Term
| T/F: Mutations accumulate in all areas of the genome at the same rate. |
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Definition
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Term
| t/f: All mutagens are also carcinogens. |
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Definition
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Term
| Thalassemia is a disease due to mutations in the genes for _______. |
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Definition
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Term
| t/f: Mutations in somatic cells would show up in a pedigree analysis. |
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Definition
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Term
| Myotonic dystrophy is due to a type of _________ mutation. |
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Definition
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Term
| The Ames test is used to _________. |
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Definition
| determine mutagenic properties of a chemical |
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Term
| What type of mutations inserts a stop codon in an incorrect location in the coding sequence? |
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Definition
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Term
| Thymidine dimers are repaired by which of the following mechanisms? |
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Definition
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Term
| What mode of delivery removes cells from the body, treats them with gene therapy, and then reintroduces them back into the body? |
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Definition
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Term
| Gene therapy is most effect against ________ mutations in genes associated with _______ modes of inheritance. |
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Definition
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Term
| T/F: In gene therapy, the goal is to completely replace the defective gene with a copy of the new gene. |
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Definition
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Term
| T/F: The most effective method of delivering DNA to a cell, in terms of efficiency, is the use of liposome vectors. |
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Definition
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Term
| T/F: The use of viral vectors increases the risk of a severe immune response. |
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Definition
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Term
| What controls the activity of a neurotransmitter in a synapse? |
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Definition
number of receptors.
--- enzymes that degrade the neurotransmitter.
---activity of transporters |
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Term
| Most mood disorders, such as bipolar disorder and depression, are due to problems with which neurotransmitter? |
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Definition
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Term
| The FOXP2 gene is primarily associated with behavioral systems involving _______. |
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Definition
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Term
| Within the nervous system, where does the body actually process information by adding and subtracting chemical signals? |
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Definition
| the synapses between neurons |
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Term
| Which of the following is primarily a communication disorder? |
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Definition
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Term
| Which of the following disorders was first genetically researched in dogs, before using mice and human systems? |
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Definition
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Term
| In which of the following does the heritability change over time, with older individuals showing less of an environmental influence? |
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Definition
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Term
| T/F: Researchers now believe that sleep disorders are a cause of most behavioral problems. |
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Definition
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Term
| At the organismal level, tumor suppressor mutations act in a ___________ manner w/ regards to susceptibility, while at the cellular level they act in a _________ manner. |
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Definition
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Term
| p53 is an example of a ____________ gene/protein |
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Definition
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Term
| Fusion proteins most often belong to which of the following groups? |
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Definition
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Term
| T/F: our bodies contain special genes, called oncogenes, that are designed to cause tumors in tissues. |
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Definition
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Term
| What type of cancer may be inherited? |
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Definition
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Term
| t/f: In cancer cells, the telomerase enzyme is usually active. |
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Definition
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Term
| The generation of blood vessels to supply tumors w/ nutrients is called__________. |
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Definition
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Term
| T/F: BRCA 1 and BRCA2 are proto-oncogenes that are found only in breast cancer patients. |
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Definition
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Term
| T/F: Cancer is an example of a multifactorial trait. |
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Definition
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Term
| What is the real problem w/ behavior? |
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Definition
-partially genetic and environmental
--interaction b/t genes and environment
-hard to seperate Vg from Ve |
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Term
| t/f: most behaviors are polygenic |
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Definition
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Term
| Some neato facts about ADHD! |
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Definition
very much genetic (3-5x chance increase if sibling is affected)
--has to do with how Dopamine is used in brain
-- |
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Term
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Definition
Is the study of the nervous system (particularly the brain) variation and function.....
Neurophysiology and neuropharmacology |
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Term
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Definition
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Term
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Definition
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Term
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Definition
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Term
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Definition
| chemicals that communicate b/t neurons |
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Term
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Definition
disorder in communication.
