Term
Plants which consistently have offspring with same trait as parent are ___. |
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Definition
True breeding or Homozygous |
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Term
What is the name for crossing true breeding plants with two distinct forms of a trait? What is the result of this? |
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Definition
Monohypbrid Cross (Heterozygous): progeny only show one form of the trait |
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Term
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Definition
Plant with recessive trait is crossed with plant of unknown genotype. |
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Term
Describe the progeny of a monohybrid cross. |
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Definition
1/4 Dominant - True breeding; 1/2 Dominant - Not true breeding; 1/4 recessive
3:1 dominant to recessive |
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Term
What are the two parts of the law of probability? |
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Definition
1. probability that multiple independent events will occur together is the product of their chances of happening separately
2. chance an event can occur in multiple independent ways is the sum of the individual chances |
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Term
What state that each organism possesses two distinct separable units (alleles) for each trait inhetited from each parent? |
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Definition
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Term
What state that each organism possesses two distinct separable units (alleles) for each trait inhetited from each parent? |
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Definition
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Term
What is another name for Mendel's units or elementum? It is also defined as versions of the same gene that differ in DNA sequence at one or more sites. |
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Definition
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Term
What indicates the combination of alleles present in an organism? |
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Definition
Genotype: Homozygous (same alleles) & Heterozygous (different alleles) |
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Term
What indicates the trait observed? |
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Definition
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Term
What is the most common phenotype called? |
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Definition
Wildtype; wildtype allele=most frequent allele |
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Term
What indicates the patterns with which the mutant phenotype is associated? What are the three most common types? |
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Definition
Mode of Inheritance; Autosomal Recessive, Autosomal Dominant, & X-linked Recessive |
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Term
What mode of inheritance is described by these characteristics? Heterozygotes exhibit affected phenotype, males & females equally affected and may transmit the trait, and affected phenotype does not skip generations. |
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Definition
Autosomal Dominant Inheritance |
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Term
What mode of inheritance is characterised by these statements? Heterozygotes carry allele but don't exhibit it, males & females equally affected and may transmit the trait, and may skip generations. |
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Definition
Autosomal Recessive Inheritance |
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Term
What states that two genes on different chromosomes segregate their alleles independently? |
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Definition
Law of Independent Assortment (inheritance of one allele doesn't influence inheritance of another) |
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Term
What is a symbolic representation of family relationships and inheritance of a trait? |
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Definition
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Term
What is a structure that consists primarily of DNA & proteins that are duplicated & transmitted during mitosis or meiosis? |
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Definition
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Term
Distinguish between Heterochromaticn & Euchromatin. |
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Definition
Heterochromatin stains dark, noncoding
Euchromatin stains light, protein coding |
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Term
What are the three locations you find centrosomes on the chromosome? |
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Definition
Metacentric=middle, Acrocentric=close to end, Submetacentric=off center, Telocentric=end |
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Term
What are the two arms of a chromosome? |
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Definition
P arm = short arm & Q arm = long arm |
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Term
What is the basic unit of chromatin? What does it consist of? |
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Definition
nucleosome; 146bp DNA & 8 histones |
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Term
Which histone helps compact nucleosome into 30nm fiber? |
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Definition
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Term
What is a critical determinant of chromatin structure? |
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Definition
Histone tails; methylation & acetylation leads to genomic imprinting & regulation |
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Term
What does a normal karyotype consist of? |
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Definition
23 diploid chromosomes; 46 total chromosomes |
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Term
What is the term for a cell missing a single chromosome or having an extra one? |
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Definition
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Term
What is the term for cells that contain a normal chromosome constitution? |
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Definition
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Term
How are chromosomes ordered on a Karyotype? |
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Definition
by size & centromere position |
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Term
What states that modifications of the histone tails act as marks that can be read by other proteins to control the expression or replication of chromosomal regions? |
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Definition
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Term
What is described as heritable changes not caused by mutation in the DNA? |
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Definition
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Term
What is genomic imprinting? |
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Definition
