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Genetics Final
a little bit of everythingggg
143
Biology
Undergraduate 2
12/11/2010

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Term
The Bighorn sheep lost genetic variation due to what?
Definition
genetic drift
-the introduction of sheep from other populations
-decrease in population due to habitat destruction, competition with domestic animals, diseases, & trophy hunting
Term
What is genetic drift?
Definition
the chance tendency of one allele to become more frequent in the population, loss of genetic variation
Term
Is lots of homozygosity good or bad?
Definition
BAD
Term
Why is genetic diversity good?
Definition
it allows a population to adapt to changes in the environment
Term
In Peter Buri's experiment with the fruit flies, what did he conclude about the effect of genetic drift on the genetic composition of populations?
Definition
-as a result of genetic drift, allelic frequencies in different populations diverge and often become fixed for one allele or the other
-originally frequency: 0.5 to 0.5 (equal frequency)
-ending frequency: 1 to 0 (one fixed allele)
Term
What is a bottleneck effect?
Definition
when a population decreases and only a few alleles can pass through the tiny population, resulting in genetic drift and/or fixed alleles
Ex. Cheetahs (almost all identical)
Northern elephant seals
Bison
Term
What is a species?
Definition
a group of organisms that can interbreed in nature and produce fertile offspring
Term
What is a population?
Definition
the members of one species in the same location and time that interbreed and shuffle their genes together
Term
What is a gene pool?
Definition
-all the alleles of all the genes present in an interbreeding population
-through succeeding generations the pool is shuffled
-each new zygote "draws out" 2 copies of each gene locus
Term
What is population genetics?
Definition
the study of the genetic composition of populations, and how a population's collective group of genes changes over time
Term
What are Hardy and Weinberg credited with?
Definition
the idea and mathematical equation that formed the basis of population genetics
-p+q=1
Term
Is the Hardy-Weinberg Law actually a scientific law?
Definition
no, it is a model (a static baseline) to compare real life data against
Term
What does the Hardy-Weinberg law say?
Definition
The relative frequency of alleles of a gene tends to stay the same (at equilibrium) from generation to generation through time
Term
In the H-W law, what does p+q=1 represent?
What does p^2 + 2pq + q^2=1 represent?
Definition
-allelic frequencies
-genotype frequencies
Term
In the H-W law, what does the p^2 represent?
What does the q^2 represent?
What does 2pq represent?
Definition
-the homozygous dominant genotype
-the homozygous recessive genotype
-the heterozygous genotype
Term
In the H-W law, why must one multiple the heterozygote genotype (pq) by 2?
Definition
because there are 2 ways in which one could receive the heterozygous genotype from their parents
-"A" from mother and "a" from father-->Aa
OR
-"a" from mother and "A" from father-->Aa
Term
What assumption does the H-W law make, causing it to be a standard rather than a realistic law?
Definition
-large population
-mating is random
-not affected by mutation
-no migration
-no natural selection
Term
How can the H-W equilibrium be used?
Definition
like a null hypothesis to compare actual data to determine if a population is static
Term
When the H-W hypothesis is rejected, what does it often mean?
Definition
one allele is superior over the other allele for survival and reproduction, and that natural selecting is occurring
Term
What is the basis of microevolution?
Definition
changes in allele frequency
Term
What is heterozygote superiority?
Definition
Ex. sickle cell anemia
-when a person is homozygous, allele causes sickle cells
-however, the heterozygous individuals for the allele survive both malaria and sickle cell and reproduce
Term
What is inbreeding called and does it increase homozygosity or heterozygosity?
Definition
-consanguinity
-increases homozygosity
Term
What is evolution?
Definition
genetic change taking place in a population, what evolves is the gene pool
Term
What are the 2 steps to evolution?
Definition
1. mutation & recombination produce new alleles and combinations
2. new change may increase in frequency by chance genetic drift or by natural selection
Term
Are the traits that a species need what evolves?
Definition
NO-mutations are purposeless, natural selection determines which changes survive in a certain environment
Term
What are the advantages of molecular data?
