Bio 311 midterm study

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119 Terms
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Gene

A hereditary unit of information

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Wild type

The most prevalent phenotype in a population under natural conditions

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Mutant

a deviation to the wild-type phenotype as a result from an allelic change in DNA

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Gene locus

<p>The position of a gene on the chromosome</p>

The position of a gene on the chromosome

<p>The position of a gene on the chromosome</p>
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Allele

One of two (or more) versions of a gene that differs in sequence and exists at the same loci

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Genotype

The combination of alleles for any gene

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Phenotype

<p>Observable characteristics, as determined by the genotype</p>

Observable characteristics, as determined by the genotype

<p>Observable characteristics, as determined by the genotype</p>
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Dominant

<p>The phenotype observed in heterozygous individuals (i.e. genotype includes both allele variants) (does not equal wild type)</p>

The phenotype observed in heterozygous individuals (i.e. genotype includes both allele variants) (does not equal wild type)

<p>The phenotype observed in heterozygous individuals (i.e. genotype includes both allele variants) (does not equal wild type)</p>
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Recessive

The phenotype observed only in individuals that are homozygous for the recessive allele (does not equal mutant)

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How many traits did Gregor Mendel observe and what were they?

7 traits: pea color, pea shape, pos color pod shape, flower color, plant height, position of flowering shoot

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Gregor Mendel tested traits with only ____ phenotypes

2, "dominant" and "recessive"

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What determines if one allele is dominant over the other?

Proteins produced in each of the alleles

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When is wild-type phenotype produced?

Produced when an organism has two copies of wild-type allele, or when one copy is sufficient to meet the protein requirements

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Loss of function

Significant decrease or complete loss of functional gene product (A type of mutation in which the altered gene product lacks the molecular function of the wild-type gene)

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Gain of function

Gene product acquires a new function (mutation) or expression increased above wild-type activity

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Incomplete Dominance

<p>Heterozygous individuals display intermediate phenotypes between either homozygous type</p>

Heterozygous individuals display intermediate phenotypes between either homozygous type

<p>Heterozygous individuals display intermediate phenotypes between either homozygous type</p>
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Codominance

<p>Results when there is detectable expression of both alleles in the heterozygotes</p>

Results when there is detectable expression of both alleles in the heterozygotes

<p>Results when there is detectable expression of both alleles in the heterozygotes</p>
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haploinsufficient

<p>For a particular gene, one functioning copy is not enough for a wildtype phenotype.</p>

For a particular gene, one functioning copy is not enough for a wildtype phenotype.

<p>For a particular gene, one functioning copy is not enough for a wildtype phenotype.</p>
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Single letter nomenclature

Mutant phenotype or recessive allele if mutant is unknown

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Capital letter nomenclature

dominant allele

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Lower case nomenclature

recessive allele

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Slashes nomenclature

Indicates genes on homologous chromosomes

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Semicolons nomenclature

Indicates genes on non-homologous chromosomes

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What organism did Gregor Mendel study?

Garden peas!

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How did Gregor Mendel examine traits

Through crossing and selfing

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Discontinuous trait

<p>phenotypes that are expressed in clear-cut variations</p>

phenotypes that are expressed in clear-cut variations

<p>phenotypes that are expressed in clear-cut variations</p>
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True Breeding

Organisms that, when reproducing, create offspring of all the same variety.

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Monohybrid cross

A cross between individuals that involves one pair of contrasting traits

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Equal Segregation

In a heterozygote (Aa), half of the products of meiosis will carry one allele (A) and the other half will carry the other allele (a).

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Test cross

Determine if phenotypically dominant individual is homozygous dominant or heterozygous, testers are homozygous recessive

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Who is in chromosomal theory of inheretance

Sutton, Boveri and Morgan

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What did they propose

Looked at chromosome separation during meiosis under microscope, proposed mendels particle where chromosomes

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Parts of a chromosome

telomere, P arm (shorter), Q arm (longer), centromere

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Metacentric

<p>centromere in middle</p>

centromere in middle

<p>centromere in middle</p>
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acrocentric

<p>centromere close to end</p>

centromere close to end

<p>centromere close to end</p>
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telocentric

<p>centromere at end</p>

centromere at end

<p>centromere at end</p>
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Homogametic

Matching sex chromosome (XX)

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Heterogametic

No matching pair (XY)

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How can heterogametic form a synaptomenal complex

Pseudoautosomal regions

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propositus

<p>In a human pedigree, the person who first came to the attention of the geneticist (usually has a disease)</p>

In a human pedigree, the person who first came to the attention of the geneticist (usually has a disease)