Each parent passes on a gene for a trait, but only one is expressed. The other is "imprinted" ie. Barr Bodies |
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Term
What disease is caused by a defect in imprinting & causes kidney tumors in children? |
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Definition
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Term
What leads to gene silencing? |
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Definition
Methylation of C residues in CpG island |
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Term
What disease is caused by a DNA methylation problem? |
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Definition
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Term
What is at the tips of chromosomes and what sequence do you find here? |
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Definition
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Term
What chromosomal part is found between the protein-rich areas and the telomeres? |
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Definition
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Term
T/F Subtelomeres do include some protein-coding genes? |
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Definition
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Term
What is the location where spindle fibers attach to the centromere? |
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Definition
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Term
What technique uses DNA probes that are complimentary to specific base sequences? |
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Definition
FISH (Flourescence in situ Hydrogenation) |
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Term
What subdiscipline within genetics focuses on chromosome variations? |
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Definition
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Term
What disease is a trisomy of chromosome 21? What about XO and XXY? |
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Definition
Trisomy 21=Down's, XO=Turner (female), XXY=Klinefelter (male) |
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Term
What are the three most common trisomy chromosomes? What do they have in common? |
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Definition
13 (Patau), 18 (Edward), & 21(Down); have lowest gene densities |
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Term
What is the term for an extra chromosome set? What causes this? |
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Definition
Polyploidy; 2 sperm fertilizing one egg or haploid sperm fertilizing diploid egg |
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Term
What is the term for having a segment of the chromosome reversed? |
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Definition
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Term
What is the term for two chromosome arms exchanged in part or entirely? |
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Definition
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Term
What is a chromosome with identical arms? |
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Definition
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Term
What causes a ring chromosomes? |
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Definition
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Term
What is a common cause of aneuploidy resulting in a gamete with one extra chromosome & another with one missing chromosome? How do the results differ between the 1st and 2nd meiotic anaphase division? |
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Definition
Nondisjunction; 1st - copy of each homolog in gamete & two cells with no copies; 2nd - both sister chromatids in one gamete, one with no copy, and two normal cells (better of the two scenarios) |
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Term
What does nondisjunction cause? |
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Definition
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Term
What is the term for different nonhomologous chromosomes that exchange portions of chromosomes or combined parts? |
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Definition
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Term
What describes chromosomes that have a region flipped in orientation compared to wild type chromosomes? What are the two types? |
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Definition
Inversion
Paracentric: inverted region doesn't include centromere
Pericentric: inverted region includes centromere |
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Term
In what two ways can mutation occur at the molecular level? |
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Definition
1. Substitutin one DNA base for another 2. Adding or deleting bases |
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Term
The mutation of what protein prevents people from being infected with HIV? |
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Definition
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Term
Does mutation refer to genotype or phenotype? What about mutant? |
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Definition
Mutation=Genotype Mutant=Phenotype |
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Term
What is a mutation that does not alter the phenotype? |
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Definition
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Term
T/F A mutatuion produces individuals with variant phenotypes who are better able to survive in a specific environment. |
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Definition
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Term
What type of mutation is limited to an individual and not transmitted to offspring? |
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Definition
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Term
What type of mutation have the possibility of transmission to offspring? |
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Definition
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Term
Describe the mutation in red blood cells that leads to Sickle Cell Anemia. |
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Definition
T in DNA anti-sense strand is changed to A = Glu is changed to Val |
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Term
What is the result of a beta hemoglobin mutation that results in too few protein molecules? |
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Definition
Thalessemia (homozygous mutation has more severe phenotype than heterozygous) |
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Term
What comprises 60% of bone & cartilage? What is it's structure? |
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Definition
Collagen; two α1 helices and one α2 helix |
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Term
Mutation in what protein is responsible for Alzheimer disease? Where is this protein found & what is it's function? |
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Definition
Presenilin 1; anchored in Golgi membrane, monitors beta amyloid usage (accumulation placques form) |
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Term
What are the four main characteristics of Spontaneous mutation? |
