Genetics Exam 4 Review

Front 1

The Human Genome Project

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the DNA sequences of all human chromosomes

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Cutting DNA into many short segments, sequencing each seqment, and then
assembling the complete sequence by computer analysis of overlapping segments is:

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Shotgun sequencing

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Quantitative traits are typically controlled by

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Many genes, each having a small effect

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If height of humans is almost totally determined by environmental effects such as
nutrition and health, you would say height is:

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Lowly heritable in the broad sense

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If tall people usually have tall children, you would say height is

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Highly heritable in the narrow sense.

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In dideoxy sequencing, which nucleotides would be used in the solution for the
ddA lane

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ddA, dA, dT, dG and dC

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You use dideoxy (dd) nucleotide sequencing to determine the sequence of the
following single DNA strand: 5’ CCCCCGTA 3’. Your sequencing gel has:

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Lots of bands in the ddG lane, near the top of the gel.

Front 8

When chromosome segments are sequenced to determine the order of nucleotides,
what type of map is produced?

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Restriction map

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What is an SNP?

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a single base difference between individuals at a certain location

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Microarray

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allow many individuals to be tested simultaneously, or an individual to be
tested for many genes at once.

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The genetics of model organisms are studies because

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many genetic sequences are conserved across species
- human gene function can be studied without unethical conduct
-- evolutionary relationships among species may be described
--model organisms may reproduce more rapidly

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What species have had their genomes sequenced

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a few important agricultural species
several model species
humans

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PCR is a process to

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quickly make many copies of DNA fragment without cloning

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PCR uses special enzyme that

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remains stable at high temperatures

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How is recombinant DNA tech used to produce products like human insulin and bovine growth

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The gene humans or cows use to make this product is inserted into bacteria, which produce the product

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What is an RFLP

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A site where organisms vary in their DNA sequence, so that when DNA are cut with the same restriction enzyme, varying fragment lengths are produced

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What is a microarray used for

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to provide information about the expression of thousands of genes

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A symmetrical bell shaped distribution found in nature is called

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Normal distribution

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If a trait is highly heritable

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Parents and offspring resemble eachother

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Polymerase Chain Reaction (PCR)

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a method for producing an extremely large number of copies of a specific DNA sequence without cloning

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probes

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hybridize with DNA strands, after the strands are separated while still in the cell.used to view location of mRNA strand.

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DNA footprinting

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DNA fragments are randomly cut in the presence and
absence of binding proteins (transcription factors, etc.).Bound sequences are not cut, so locations never cut in the presence of binding proteins are the binding sites

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Mutagenesis

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study of gene function by creating mutations at specific
locations, and studying their effects

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transgenic rice

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“Golden Rice” is a transgenic rice that contains Vit A which is
deficient in many cultures where rice is the primary foodstuff

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Genetic engineering has the potential to:

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decrease herbicide and pesticide use
- increase yields, lowering cost of production and reducing amount of land used
- adapt plants and animals to less than ideal environments

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Gene Therapy

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direct transfer of genes to treat disease

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Be able to read a RFLP and determine paternity

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see example on practice exam

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Variable Number of Tandem Repeats
(VNTRs)

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VNTRs are more specific because they determine how many repeats an organism has at a location, compared to typical RFLPs that
determine whether or not a person has a certain sequence

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Structural Genomics

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sequencing and understanding the content of genomes
building of genetic and physical maps of the chromosomes

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Linkage maps

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low resolution, requires observable phenotypic effects
recombinant and parental map untis like we did in chap 5

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Restriction mapping

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determines the relative position of restriction sites, cutting with a single restriction enzyme or different/ both

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Be able to determine where EcoRI and HindII cut with given fragment lengths

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example in notes and on sample exam

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Understand how Dideoxy DNA sequencing works, how to read each lane

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see examples in class and practice exam

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DNA marker

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a genetic marker detected using molecular tools that focus on the DNA itself
rather than on the gene product or associated phenotype

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Examples of DNA markers

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RFLP
Repeated sequences: VNTRs (repeats of five of more bases)
microsateliites (1-4 bases)
or SNPS

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Functional Genomics

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analysis of genomic sequences, describing the functions of genes

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Gene Knockout

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create a severe mutation (usually deletion) as see the effect

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transcriptome

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a set of all mRNA transcripts in a cell (at a given time, under certain
circumstances

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proteome

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a set of all proteins in a cell

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Quantitative Genetics

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Inheritance of continuous traits

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Continuous traits

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exhibit many phenotypes, over a continuous range, under control of many loci, environmental effects often effect phenotype

