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87 Cards in this Set

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