Bio 311 midterm study

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119 Terms

1

Gene

A hereditary unit of information

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2

Wild type

The most prevalent phenotype in a population under natural conditions

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3

Mutant

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

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4

Gene locus

The position of a gene on the chromosome

<p>The position of a gene on the chromosome</p>
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5

Allele

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

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6

Genotype

The combination of alleles for any gene

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7

Phenotype

Observable characteristics, as determined by the genotype

<p>Observable characteristics, as determined by the genotype</p>
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8

Dominant

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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9

Recessive

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

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10

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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11

Gregor Mendel tested traits with only ____ phenotypes

2, "dominant" and "recessive"

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12

What determines if one allele is dominant over the other?

Proteins produced in each of the alleles

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13

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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14

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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15

Gain of function

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

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16

Incomplete Dominance

Heterozygous individuals display intermediate phenotypes between either homozygous type

<p>Heterozygous individuals display intermediate phenotypes between either homozygous type</p>
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17

Codominance

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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18

haploinsufficient

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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19

Single letter nomenclature

Mutant phenotype or recessive allele if mutant is unknown

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20

Capital letter nomenclature

dominant allele

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21

Lower case nomenclature

recessive allele

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22

Slashes nomenclature

Indicates genes on homologous chromosomes

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23

Semicolons nomenclature

Indicates genes on non-homologous chromosomes

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24

What organism did Gregor Mendel study?

Garden peas!

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25

How did Gregor Mendel examine traits

Through crossing and selfing

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26

Discontinuous trait

phenotypes that are expressed in clear-cut variations

<p>phenotypes that are expressed in clear-cut variations</p>
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27

True Breeding

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

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28

Monohybrid cross

A cross between individuals that involves one pair of contrasting traits

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29

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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30

Test cross

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

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31

Who is in chromosomal theory of inheretance

Sutton, Boveri and Morgan

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32

What did they propose

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

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33

Parts of a chromosome

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

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34

Metacentric

centromere in middle

<p>centromere in middle</p>
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35

acrocentric

centromere close to end

<p>centromere close to end</p>
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36

telocentric

centromere at end

<p>centromere at end</p>
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37

Homogametic

Matching sex chromosome (XX)

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38

Heterogametic

No matching pair (XY)

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39

How can heterogametic form a synaptomenal complex

Pseudoautosomal regions

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40

propositus

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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41

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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42

Independent assortment results in gametes which are ____ recombinant

50%

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43

Lethal alleles

Lethality occurs when two copies of a mutant allele are inherited

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44

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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45

Expressivity

the degree to which a trait is expressed

<p>the degree to which a trait is expressed</p>
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46

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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47

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

Phenotype is no longer wild type

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48

Beadle and Tatum

Investigated genetic control of cellular chemistry (Neurospora

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49

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

complete

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50

Complementation test

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

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51

Complement

alleles of different genes

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52

Fail to complement

alleles of the same gene

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53

synthetic

genes on the same chromosome

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54

Do linked genes follow the law of independent assortment?

No!

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55

Linked

A b / a b

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56

Unlinked

A/a ; B/b

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57

Unsure

A/a . B/b

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58

cis conformation

Same

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59

trans conformation

Different

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60

Chiasmata

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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61

Frequency of Recombinants is directly related to _______ between genes

distance, larger distance = higher chance of crossing over

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62

Karyotype:

an individual's complete set of chromosomes.

<p>an individual's complete set of chromosomes.</p>
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63

Karyotypes generally remain ____ within a species

constant

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64

Related species usually have _____ karyotype

different

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65

Chromosomal ______ can result in all classes of chromosomal rearrangements

breakage

<p>breakage</p>
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66

Abnormal _____ at repeated sequences can also produce rearrangements

crossing over

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67

Translocation

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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68

Rearrangements can impact phenotypes or even viability by affecting _________

Gene balance

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69

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

Homozygous or heterozygous

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70

Recombinants only occur at _________ regions

homologous, no recombinant can occur within a deletion loop

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71

Tandem duplications

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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72

nontandem duplications (dispersed)

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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73

Entire genes duplicate

produce multigene families

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74

Gene families produce

gene superfamilies

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75

Lowest level, exons ______ or __________

Duplicate, shuffle

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76

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

No

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77

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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78

When is inversion loop formed

During meiosis

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79

Inversion loop

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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80

prototroph

able to synthesize all the nutrients required for their growth

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81

auxotroph

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

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82

Horizontal gene transfer

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

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83

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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84

Transformation

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

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85

Transduction

Virus mediates transfer to DNA from donor bacterial cell to the recipient cell

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86

The F plasmid (or fertility factor) enables the information of a pilus and the attachment of F____ cells to F___ cells

+ to -

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87

Fertility (F) factor

a plasmid that gives the bacterial cell the ability to produce a pilus

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88

Does the recipient cell usually become a F+ donor?

No, pilus is not very stable so its rare

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89

Does F+ donor become F- when it donates plasmid?

No, remains F+ donor because plasmid donated is replicated

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90

Hfr strain

a bacterial strain in which the F factor is integrated into the chromosome, Hfr strain contains F factor in its gnome

<p>a bacterial strain in which the F factor is integrated into the chromosome, Hfr strain contains F factor in its gnome</p>
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91

Hfr x F- cross

Hfr is able to transfer DNA attached to F factor into recipient cell

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92

What happens to linear DNA that remains in the cell in HfrxF-

it is recycled by cell

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93

DNA replication and transfer begins were in Hfr x F-?

Where the F factor was integrated, transfer starts at the origin of transfer

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94

Exconjugant

Cell that contains fragment of donor DNA; has participated in conjugation

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95

Hfr x F- have _______ genotype

opposite

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96

F- is usually _______

auxotrophic

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97

When is interrupted mating used for

To determine order of bacterial genes

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98

Can F plasmid integrate at different sites and in different orientations?

yes

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99

Recombination takes place between a ________ genome and an ________ genome

complete, incomplete

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100

Exogenote

partial genome

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