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Qualitative genetics

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inheritance of discontinuous traits

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Discontinuous traits

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exhibit only a few distinct phenotypes and under the control of one or few loci

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Population

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the group we are ultimately interested in

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Sample

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a subset of the population, used to give information about the population

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variance

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a measure of how much the individual measurements vary from the mean,
expressed in units squared.
Abbreviation for the population variance is ó2 (sigma-squared)
Abbreviation for the sample mean is s2 (s-squared)

Front 47

standard deviation

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square root of variance
sigma= population
sample= s

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Be able to calculate standard deviation

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see examples in class

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Phenotypic variance

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a measure of the total variability of the trait

Front 50

genetic variance

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variation in phenotype due to environmental (nongenetic) differences among
individuals

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Environmental Variance

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variation in phenotype due to environmental (nongenetic) differences among
individuals

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Genetic-Environmental interaction

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variation in phenotype due to the interaction of genetics with environment
- different genotypes rank differently under different environmental conditions

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Phenotypic Variance =

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Genetic Variance + Environmental Variance + Genetic-Environmental interaction

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Additive genetic variance

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Variation in phenotype due to effects of individual genes
--the portion that is passed on to the next generation

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Dominance genetic variance

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Variation in phenotype due to interactions between genes at the same locus
(dominance effects)

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Interaction genetic variance

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Variation in phenotype due to interactions between genes at different loci (epistatic
effects)

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heritability

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the proportion of a population=s phenotypic variation that is attributable to genetic
factors (as opposed to environmental factors)

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Broad sense heritability

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the portion of the phenotypic variance that is due to all genetic differences

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narrow sense heritbality

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narrow sense heritability provides information on how a trait will respond to selection
the portion of the phenotypic variance that is due to additive genetic differences

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evolution

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genetic change that takes place over time within a group of organisms

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Selection Differential

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the difference between the mean phenotype of the selected parents and the mean phenotype of the whole unselected population

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Selection response

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Selection differential x narrow sense heritability
SD x h2

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be able to complete problems involving estimating heritability, response to selection, expected mean body wt/ ht, realized heritability

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Example: Body weight in mice
Mean body weight of population = 28 g
Mean body weight of selected mice = 40 g
Selection Differential = _______________
Mean body weight of offspring = 34 g
Selection response = _______________
Realized heritability = _______________

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Breeding Value

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the value of an individual as a (genetic) parent
- the sum of the individual gene effects influencing a trait
- individual gene effects are passed to offspring, but gene combination effects (like
dominance) are not

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population genetics

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the study of the genetic composition of a population, and how it can change with time

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gene pool

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alleles carried by the individuals which comprise a population

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Evolutionary forces that affect a population

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mutation, migration, selection, genetic drift

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mutation

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change in DNA base or chromosome
- new source of genetic material
- source of variability
- occur at a low frequency
- usually harmful

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migration

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movement of individuals into a population
- introduction of new alleles
- can have a major impact over short time span

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selection

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genotype and/or phenotype has an
advantage/disadvantage with regard to
producing the next generation

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genetic drift

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for a small population
random fluctuations in gene frequency which occur when
offspring are not representative of the population from which they came

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genetic variation:

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necessary to make change, greater the variation the more rapid the change

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genotypic frequency

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relative proportion of individuals with each genotype

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phenotypic frequency

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relative proportion of individuals with each phenotype

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gene (allelic) frequency

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relative proportion of each allel in the population

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Hardy-Weinberg (H-W) Equilibrium

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In a large random mating population, gene and genotypic frequencies remain constant in the
absence of migration, mutation, and selection.

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H-W formulae

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p + q = 1
p2 + 2pq + q2 = 1

If you know q2, you can calculate q.
If you know q, you know p.
If you know p and q, you can calculate p2 and 2pq.

Front 78

When H-W is disrupted

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the new gene frequencies are passed to the new generation, but not the genotypic or phenotypic frequencies.
The genotypic and phenotypic frequencies (based on the new gene frequencies) will conform to H-W with one generation of random mating.

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Migration and Selection

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Impact from a known migration or selection can be estimated

Disrupts Hardy-Weinberg equilibrium temporarily

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Mutation and Genetic Drift

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Mutation is a rare event
Drift results from small pop
Difficult to predict impact of mutation or drift in advance
Disrupts Hardy-Weinberg equilibrium

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Inbreeding

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increases homozygousity
recessive genetic defects are more likely to be expressed
inbreeding leads to animals and plants that are more uniform in their phenotype

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Selfing

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Extreme example of Inbreeding
Both gametes originate from the same organism
rapid increase in homozygousity