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143 Cards in this Set
- Front
- Back
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Iatrogenic
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result of medical treatment
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Mitosis
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somatic cells
- 46 chromosome end - product |
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Meiosis
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gametes (sperm and egg only)
- 23 chromosome end - product |
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Glycolysis
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occurs in cytoplasm
- End product is Pyruvate resulting in 2ATP |
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Oxidative Phosphorylation
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Occurs in the mitochondria
- Produces 32ATP |
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Ribosomes
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Protein Syntehsis (rRNA, tRNA, mRNA)
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Active transport
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large, charged and non-lipid soluble molecules that go AGAINST the GRADIENT
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is ATP required for Active Transport?
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YES
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Symport
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2 molecules moving in the same direction
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antiport
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2 molecules moving in opposite directions
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Diffusion
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momvent of solute molecule from an area of greater concentration to one of lesser concentration
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Osmosis
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movement of water "down" a concentration gradient from an area of higher water concentration to a lower one
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Cell communication: Paracrine
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Local tissue messages
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What is the composition of a gene?
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A gene is the DNA sequence/segments made up of base pairs (AT & GC)
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What do genes make?
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Chromosomes
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Iatrogenic
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result of medical treatment
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Mitosis
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somatic cells
- 46 chromosome end - product |
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Meiosis
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gametes (sperm and egg only)
- 23 chromosome end - product |
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Glycolysis
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occurs in cytoplasm
- End product is Pyruvate resulting in 2ATP |
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Ribosomes
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Protein Syntehsis (rRNA, tRNA, mRNA)
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Oxidative Phosphorylation
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Occurs in the mitochondria
- Produces 32ATP |
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Ribosomes
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Protein Syntehsis (rRNA, tRNA, mRNA)
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Active transport
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large, charged and non-lipid soluble molecules that go AGAINST the GRADIENT
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is ATP required for Active Transport?
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YES
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Symport
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2 molecules moving in the same direction
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antiport
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2 molecules moving in opposite directions
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Diffusion
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momvent of solute molecule from an area of greater concentration to one of lesser concentration
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Osmosis
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movement of water "down" a concentration gradient from an area of higher water concentration to a lower one
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Cell communication: Paracrine
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Local tissue messages
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What is the composition of a gene?
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A gene is the DNA sequence/segments made up of base pairs (AT & GC)
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What do genes make?
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Chromosomes
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Active transport
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large, charged and non-lipid soluble molecules that go AGAINST the GRADIENT
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is ATP required for Active Transport?
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YES
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Symport
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2 molecules moving in the same direction
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antiport
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2 molecules moving in opposite directions
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Diffusion
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momvent of solute molecule from an area of greater concentration to one of lesser concentration
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Osmosis
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movement of water "down" a concentration gradient from an area of higher water concentration to a lower one
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Cell communication: Paracrine
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Local tissue messages
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What is the composition of a gene?
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A gene is the DNA sequence/segments made up of base pairs (AT & GC)
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What do genes make?
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Chromosomes
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Purpose of in somtic cells
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to provide direction for cell function
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How do somatic cells differ from gametes?
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- Somatic cells are everything but the sperm and egg that contain 46 chromosomes.
- Gametes are just the sperm and egg that contain 23 chromosomes each |
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Genotype
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The genetic constitution of an individual; genetic info a person inherits; has potential to influence phenotype
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Phenotype
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the physical, biochemical and biological traits that a person actually exhibits
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Aneuploidy
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cells that do not contain a multiple of 23 chromosomes (possible downsyndrome)
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Monosmy
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only 1 copy of chromosome (lethal except in sex chromosomes)
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Trisomy
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3 copies of one chromosome
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Non-disjunction
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the chromosomes did not disjoin or separate
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Single gene diseases
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follows inheritance causing a defective or decreased protein/enzyme
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Marfan's syndrome (AD)
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long thin body with large extremities
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Huntington's disease (AD)
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oneset at 40 with brain atrophy leading to death
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Neurofibromatosis (AD)
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tumors develop in late childhood/adolescents
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Lipid Metabolism (AD)
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high blood cholesterol
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Cystic Fibrosis (AR)
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long arm of chromosome 7, abnormal gene, cl-channel doesnt work which causes Na+ re-absorption, water following and thickening secretions results
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Tay-Sachs (AR)
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lysosomal storage disease, Eastern European JEWs, Death by age 4
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Turner's Syndrome (45,X)
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- Only one X chromosome (girls only, boys never get it)
- No mental retardation but math/spatial problems -short, webbed neck, no ovaries |
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Klinefelter's syndrome (47, XXY)
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- Males only
- Rounded body type, taller, possible language impairment -Possible enlarged male breasts, spare facial/body hair, small testes, infertility |
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JAcob's Syndrome (XYY)
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XYY - may cause retardation
- RARE - More acne, testosterone and taller |
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Autosomal recessive transmission of disease ?
