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87 Cards in this Set
- Front
- Back
Tay-Sachs
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inherited lysosomal storage disorder, prevalent in Oshkenazi Jews, Fatty material supposed to be broken down by lysosome disorder, excess fatty material bocks pathway for nerve transmission.
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Muscular Dystrophy
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muscle cells deteriorate stems from a protein dystrophin either too little or not enough produced.
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Hereditary Spherocytosis
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disturbs the interface between the plasma membrane and the cytoskeleton in red blood cells. Ankyrins are abnormal and parts of the redblood cell plasma membrane disintegrate. Anemia develops as the spleen destroys RBCs faster than the marrow can reproduce them.
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Adrenoleukodystrophy (ALD)
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inherited disease that disrupts the breakdown of certain fatty acids. Fatty acid accumulates in brain tissue and along the spinal cord. Skin darkens irregular heartbeat.
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Epidermolysis Bullosa (EB)
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skin layers are not attached correctly resulting in easy bruising, can be fatal.
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Genetics
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the study of inherited variation
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Gene
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a sequence of DNA that instructs a cell to produce a particular protein.
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Phenotype
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the expression of a gene in traits or symptoms.
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Genotype
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the allele combinations in an individual that causes particular traits or disorders.
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Autosome
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a chromosome that does not have a gene that determines sex.
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Sex-Chromosome
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a chromosome that containing genes that specify sex.
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Diploid
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a cell containing two sets of chromosomes.
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Haploid
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a cell with one set of chromosomes.
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Telomere
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a chromosome tip.
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Embryo
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in humans, prenatal development until the 8th week when all basic structures are present.
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Fetus
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the prenatal human after the eighth week of development, when structures grow and specialize.
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Dominant
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a gene variant expressed when present in one copy.
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Recessive
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an allele whose expression is masked by another allele.
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Organelle
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specialized structure in a eukaryotic cell that carries out a specific function. I.e.-mitochondria-releases energy from nutrients, participates in cell death.
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Endoplasmic Reticulum
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membrane network rough and smooth rough=lysosomes, site of protein synthesis, and folding ; lipid synthesis.
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Golgi Apparatus
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stacks of membrane enclosed sacs, site where sugars are made and linked into starches or joined to lipids or proteins.
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Lysosome
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sac containing digestive enzymes, degrades debris, recycles cell contents.
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Mitochondrion
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two membranes; inner membrane enzyme studded, releases energy from nutrients, participates in cell death.
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Nucleus
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porous sac containing DNA, separates DNA within a cell.
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Peroxisome
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sac containing enzymes, breaks down and detoxifies various molecules
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Ribosome
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two associated globular subunits of RNA and protein, scaffold and catalyst for protein synthesis.
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Vesicle
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membrane bound sac, temporarily stores or transports substances.
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Inborn Error of Metabolism IEM
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broad category of metabolic disorders, removal of one gene, one enzyme can stop the process and generates the accumulation of excess of one type.
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Internal factors ref. Cell growth
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cyclins, and kinases turns on genes that trigger mitosis.
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External Factors ref. Cell growth
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crowding, hormones, and growth factors.
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Interphase=
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not dividing
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Metaphase
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dividing
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Genome
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complete set of genetic information for a particular organism.
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somatic cell
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a non-sex cell, with 23 chromosomes in humans
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germinal cell
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egg or sperm cell which have one copy of the genome.
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haploid number
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number of chromosomes present in a gamete.
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diploid number
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number of chromosomes present in a normal body cell (46 humans)
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mitosis stage which replicated chromosomes line up along equatorial plate
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metaphase
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sister chromatids separate
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anaphase
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what is the purpose of mitosis
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generate cell division facilitating growth and repair.
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chromatin
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DNA and proteins loosely arranged, cant pick out DNA
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Chromosome
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DNA and proteins coiled, condensed, "visible DNA"
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diploid
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cell having two sets of chromosomes, two copies of a genome
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diploid number
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number of chromosomes resent in a normal body cell (46 for humans)
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prophase
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before, chromatin condense, nuclear membrane disappears
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metaphase
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chromosomes line up along equatorial plate.
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anaphase
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centromeres divide, chromatids pull apart no more sister chromatids.
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telophase
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FIN-cell divides into 2 cells
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apoptosis
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a form of cell death that is a normal part of growth and development
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polar spindle fibers
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don't actually attach, facilitates separation of chromosomes, egg shape
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kintechore spindle fibers
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attach microtubules, shortening and breaking off/reeling in.
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cytoskeleton function
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a framework of protein tubules and rods that supports the cell and gives it a distinctive form.
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what is signal transduction
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molecules on the plasma membrane assess, transmit, and amplify incoming messages to the interior.
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metaphase
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chromosomes line up along equatorial plate.
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anaphase
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centromeres divide, chromatids pull apart no more sister chromatids.
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telophase
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FIN-cell divides into 2 cells
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apoptosis
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a form of cell death that is a normal part of growth and development
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polar spindle fibers
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don't actually attach, facilitates separation of chromosomes, egg shape
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kintechore spindle fibers
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attach microtubules, shortening and breaking off/reeling in.
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cytoskeleton function
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a framework of protein tubules and rods that supports the cell and gives it a distinctive form.
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what is signal transduction
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molecules on the plasma membrane assess, transmit, and amplify incoming messages to the interior.
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metaphase
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chromosomes line up along equatorial plate.
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anaphase
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centromeres divide, chromatids pull apart no more sister chromatids.
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telophase
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FIN-cell divides into 2 cells
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apoptosis
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a form of cell death that is a normal part of growth and development
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polar spindle fibers
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don't actually attach, facilitates separation of chromosomes, egg shape
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kintechore spindle fibers
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attach microtubules, shortening and breaking off/reeling in.
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cytoskeleton function
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a framework of protein tubules and rods that supports the cell and gives it a distinctive form.
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what is signal transduction
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molecules on the plasma membrane assess, transmit, and amplify incoming messages to the interior.
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cytoskeleton
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a framework of protein tubules and rods that supports the cell and gives it a distinctive form
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signal transduction
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Molecules on the plasma membrane assess, transmit, and amplify incoming messages to the cells interior
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induced pluriponent stemcells
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take specialized human cell then treat it with right chemicals to regress to pluripotent cells
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pluripotent
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can give rise to a variety of cell types (embryonic stem cells)
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totipotent
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can give rise to every type of cell (fertilized ovum)
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where do embryonic stem cells come from?
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5 day old embryos from fertility clinic, removed stemcells and had them undergo mitosis.
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cord blood is better than bone marrow for stem cells because...
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you don't need specific cord blood like you do with bone marrow
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homozygote
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having two identical alleles of a gene.
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heterozygote
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having two different alleles of a gene
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allele
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an alternative of (variant) form of a gene
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homologous chromosome
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chromosomes with the same gene sequence.
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mitosis
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genetically identical
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meiosis
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genetically different
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meiosis
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used for sexual reproduction, producing new gene combinations, cell division that halves the number of chromosomes to form haploid gametes.
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spermatogenesis
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formation of sperm cells, divides mitotically yielding two daughter cells, limitless amount of sperm
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oogenesis
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limitless, not attached, cells of different sizes
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monozygotic twin
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identical, 1 fertilized ovum
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dizygotic twin
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2 fertilized ovum, two different sperm two different eggs, related but not identical like monozygotic
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