Definition
-molecular data are genetic
-molecular methods can be used by all organisms
-molecular methods can be applied to a huge amount of genetic variation
-all organisms can be compared with the use of some molecular data
-molecular data are quantifiable
-molecular data often provide info about the process of evolution
-the database of molecular info is large and growing
Term
What is anagenesis?
Definition
evolution within a lineage with the passage of time
Term
What is cladogenesis?
Definition
the splitting of one lineage into two
Term
How can RFLPs be used to study evolutionary genetics?
Definition
can be used by comparing restriction sites among different individuals of a species to see the genetic structure of a population & assess the evolutionary relationships among organisms
Ex. African elephant-showed that elephant populations are genetically differentiated across Africa
Term
How can microsatellites be used to study evolutionary genetics?
Definition
microsatellites (STRs whose number of repeats are unique to individual organisms) can be amplified with PCR, then run through electrophoresis and banding patterns can be studied for genetic variation, genetic relationships, and population genetic differences
Ex. bighorn sheep-showed that sheep are actually getting smaller due to selective pressure on horn size for trophy hunters
Term
What is allopatric speciation?
Definition
speciation (process in which new species arise) by a geographic barrier that splits a population into 2 or more groups & prevents gene flow between them
-genetic differences are acquired over time due to selection, genetic drift, mutations
-Reproductive isolation mechanisms arise
-2 new species
Ex. Darwin's finches
Term
What is sympatric speciation?
Definition
speciation that arises in the absence of any geographic barrier, RIMs evolve in a single interbreeding population
-debatable
Ex. apple maggot fly
Term
How can speciation occur through polyploidy?
Definition
-typically arises when 2 diploid species hybridize, producing 2N hybrid offspring that are still fertile and reproduce
-numerous in angiosperms
Ex. European salt grass+American salt grass=S. anglica
Ex.
Term
What is a phylogenetic tree?
Definition
a graphical representation of the evolutionary relations among a group of organisms
Term
Prokaryote cell reproduction
Definition
-simple division: separation of replicated circular chromosome
-origin of replication
-high rate of replication
Term
eukaryotic cell reproduction
Definition
-homologous pair
-cell cycle
-genetic consequences
Term
centromere
Definition
attachment point for spindle microtubules
Term
telomere
Definition
tips of a linear chromosome
Term
How are metaphase chromosomes classified?
Definition
by the position of the centromere (metacentric, submetacentric, acrocentric, & telocentric)
Term
interphase
Definition
extended period between cell divisions, DNa synthesis and chromosome replication phase
Term
M phase
Definition
consists of mitosis and cytokinesis
Term
mitosis
Definition
separation of sister chromatids
Term
cytokinesis
Definition
separation of cytoplasm
Term
prophase
Definition
stage in mitosis in which chromosomes condense (each chromosome has 2 chromatids) & mitotic spindle forms
Term
prometaphase?
Definition
nuclear membrane disintegrates, spindle microtubules attach to chromatids
Term
metaphase
Definition
chromosomes line up on metaphase plate
Term
anaphase
Definition
sister chromatids separate and move toward opposite poles
Term
telophase
Definition
chromosomes arrive at spindle poles, nuclear membrane re-forms, chromosomes relax
Term
What are the genetic consequences of the cell cycle?
Definition
-2 new genetically identical cells
-new cells have full complement of cells
-each new cell contains app. half of cytoplasm and organelles from parental cell
Term
G1 phase
Definition
cell grows
Term
S phase
Definition
DNA replicates
Term
G2 phase
Definition
cell prepares for mitosis
Term
meiosis 1
Definition
separation of homologous chromosome paris and reduction of chromosome number by half
Term
meiosis II
Definition
separation of sister chromatids (equational division), very similar to mitosis
Term
prophase 1 of meiosis 1
Definition
synapsis, forming a tetrad, crossing over
Term
metaphase 1 of meiosis 1
Definition
random alignment of homologous paris of chromosomes along metaphase plate
Term
anaphase 1 of meiosis 1
Definition
separation of HOMOLOGOUS PAIRS (not sister chromatids like in mitosis & meiosis 2) and random distribute into cells
Term
What are the genetic consequences of meiosis?