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Definition
1. De novo or new 2. Not caused by exposure to known mutagen 3. Errors in DNA replication 4. DNA bases have slight chemical instability |
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Term
Spontaneous mutations can produce slightly changed ____s which cause problems for the enzymes that are trying to recognize the sequence. |
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Definition
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Term
What is the mutation associated with Familial hyperchlesterolemia? |
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Definition
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Term
What mutation is associated with Hemophilia A? |
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Definition
absent or deficient Factor VIII protein |
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Term
What three things is spontaneous mutation rate dependent on? |
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Definition
1. Size dependence 2. Sequence dependence 3. Hot spots |
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Term
T/F Most mutations are in coding regions of genes. |
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Definition
False; most are in noncoding regions |
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Term
What are the three mutational hot spots, and what is their source? |
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Definition
1. Short Repetitive Sequence: pairing of repeats may interfere w/replication or repair enzymes
2. Palindromes: associated w/insertions or deletions
3. Duplications of Larger Regions: mispairing during meiosis |
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Term
What are two major causes of insertions or deletions? |
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Definition
Hairpins & Non-Reciprocal Recombination |
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Term
What chromosome is effected by alpha thalassemia? What are the effects of different numbers of this chromosome? |
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Definition
16; 4=normal, 3=considered normal, 2=mild anemia, 1=severely anemic |
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Term
What is the term for a chemical that causes mutation? |
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Definition
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Term
What is the term for chemicals that cause cancer? |
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Definition
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Term
Which mutation inducer causes removal of a DNA base that is replaced with a mismatch pair? |
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Definition
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Term
Which mutation inducer addes or deletes a single base? |
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Definition
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Term
Which mutation inducer alters base pairs so that A-T replaces G-C or vice versa? |
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Definition
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Term
Which mutation inducer deletes a few bases or breaks chromosomes? |
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Definition
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Term
T/F Ames is an in vivo test of mutagenicity of a substance using Salmonella bacteria with a mutation in a gene. |
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Definition
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Term
What amino acid is involved in the mutation used in the Ames test? |
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Definition
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Term
Describe the least penetrating radiation exposure. |
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Definition
Alpha; least energetic, shortest-lived, absorbed by skin; Uanium & radium |
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Term
Describe the second most penetrating radiation. |
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Definition
Beta; tends not to harm unless eaten or inhaled; tritium, C-14, & strontium-70 |
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Term
Describe the most penetrating type of radiation. |
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Definition
Gamma; goes all the way through body, kills cancer cells; plutonium & cesium |
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Term
Mutations in what types of cells can cause cancer? |
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Definition
Oncogenes or Tumor Suppressor Genes |
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Term
What type of mutation is caused by a change of a single nucleotide to one of the other three possible nucleotides? |
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Definition
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Term
Differentiate between a Transition and a Transversion. |
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Definition
Transition: Purine replaces Purine or Pyrimidine replaces Pyrimidine
Transversion: Purine replaces Pyrimidine or vice versa |
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Term
What is a point mutation that exchanges one codon for another causing substitution of an amino acid? |
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Definition
Missense Mutation (ie. Sickle Cell) |
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Term
What type of mutation has a change in amino acid from a normal codon to a premature stop codon? |
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Definition
Nonsense mutation (ie. Becker muscular dystrophy or Ehlers-Danlos) |
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Term
What type of mutation alters a site where introns would normally be removed from mRNA? |
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Definition
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Term
What is the term for a particular form of insertion in which identical sequences are found side by side? |
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Definition
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Term
What is the term for a DNA sequence reminiscent of a gene but isn't translated? Can it be transcribed? |
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Definition
Pseudogenes; may or may not be transcribed |
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Term
What phenomena is described as expansion of the triplet repeat and coincident increase in severity of phenotype occuring with subsequent generations? |
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Definition
Anticipation (ie. Myotonic dystrophy) |
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Term
T/F Different mutations may cause the same disorder. |
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Definition
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Term
T/F All mutations impact protein function. |
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Definition
False; Silent Mutations don't alter AA sequence because they form Synonymous Codons |
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Term
What type of mutation only produces a phenotype under particular conditions? |
