks off NH2 from amino acids turning it into ammonia183
411251145Cortex (kidney)Outer region of the kidney184
411251146Medulla (kidney)The inner part of the kidney185
411251147Pelvis (kidney)The funnel shaped cavity that receives the urine in the kidney186
411251148NephronFunctional unit of the kidney187
411251149Bowman's capsule (renal capsule)Cup-shaped end of renal tubule containing the glomerulus188
411251150GlomerulusSmall network of capillaries encased in the upper end of a nephron; where the filtration of blood takes place189
411251151Proximal convoluted tubuleFirst section of the renal tubule that the blood flows through; reabsorption of water, ions, and all organic nutrients190
411251152Loop of HenleSection of the nephron tubule that conserves water and minimizes the volume of urine191
411251153Distal convoluted tubuleBetween the loop of Henle and the collecting duct; selective reabsorption and secretion occur here, most notably to regulate reabsorption of water and sodium192
411251154Collecting ductThe portion of the nephron where water reabsorption is regulated via antidiuretic hormone (ADH); several nephrons empty into each collecting duct, and this is the final region through which urine must pass on its way to the ureter193
411251155UltrafiltrationThe process by which fluid and small molecules are filtered out of the blood in the glomerulus194
411251156Selective reabsorptionProcess in the kidney that puts useful substances (water, glucose, amino acids) back into the blood195
411251157Afferent arterioleThe small artery that carries blood toward the capillaries of the glomerulus196
411251158Efferent arterioleThe small artery that carries blood away from the capillaries of the glomerulus197
411251159Basement membraneActs as a molecular filter allowing proteins with a molecular mass less than 69000 through198
411251160PodocytesA cell with branching tentacle-shaped extensions that constitutes the barrier through which blood is filtered in the glomerulus of the kidney199
411251161MicrovilliFingerlike extensions of the plasma membrane200
411251162OsmoreceptorsSensory receptors in the hypothalamus that detect changes in the osmotic pressure of the blood and surrounding extracellular fluids201
411251163Antidiuretic hormone (ADH)Hormone released from the hypothalamus; inhibits urine production; causes kidneys to reabsorb water; increases blood pressure202
411251164Posterior pituitary glandADH passes along the axons of the neurosensory cells which end in the __________ from where ADH is released into the blood plasma203
411251165Cyclic AMP (cAMP)Leads to the insertion of aquaporins into the collecting duct cell membrane, where they open, making the membrane more permeable to water204
411251166AquaporinsWater channel proteins that allow water to pass through them205

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