Definition
-four cells from each original cell
-chromosome number reduced by 1/2 (haploid)
-new cells are genetically different from each other and parent
Term
cohesin
Definition
protein that holds chromatids together
Term
Hindus
Definition
-2,000 years ago
-made observations of genes changing over time, wrote on walls
Term
Greeks
Definition
began dissecting the brain, led to belief that brain was site of perception & semen, led to pangenesis
Term
pangenesis
Definition
people believe that certain particles carried genetic material to reproductive organs from which they are passed to offspring at conception
Term
inheritance of acquired characteristics
Definition
all characteristics that are gained during life are passed on
Term
Aristotle
Definition
keenly interest in heredity, rejected pangenesis and inheritance of acquired characteristics
Term
Romans
Definition
developed a # of techniques for plant and animal breeding, but little had to do with heredity
Term
R. Hooke
Definition
discovered cells in 1665, gave rise to preformationism
Term
Preformation
Definition
inside an egg or sperm is a tiny person that grows, all characteristics come from one person
Term
blending inheritance
Definition
no dominance or recessiveness, traits just blend
Term
N. Grew
Definition
-1676
-came up with idea that plants reproduce sexually using pollen, led to crossing plants and creating hybrids
Term
Cell Theory
Definition
-1800s
-3 Parts: 1) all life is composed of cells 2) cells arise only form preexisting cells 3) cell is fundamental unit of structure & function
Term
Germ-Plasm Theory
Definition
cells in reproductive organs carry a complete set of genetic info that is passed to the egg or sperm
Term
Sutton
Definition
-1902
-genes are located on chromosomes
Term
Morgan
Definition
-studied fruit flies and looks at mutations, which unraveled much of transmission genetics
Term
Watson & Crick
Definition
came up with DNA model in 1953
Term
Mullis
Definition
-1983
-developed a technique to look at pieces of DNA & make multiple copies of it (PCR)
Term
First complete DNA sequence of a free-living organism and in what year?
Definition
-Haemophilus influenza (italicized)
-1995
Term
Human genome sequenced?
Definition
-2003
Term
nullisomy
Definition
loss of both member so of a homologous pair (2n-2)
Term
monosomy
Definition
loss of 1 chromosome (2n-1)
Term
trisomy
Definition
gain of a single chromosome (2n+1)
Term
tetrasomy
Definition
gain of both members of a homologous pair (2n+2)
Term
autopolyploidy
Definition
extra SET of chromosomes all from a single species
Term
allopolyploidy
Definition
extra set from two species
Term
What are the 3 main types of chromosomal mutations?
Definition
-rearrangements
-aneuploids
-polyploids
Term
What 4 types of chromosomal rearrangements?
Definition
-duplication
-deletion
-inversion
-translocation
Term
What are the 4 types of aneuploidy?
Definition
nullisomy, monosomy, trisomy, and tetrasomy
Term
What are the 2 types of polyploidy?
Definition
-autopolyploidy
-allopolyploidy
Term
Mendel's Law of Segregation
Definition
states that each diploid organism contains 2 alleles for a gene and that a gamete receives one of the 2 alleles
Term
When do you use the multiplication rule for probabilities?
When do you use the addition rule?
Definition
-multiplication: 2 or more independent events, "and"
-addition: 2 exclusive events, "or"
Term
What type of individual to you cross with your unknown genotype in a testcross?