<p>In a human pedigree, the person who first came to the attention of the geneticist (usually has a disease)</p>
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Mendel's second law of independent assortment

inheritance of one allele has no effect on the likelihood of inheriting certain alleles for other genes

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Independent assortment results in gametes which are ____ recombinant

50%

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Lethal alleles

Lethality occurs when two copies of a mutant allele are inherited

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Penetrance

The % of individuals with a mutation that show the phenotype (some individuals with mutant phenotype will not show the mutant phenotype)

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Expressivity

<p>the degree to which a trait is expressed</p>

the degree to which a trait is expressed

<p>the degree to which a trait is expressed</p>
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Why would individuals with the same mutation not show exactly the same phenotype

Environment, Other genes, Fine distinction of mutant phenotype

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If any gene in a pathway is mutated what happens to wild-type phenotype?

Phenotype is no longer wild type

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Beadle and Tatum

Investigated genetic control of cellular chemistry (Neurospora

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Ascospores are transferred to culture tubes of ______ medium (sugar, salt, water)

complete

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Complementation test

method of discovering whether two mutations are in the same or separate genes

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Complement

alleles of different genes

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Fail to complement

alleles of the same gene

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synthetic

genes on the same chromosome

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Do linked genes follow the law of independent assortment?

No!

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Linked

A b / a b

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Unlinked

A/a ; B/b

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Unsure

A/a . B/b

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cis conformation

Same

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trans conformation

Different

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Chiasmata

<p>Cross shaped structures that form during meiosis when two dyads form a tetrad (bivalent) early stages of prophase</p>

Cross shaped structures that form during meiosis when two dyads form a tetrad (bivalent) early stages of prophase

<p>Cross shaped structures that form during meiosis when two dyads form a tetrad (bivalent) early stages of prophase</p>
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Frequency of Recombinants is directly related to _______ between genes

distance, larger distance = higher chance of crossing over

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Karyotype:

<p>an individual's complete set of chromosomes.</p>

an individual's complete set of chromosomes.

<p>an individual's complete set of chromosomes.</p>
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Karyotypes generally remain ____ within a species

constant

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Related species usually have _____ karyotype

different

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Chromosomal ______ can result in all classes of chromosomal rearrangements

<p>breakage</p>

breakage

<p>breakage</p>
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Abnormal _____ at repeated sequences can also produce rearrangements

crossing over

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Translocation

<p>Change to a chromosome in which a fragment of one chromosome attaches to a nonhomologous chromosome.</p>

Change to a chromosome in which a fragment of one chromosome attaches to a nonhomologous chromosome.

<p>Change to a chromosome in which a fragment of one chromosome attaches to a nonhomologous chromosome.</p>
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Rearrangements can impact phenotypes or even viability by affecting _________

Gene balance

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Severity of effect can depend if individual is ________ or _______ for rearranged chromosomes

Homozygous or heterozygous

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Recombinants only occur at _________ regions

homologous, no recombinant can occur within a deletion loop

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Tandem duplications

<p>repeats of a chromosomal region that lie adjacent to each other, either in the same order or in reverse order</p>

repeats of a chromosomal region that lie adjacent to each other, either in the same order or in reverse order

<p>repeats of a chromosomal region that lie adjacent to each other, either in the same order or in reverse order</p>
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nontandem duplications (dispersed)

<p>two or more copies of a region that are not adjacent to each other and may lie far apart on the same chromosome or on different chromosomes</p>

two or more copies of a region that are not adjacent to each other and may lie far apart on the same chromosome or on different chromosomes

<p>two or more copies of a region that are not adjacent to each other and may lie far apart on the same chromosome or on different chromosomes</p>
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Entire genes duplicate

produce multigene families

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Gene families produce

gene superfamilies

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Lowest level, exons ______ or __________

Duplicate, shuffle

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If there is breakage between a gene, can it change gene function

No

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Inversion

A chromosomal mutation involving the removal of a chromosome segment, its rotation through l80 degrees, and its reinsertion in the same location.

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When is inversion loop formed

During meiosis

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Inversion loop

<p>a loop formed by meiotic pairing of homologs in an inversion heterozygote</p>

a loop formed by meiotic pairing of homologs in an inversion heterozygote

<p>a loop formed by meiotic pairing of homologs in an inversion heterozygote</p>
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prototroph

able to synthesize all the nutrients required for their growth

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auxotroph

unable to synthesize all of the vital nutrients (requires addition of organic compounds)

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Horizontal gene transfer

Movement/exchange of genetic info without sexual reproduction or cell division

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Conjugation

Direct contact between bacterial cells and DNA is transferred from donor to the recipient (small circular plasmid/ a part of the bacterial genome)

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Transformation

Picking up free DNA from the environment/ a dead bacterial cell

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