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who gest disease? whos the carrier?
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What types of damage occurs at what time in a pregnancy
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15-60 days: structure is affected
-3-8 weeks |
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Atrophy
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decrease in cellular size
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denervation
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paralysis of muscles
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Hypertrophy
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increase of size of cells/organ
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Positive ex. of Hypertrophy
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- pregnant uterus
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Hyperplasia
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increased number of cells
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Hormonal Hyperplasia
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uterine lining (advantage)
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MEetaplasia
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replacement of one type of cell for another of the same time; reversible change
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Positive ex. of Metaplasia
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smoking damage causes ciliated cells to change to squamous cells
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Dysplasia
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abnormal, possibly reversible changes in size, shape and organization of cell
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ex. of dysplasia
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Pre-cancerous on low-high grade scale usually in breast, lung and cervix
- HPV |
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What happens in ischemia?
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Ischemia is decreased blood flow to an organ
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What damage will occur in the cell with ischemia?
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Decreased mitochondria oxygenation causes severe vacuolization and decreased ATP
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What is a free radical?
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an atom that only has one electron
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what do free radicals do to cells?
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Since it needs 2 atoms, it steals one from other molecules and creates more free radicals
- causes a domino effect |
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What causes free radicals?
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normal cellular metabolism
- even if you avoid chemicals & such your body will still make free radicals |
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How does a person/cell protect iself from the affects of free radicals?
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- Antioxidant enzymes from the body (from normal cell metabolism)
- Antioxidant Molecules (Vitamin C, E, beta carotene) |
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Apoptosis
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process of cellular self-destruction (normal cell death)
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NEcrosis
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death of cells (abnormal cell death)
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Gangrene
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considerable amount of nercrosis in tissue
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Somatic death
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cessation of respiration and cirrculation (flat line on EKG --> HEArt and lungs have stopped
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What is a re-perfusion injury?
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- the return of blood flow to an area that was blocked
- this injury results due to large numbers of free radicals which overwhelm protective mechanisms |
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Fluid comparment percentages: H2O
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60% of body weight
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Fluid comparment percentages: Extracellular
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20%
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Fluid comparment percentages: Extracellular:
- Intravascular fluids (blood stream)- Interstitial fluids (in b/t cells) |
- 5%
- 15% |
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Fluid comparment percentages: Intracellular
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40%
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Edema
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- Increased hydrostatic pressure
- decreased osmotic pressure - increased capillary permeability |
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Fluid Loss
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- decreased hydrostatic pressure
- increased osmotic pressure |
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Edema? what is it?
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excess fluid in interstitial tissue
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What are the base pairs of DNA made up of?
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C + T
A + G |
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Hapolid cells (meiosis or mitosis)
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MEIOSIS
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Diploid cells(meiosis or mitosis)
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MITOSIS
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Roles of chromosomes
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- instruction for cell function
- protein synthesis |
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Gene Induction
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process that increases expession
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Gene repression
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reduces or prevents the synthesis of a substance
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Karyotype
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- display of chromosomes based on size
- Numbered 1-22 (longest to shortest) - identification of an individual/identification of missing or dupilicated genes |
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Allele
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Alternative forms of a gene located at the same locus (site) on homolgous chromosomes
- Dominant - Recessive |
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Describe the Allele
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- a single spot on a gene that contributes to your phenotype
- gives you charactieristics of yourself |
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Inherited Mutations only occur if?
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if mutation in DNA of gametes
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Mutation will not be inherited if?
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If it occurs in somatic cells
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Penertrance
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Person who inherits a dominant trait but fails to express it - reduced penetrance
- appears to "skip" a generation |
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Expressivity
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Dominant trait can be expressed differently
- ex. down syndrome (diff. variations - depends on how it is in the gene) |
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Mitochondrial gene disorders are transmitted to?