Definition
a homozygous recessive
Term
backcross
Definition
crossing a F1 genotype with one of the parental genotypes
Term
reciprocal crosses
Definition
crosses in which phenotypes of male and female are reversed
Ex. tall male w/short female & short male w/tall female
Term
Marshall & Warren
Definition
-1982
-proposed that peptic ulcers are caused by H. pylori
-won Nobel prize in 2005
Term
Lederberg & Tatum
Definition
-1946
-demonstrated that bacteria can transfer & recombine genetic info
-auxotrophs were mixed and a few were then able to grow on min. medium
-did not realize then that conjugation was taking place
Term
Bernard Davis
Definition
-followed Lederberg and Tatum's experiment
-u shaped tube with filter, no bacteria could pass
-concluded that bacteria must touch to exchange genetic info (conjugation)
Term
competent cells
Definition
cells that take up DNA through their outer membranes in transformation
Term
horizontal gene transfer
Definition
transfer of genes from one organism to another by a mechanism other than reproduction (such as transformation or transduction)
Term
E. coli
Definition
-first described by Theodore Escherich in 1885
-small genome: 1 chromosome, 4300 genes, 4, 638, 858 bp
-reproduces every 20 minutes
-easy to culture
-prototrophic, min. medium with glucose & inorganic salts
-reproduces through simple binary fission
-haploid genome makes mutations easy to isolate
Term
prophage
Definition
inactive phage that has been incorporated into bacterial DNA in the lysogentic cycle
Term
What are the 3 methods for mapping genes?
Definition
-interrupted conjugation
-transformation
-transduction
Term
retroviruses
Definition
RNA viruses capable of integrating into genomes of their host, uses reverse transcriptase
Term
provirus
Definition
DNa copy of viral DNA or RNA, integrated into host chromosome and replicated along with the host chromosome
Term
All retroviruses contain which 3 genes?
Definition
-pol
-gag
-env
Term
HIV/AIDS
Definition
-first recognized in 1982
-Robert Gallo: proposed AIDS is caused by retrovirus
-AIDS caused by 2 immunodeficiency viruses: HIV-1 & HIV-2
-attacks and destroys helper T cells
-people die from secondary infections
-9749 nucleotides long
-vaccine is hard to develop bc reverse transcriptase causes so many mutations that quick evolution occurs
Term
taxonomy
Definition
science of classification
Term
phylogenetics
Definition
study of evolutionary relationships
Term
Meischer
Definition
-1868-1869, extracted weakly acidic, phosphorous rich material from nuclei of leukocytes-->nuclein
Term
What are the 3 components of a nucleotide?
Definition
sugar (deoxyribose or ribose), phosphate, nitrogenous base (A,T,G,C)
Term
Avery, MacLeod, & McCarty
Definition
-discovered that DNA is the substance that undergoes transformation
-concluded this by using enzymes (protease, RNAse, DNAse) to destroy components, culture treated with DNAse did not transform so they concluded that DNA was transforming principle
Term
Avery, MacLeod, & McCarty
Definition
-discovered that DNA is the substance that undergoes transformation
-concluded this by using enzymes (protease, RNAse, DNAse) to destroy components, culture treated with DNAse did not transform so they concluded that DNA was transforming principle
Term
Hershey & Chase
Definition
-determined that the DNA-not protein-was the genetic material in bacteriophages
-labeled protein coat and DNA of bacteriophage with isotopes, let the phages infect E.coli and reproduce, and examined whether protein coat or DNA of progeny was radioactive
Term
Ashbury
Definition
came up with X-ray defraction
Term
Fraenkel-Conrat & Singer
Definition
found RNA was genetic material in a plant virus (Tobacco Mosaic Virus)
Term
What are purines and do they have a single or double ring structure?
Definition
A & G, double ring structure
Term
What are pyrimidines and do they have a single or double ring structure?
Definition
T & C, single ring structure
Term
What are the 3 forms of DNA? Briefly explain.
Definition
-B-DNA: most stable, predominate structure, plenty of water, right-handed structure
-A-DNA: exists if less water is present, right-handed structure, shorter and wider than B-DNA
-Z-DNA: left-handed, occurs in high salt solution
Term
hairpin structure
Definition
secondary structure of DNA that occurs when sequences of nucleotides on the same strand are inverted complements
Term
What were the 3 models initially proposed for DNA replication? Which is correct?
