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21 Cards in this Set

  • Front
  • Back
mutation
change in the nucleotide sequence of dna
base substitution
a single base in the dna sequence is changed to a different base
missense mutation
a single base in the dna sequence is changed to a different base, but this mutation may cause the wrong amino acid to be inserted during translation.
nonsense mutation
one or more base substitutions that will cause a premature stop codon to form in the middle of a mrna--prevents the synthesis of a functional protein
frameshift mutation
bases are inserted or deleted from the sequence causing a shift in the reading frame of the ribosome. may loose or gain amino acids, forming a different protein
mutagens
mutations can be spontaneous or caused b a mutagen--an agent that can cause mutations.--may be chemical or physical mutations-- the worst type of mutagen ia a teratogen.
genetic recombination
the insertion or deletion of gene segments to form new combinations of genes. usually insert genes but in vaccine development may delete pathogenic genes.
transformation
genes can be transferred from one bacterium to another--may or may not have a capsule--with capsule is pathogenic--dna that is released into the environment can be picked up by other bacteria and incorporated into the chromosome. a cell that is capable of uptaking dna fragment is said to be competent.
transformation does not occur in a lot of genera, but some are pathogenic
neisseria, streptococcus, stahpylcoccus, bacillus, acinetobacter
conjugation
exchange of plasmid dna between two bacteria, differs from transformation
1. requires cell to cell contact
2.the cells must be of opposite mating types(donor with plasmid, recipient without)
conjugation
gram - cells conjugate through formation of sex pillus- the fertility factor was the 1st plasmid observed to be transferred from one cell to another. donor with the f+ transfers the plasmid to recipients f- which then become f+
conjugation
gram + conjugate through formation of sticky surfae that causes cells to come in close contact.
transduction
bacterial dna is transferred to another cell by way of a bacteriophage, or phage, virus that infects bacteria--the phage carries genes that are introduced to the bacteriums when the phage infects it.the inserted dna segments are incorportated into the bacteriums genome and the genes are transcribed--also used in euk. cells-gene therapy
epidermolysis bullosa
missense mutations
rare genetic disease characterized by the presence of extermely fragil skin & recurrent blister formation, resulting from minor mechanical friction or trauma. the disorder occurs in every racial & ethnic group throughout the world & affects both sexes. there are three main forms of inherited EB. these different subtypes are defined by the depth of blister location within the skin layers, & the location of the dissolution of the skin.
sickle cell anemia
missense mutation
a blood disorder characterized by red blood cells that assume an abnormal rigid sickle shape. sickling decreases the cells flexibility & results in their restricted movement through blood vessels depriving downstream tissues of oxygen. the disease is chronic & lifelong, individuals are most often well but their lives are punctuated by periodic painful attacks and a risk of various other complications. life expectancy is shortened with older studies reporting an average life expectancy of 42 and 48 yrs for males & females alike.
als-lou gehrigs disease
missense mutation
a progressive usually fatal neurodegenerative disease caused by the degeneration of motor neurons the nerve cells in the cns that control vluntary muscle movement. as a motor neuron disease, the disorder causes muscle weakness & atrophy throughout the body as both upper & lower motor neurons degenerate, ceasing to send messages to muscles. unable to function the muscles gradually weaken develop fasciculations(twitches) because of denervation & eventually atrophy because of that denervation. the patient may ultimately lose the ability to initiate & control all voluntary movement except for the eyes.
beta thalassemia
nonsense mutation
an inherited autosomal recessive blood disease. the genetic defect results in the reduced rate of synthesis of one of the globin chains that make up hemoglobin. reduced synthesis of one of the globin chains can cause the formation of abnormal hemoglobin molecules, & this in turn causes the anemia which is the characteristic presenting symptom of the disease--found in meditteranean people
duchenne muscular dystrophy-dmd
nonsense mutation
severe recessive x linked form of muscular dystrophy that is characterized by rapid progression of muscle degeneration, eventually leading to loss in ambulation paralysis & death. this affliction affects 1 in 3500 males, making it the most prevalent of muscular dystrophies. in general males are only afflicted though females can be carriers-- mom carries & passes to son
cystic fibrosis
nonsense mutation
a hereditary disease affecting the exocrine(mucus) glands of the lungs, liver, pancreas, & intestines, causing progressive disability due to multisystem failure. thick mucus production results in frequent lung infections. diminished seceretion of pancreatic enzymes is the main cause of poor growth fatty diarrhea & deficiency in fat soluble vitamins. males can be infertile due to the condition congenital bilateral absence of the vas deferens. often symptoms of cf appear in ingancy and childhood
tay-sachs disease
frameshift mutation
a genetic disorder fatal in its most common variant known as infantile tay sacs disease. tsd is inherited in an autosomal recessive pattern. the disease occurs when harmful quantities of a fatty acid derivative called a ganglioside accumulate in the nerve cells of the brain. gangliosides are lipids, components of cellular membranes and the ganglioside gm2 implicated in tsd is especially common in the nervous tissue of the brain-jewish decent- blind, deaf, constant pain
familial hypercholesterolemia
frameshift mutation
a genetic disorder characterized by high cholesterol levels, specifically very high low-density lipoprotein(ldl-bad cholesterol) levels, in the blood & early cardiovascular disease