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Definition
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Term
What number of bases can be replaced by Nucleotide & Base Excision Repair? |
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Definition
Nucleotide: <30 Base: 1-5 (ie. Xeroderma Pigmentosa) |
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Term
What occurs when enzymes detect nucleotides that do not base pair in newly replicated DNA? How is it detected? |
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Definition
Mismatch Repair; Proofreading |
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Term
What protein monitors repair of damaged DNA? |
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Definition
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Term
What is a group of diseases caused by loss of cell cycle control? |
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Definition
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|
Term
What type of tumer grows in place? What type invades nearby tissues? |
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Definition
Benign=stationary, Malignant=invasive |
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Term
T/F More often cancer-causing mutations occur in somatic cells & is a genetic disease at the whole-body level. |
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Definition
False; they are usually somatic cells, but it works at the cellular level not the whole-body |
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Term
Loss of control over what portion of the chromosome can contribute to cancer? |
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Definition
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Term
T/F Germline inherited cancers must have a second mutation in the somatic cell to spark cancer in the body. |
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Definition
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Term
What are two unique characteristics of cancer cells? |
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Definition
Rounder (doesn't adhere to normal cells) & plasma membrane is more fluid |
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Term
What is secreted by tumor cells that are starved for Oxygen? |
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Definition
Vascular Endothelial Growth Factor - stimulates capillaries to extend branches toward tumor |
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Term
Are Proto-oncogenes normal cells or mutated cells? |
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Definition
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|
Term
Can oncogenes effect viral & transcribing genes nearby? |
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Definition
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|
Term
T/F Reciprocal translocation produces two different fusion genes. |
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Definition
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|
Term
Is phosphorylation normally present in cancer cells? |
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Definition
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|
Term
What type of gene normally stops cells from dividing? |
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Definition
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Term
What states that two mutations, one in each copy of the RB gene, are required to cause a phenotypic result? |
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Definition
Knudson's Two Hit Hypothesis |
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Term
What is the breast cancer susceptibility gene, and how does it function? |
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Definition
BRCA1; one mutation is inherited & a second must be acquired at the cellular level |
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Term
What is described as a change in one gene can compensate for the mutation in another, could be the result of epigenetics? |
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Definition
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|
Term
What are the three environmental impacts of cancer? |
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Definition
Exposure to carcinogens, Exposure to radiation, and Variation in diet |
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|
Term
What type of vegetables can lower cancer risk? |
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Definition
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|
Term
What are the 5 treatments for breast cancer? |
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Definition
Remove tissue, Destroy tissue, Use phenotype to select drug, Use genotype to select drug, Genomic level |
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Term
What four properties of DNA are most genetic technologies based on? |
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Definition
1. DNA can be cut at specific sites
2. Different lengths of DNA can be size-separated by electrophoresis
3. Single strand of DNA will stick to its complement
4. DNA can be copied by a polymerase enzyme |
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|
Term
T/F Most recognition sites where restriction enzymes cut are palindromes. |
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Definition
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Term
What charge does DNA have? Describe it's movement on a gel. |
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Definition
Negative; moves toward positive electrode, shorter lengths move faster |
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Term
What are the two methods for analyzing the way in which DNA sticks to its complement? |
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Definition
PCR and Southen Blotting (slow & requires large amount of DNA) |
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Term
What is a method for producing large quantities of a specific region of DNA from tiny quantities? |
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Definition
Polymerase Chain Reaction (PCR); requires much less DNA than Southern Blotting |
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Term
What DNA polymerase can copy DNA? |
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Definition
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Term
What are the possible samples for PCR? Do they have to be pure? |
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Definition
hospital tissue, single hair, dried blood, mummified tissue, frozen tissue; No-can be pure or impure |
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Term
What method uses mRNA as a marke of gene expression? What is it used for? |
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Definition
Microarrays; measure differences in gene expression between two cell types or to study chromosomal aberrations in cancer cells (diagnose & stage tumors) |
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Term
What are the problems with microarray analysis? |
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Definition
Gene expression≠mRNA concentration, Difficult to interpret, Standardization b/w labs, Lots of noise, Lots of genes, Low sample size |
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