--doesn't show up till 3 (same time as vaccines)
--deletion on chromosome 22 Q 13
--asperger syndrome is mild form of autism
--Foxp2 gene disruption is thought to be cause
--Individuals with fragile-X syndrome often develop autism |
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Term
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Definition
Without sleep animals die
The function remains unclear
Genetic contributions are indicated by heritability among families and identification of genes in model systems
Twin studies indicate 4 of the 5 stages of sleep have a hereditary component
Environmental influence is great |
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Term
| Narcolepsy with Cataplexy |
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Definition
--Daytime sleepiness with tendency to rapidly fall
asleep (narcolepsy) and periods of muscle
weakness (cataplexy)
--1999, first gene identified with sleep in dogs
----In Humans
1-2% risk with first degree relative
25-31% concordance among MZ twins |
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Term
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Definition
--Complex and variable trait subject to multiple genes and environmental influences and intense subjectivity
--Refers to ability to reason, learn, remember, synthesize, deduce, create
--IQ is normally distributed around a mean of 100.
below 50 severe mental retardation
50-70 mild mental retardation
85-115 average
above 115 above average |
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Term
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Definition
| Mood disorders represent the extremes of normal behavior. |
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Term
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Definition
| a neurotransmitter, can affect mood, emotion, appetite, and sleep |
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Term
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Definition
A disorder marked by the loss of the ability
to organize thoughts and perceptions
leads to a withdrawal from reality
1% of worldwide population is affected
Onset typically early adulthood
Progression of disorder:
Difficulty paying attention
Memory and learning skills affected
Psychosis (17-27 males, 20-37 females) delusions and hallucinations
-2.4 million usa starts around early 20's
-CoMt- dopamine
-triggered by stress and is #1 cause of suicide
-def a multifactorial trait |
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Term
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Definition
A group of diseases caused by loss of cell cycle control
Associated with abnormal uncontrolled cell growth |
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Term
| Timing, rate, and number of cell divisions depend on |
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Definition
Protein growth factors
Signaling molecules from outside the cell
Transcription factors within |
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Term
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Definition
| Cause cancer when inappropriately activated |
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Term
Tumor suppressor genes
`` |
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Definition
| Deletion or inactivation causes cancer |
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Term
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Definition
the protein and enzyme complex that adds telomere sequences to the ends of chromosomes
Presence of telomerase and telomeres allows cells to pass a cell cycle checkpoint and divide |
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Term
| Characteristics of cancer cells |
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Definition
-Divide continually (given space and nutrients)
-Contain heritable mutations
-Dedifferentiated: lose their specialized identity
-Different appearance: reflects dedifferentiation
-Lack contact inhibition
-Induce angiogenesis (local blood vessel formation)
-Increased mutation rate
-Invasive: squeeze into any space available
-Metastasize: move to new location in the body |
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Term
| A chemical _______ may stimulate differentiated cells to divide and produce progenitor cells in mice |
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Definition
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Term
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Definition
1) Cancer stem cells
2) dedifferentiation and reacquisition of self renewal.
3) Increase in proportion of stem and/or progenitor cells in tissue
4) Out-of-control tissue repair |
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Term
| Proto-oncogens are called ________ in their mutated form |
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Definition
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Term
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Definition
normal versions of genes that promote cell dividson
--Expression at wrong timee or in the wrong cell typ leads to cell division and cancer |
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Term
| How many copies of oncogenic mutation is sufficient to promote cell division> |
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Definition
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Term
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Definition
the double gene product that occurs when a proto-oncogene moves next to another gene and the gene pair is transcribed together
---Ex: chronic myeloid leukemia (CML) |
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Term
| more than 50% of human cancers involve an abnormal what? |
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Definition
p53 gene
-p53 acts as a cell cycle protein and determines if a cell has repaired DNA damge. if damage cannot be repaired then p53 induces apoptosis |
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Term
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Definition
a breast cancer susceptibility gene
-tumor suppressor gene
--increases risk of developing breaset and ovarian cancer
-lack of any functional BRCA1 leads to cancer cells |
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Term
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Definition
encodes for nuclea protein and functions in cytokinesis.