Definition
-semi-conservative replication (correct): 2 nucleotide strands separate, each serving as a template for new strands
-conservative: entire DNA molecules serves as template, original strand fully conserved
-dispersive: both strands break into fragments that are templates, and then reassemble
Term
Meselson & Stahl
Definition
determine that semiconservative replication is the correct model, used equilibrium density-gradient centrifugation to distinguish between heavy DNA and lighter DNA
Term
Theta replication
Definition
occurs in bacteria, unwinding of circular DNA, can occur in a bidirectional pattern
Term
Rolling-circle replication
Definition
occurs in F factor and some viruses, outside strand is broken and nucleotides are added using inside strand as template, not bidirectional
Term
What are the 5 types of eukaryotic DNA polymerase? Briefly explain the role of each.
Definition
alpha-makes RNA primer and then adds a few nucleotides
beta-does not participate in replication, involved in repair and recombination
gamma-replication and repair of mitochondrial DNA
-delta-leading & lagging strand synthesis, DNA repair, translesion DNA synthesis
-epsilon: leading strand synthesis
Term
initiator protein
Definition
binds to origin and separates strands of DNA to initiate replication
Term
DNA helicase
Definition
unwinds DNA at replication fork
Term
single-strand-binding proteins
Definition
attach to single strands once DNA is unzipped to keep it from going back together or form secondary structures
Term
DNA gyrase
Definition
causing nicks and reseals DNA to release torque that builds up from unwinding
Term
DNA polymerase III
Definition
main polymerase in bacterial cells, elongates nucleotide strand
Term
DNA polymerase I
Definition
polymerase in bacterial cells that removes RNA primers and replaces them with DNA
Term
DNA ligase
Definition
joins Okazaki fragments by sealing nicks
Term
transcription unit
Definition
-piece of DNA that encodes an RNA molecule and the sequences necessary for its proper transcription
-contains a promotor, RNA-coding region, and a terminator
Term
What five units make up the core enzyme (also called RNA polymerase) in bacterial cells?
Definition
-2 copies of alpha
-1 beta
-1 beta prime
-1 omega-not essential, just helps stabilize the enzyme
Term
sigma factor
Definition
a subunit involved in bacterial transcription that binds to the core enzyme, forming a holoenzyme, which allows it to bind to the promotor & start transcription
Term
pre-mRNA
Definition
the initial product of transcription in EUKARYOTIC cells only, then introns are spliced out and exons remain (mRNA)
Term
Of the 5 types of eukaryotic RNA polymerases, which is the main polymerase?
Definition
RNA polymerase II, transcribes the pre-mRNA
Term
What are the 3 main steps in transcription?
Definition
-initiation
-elongation
-termination
Term
basal transcription apparatus
Definition
transcription apparatus in eukaryotes, includes RNA polymerase (I,II,or III) and accessory proteins (instead of sigma factor)
Term
How does termination in eukaryotic cells using RNA polymerase II differ from prokaryotic termination?
Definition
-eukaryotic termination uses an enzyme (Rat1) to "chew up" the RNA molecule
-prokaryotic termination involves either Rho-dependent termination (Rho attaches to RNA and causes termination) or Rho-independent termination (terminates when a hairpin in RNA & then a string of U's is formed)
Term
What are the 3 consensus sequences found in bacterial promotor regions?
Definition
-10 consensus sequence (Pribnow box), -35 consensus sequence, and upstream element at -40 to -60 base pairs
Term
What consensus sequence does the core promotor in eukaryotic DNA contain?
Definition
TATAAA box and is located -25 to -30 bp upstream
Term
What is the regulatory promotor?
Definition
located immediately upstream of the core promotor in eukaryotic cells, transcriptional activator proteins bind and speed up transcription initiation
Term
A site
Definition
site on the ribosome where the tRNA arrives
Term
P site
Definition
site on the RNA where the polypeptide grows
Term
E site
Definition
exiting site for polypeptide
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