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All offspring by mother
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Mitrochondrial gene disorder
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DNA with mitochondria do not have repairer genes
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Dominant - big or little A
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A
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Recessive - big or little A
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a
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autosoma dominant - couple?
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one with the disease + parent without trait
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Lipid Metabolism (AD)
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causes high blood cholesterol
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Autosomal Recessive Trait
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NEeds 2 recessive genes to allow trait to be present
- both parents must bring gene to make it present (carrier state) |
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XY chromosome facts: in females
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(XX)
- only one of 2 Xs is active if one has defects it can be compensated for by the other X |
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XY chromosome facts: males
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males only have one X so ther eis no back - up genes
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X-linked inheritance disease: male
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man with x-linked disease
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Man with x-linked disease - can he give x-linked disease to a male child?
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no because he only gives a
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Man with x-linked disease - can he transmit x-linked trait to daughers?
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yes but there is a back-up X so the daughter does not get the disease
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Fragile X syndrome
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- Second most common mental retardation (1st is down syndrome)
- Area on long arm of X chromosomes breaks and gaps |
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Phenotype of Fragile X mental retardation
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long face, everted ears, large mandible, large testicles, high arched palate, hyperextensible joints, mitral valve prolapse
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Y - linked diseases:
- transmitted by who? |
only transmitted from male-to male
- female is not a carrier |
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Chromosome - Gene deletion
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- Lost DNA
- chromosome disorder - may cause severe consequences: loss of some ability in cell |
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Cri du chat syndrome traits (gene on chromosome 5)
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- low birth weight
- severe retardation - microencephaly |
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Inversions
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2 breaks in a chromosome and piece is replaced inverted
( it is switched ) |
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Translocations
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broken pieces of chromosome are exchanged (for other things)
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Plyploidy (multiples of 46)
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- usually not compatible with life
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Plyploidy (multiples of 46) : Triploidy
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3 of each chromosome
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Plyploidy (multiples of 46) : Teraploidy
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4 of each chromosome
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Aneuploidy
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cells that do not contain a multiple of 23 chromosomes
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Aneuploidy: ?monosomy
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only 1 copy of a chromosome (lethal except in sex chromosome)
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Aneuploidy: trisomy
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3 copies of one particular chromosome
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Trosomy 16
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most commonly found in miscarriage
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trisomy 21
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downsyndrome
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Downs Syndrome (trisomy 21) is most affected by what?
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the age of the mother giving birth
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Downsyndrome Diagnosis triple screen -
measures? |
measured at 15-20 weeks gestation may help diagnose
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what percent does the Downsyndrome Diagnosis triple screen -
measures? |
- only detects 60% of fetuses with Downs
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are there false positives in the down syndrome diagnosis triple screen?
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YES
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Down syndrome characteristics
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- flat nasal bridge
- epichantal folds (slant eyes) - malformed, low ear set - Simean crease in palms - short stature - shortened life-span |
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Trisomy of Sex chromosome: 3 X chromosome
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- no overt physical abnormalities
- possible sterility /menstraul irregularity |
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Trisomy of Sex chromosome: 4 or 5 X chromosomes
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severe retardation and physical abnormalities
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Vulnerability of birth?
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- first 2 weeks after conception - may not implant and results in spantaneous aborption or resorption (no period/have one)
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Vulnerability: rest of pregnancy
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damage is usually to function
- thigns such as smoke, radiation, drugs |
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Irradation
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avoid radiation in pregnancy
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Chemicals/drugs to avoid during pregnancy
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- mecury in fish
- cancer drugs - destroy rapidly producing cells (fetus) - cocaine (decreased placenta blood flow, not enough O2, short limbs, etc) - alcohol |
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Description of Cocaine babies
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- decreased placental blood flow, poor growth
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Fetal vasoconstriction of cocaine babies
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fetal abnormalities esp. GU tract, short limbs
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Folic Acid Deficiencies in babies
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- due to neural tube defects
- anencephaly/spinia bifida |
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Infectious agents - TORCH
- Toxoplasmosis - OTHER - Rubella - Cytomegalovirus - Herpes II |
- bacteria in uncooked meat can be transfered to baby
- do not get vaccenated while pregant |