---increases risk of breast, ovarian, colon, prostate, pancreas, gallbladder, and stomach cancers (also melanomas) |
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Term
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Definition
| directly control mitosis and apoptosis |
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Term
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Definition
| control mutation rates and may have an overall effect, when mutatnt destabilizing the genome |
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Term
| t/f: cruciferous vegetables can lower cancer risk |
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Definition
| true! like brussel sprouts and broccoli |
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Term
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Definition
| alleles can move b/t populations when individuales migrate and marry |
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Term
| Difference b/t allelic and frequency |
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Definition
allelic = # of particularallel
-frequency = total # of alleles in the population |
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Term
| Difference b/t Microevolution and macroevolution |
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Definition
microevolution = genetic change due to changin allelic frequencies in populations
-macro evolution = the formation of a new species |
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Term
| hardy-weingberg equilibrium |
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Definition
Used algebra to explain how allele frequencies predicts genotype and phenotype frequencies in equilibrium
p = allele frequency of one allele
q = allele frequency of a second allele
[p^2 + 2pq + q^2 = 1.0]
--p^2 = % of homozygous dominant people
--q^2 = % homozygous recessive people
--2pq = % of heterozygotes |
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Term
| Some Facts about DNA profiling |
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Definition
=used alot in environmental protections
-small, small amounts of material can be used
-procedures were optimize following 9/11
-uses mitochondrial DNA (only 1 copy of mitochondrial DNA and can by easily traced throughout family history) |
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Term
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Definition
1)Ex vivo =gene therapy alters cells outside of body ---
2)In situ =gene therapy occurs in a localized area
3)In vivo= gene therapy vector is introduced directly into the body; most invasive |
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Term
| 2 vectors used to deliver gene therapy |
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Definition
1) liposomes - series of phospholipids that receive genes (doesn't get immune response but doesn't work alot b/c cell doesn't want it)
2) Viruses -gene is put in viruse DNA which attacs body. most viruses are very specific in attack but immune system hates it. |
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Term
| which vector for gene therapy is used the most and why? |
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Definition
viruses are the most uesed (unless immune system is compromised)
-viruses have small genomes and target specific host cells |
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Term
| What was the first gene therapy? |
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Definition
Adenosine deaminase deficiency was first inherited disease treated w/ gene therapy.
ADA is an enzyme involved with purine metabolism |
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Term
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Definition
It is caused by a defect in a gene that encodes an ion transport protein
This leads to an abnormality in salt and water balance
This, in turn, leads to accumulation of mucus in the lungs
The result is chronic lung infections which prove fatal |
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Term
| T/F: aerosol sprays may be used to treat cystic fibrosis |
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Definition
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Term
|
Definition
| change of a single nucleotide to one of the other 3 possible nucleotides |
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Term
|
Definition
| point mutation that exchanges one codon for another causing substitution of an amino acid |
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Term
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Definition
point mutation that changes a codon for an amino acid into a stop codon
--this creates a truncated protein |
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Term
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Definition
--made by nonsense mutation
--these are often nonfunctional
--some truncations have dominate effects due to interferences w/ normal functions |
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Term
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Definition
insertion of triplet repeats leads to extra amino acids
--the larger expanding the earlier the onset and the more servere the disorder |
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Term
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Definition
--myotonic dystrophy
-2 types : MDD1 and MDD2
-50-1000 repeats of some thing genetic
-muscles can't contract or relax
-genes w/ 40 + copies are unstable and can gain repeat copies in successive generations |
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Term
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Definition
--Mutations in presenilin1 cause early onset autosomal dominant Alzheimer disease
--
Presenilin protein is a receptor anchored in the Golgi membrane
--Monitors beta amyloid usage
--30+ missense mutations in presenilin result in beta amyloid accumulation. |
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Term
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Definition
60% of protein in bone and cartilage
-
--Has a precise structure:
triple helix of two alpha1 and one alpha2 proteins
the longer precursor called procollagen is trimmed to form collagen |
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Term
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Definition
aka spontaneous mutations
--not caused by exposure to known mutagen
--errors in DNA replication
--DNA bases have slight chemcial instability (exists in alternating forms called tautomers) |
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Term
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Definition
1) Short repetitive sequences (pairing of repeats may interfere w/ replication or repair enzymes)
2) Palindromes - (often associated with insertions or deletions)
3)Duplications of larger regions (mispairing during meiosis) |
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Term
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Definition
| its an in vitro test of the mutagenicity of a substance using Salmonella bacteria w/ mutation in gene for histidine |
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Term
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Definition
a DNA sequence reminiscent of a gene but which is not translated (may or may not be transcribed.)
--pretty much a false gene
--comes from duplications |
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Term
|
Definition
| occurs when enzymes detect nucleotides that do not base pair in newly replicated DNA |
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Term
|
Definition
| damaged DNA is removed by excision of the bases and replacement by a DNA polymerase |
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