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Genetics > Exam 2 > Flashcards

Exam 2 Flashcards

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1
Q

a priori

A

where you get the observation from, “the earlier”

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2
Q

a posteriori

A

“from the later”

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3
Q

what are important parts of the experimental design?

A

controls and treatments

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4
Q

parts of formulating a hypothesis using prior knowledge

A
  • a priori (“from the earlier)
  • a posteriori (“from the later”)
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5
Q

Mendel’s hypothesis

A

the observed traits and hypothesized they were due to some hereditary factor

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6
Q

what were the controls of Mendel’s experimental design?

A

purebred lines

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7
Q

Fo

A

the initial, base generation, the parents

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8
Q

F1

A

the first generation, the offspring of the parents/base generation

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9
Q

F2

A

the second generation, the offspring of the F1 generation

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10
Q

Mendels Laws:
First Law: _________________
-
-
-
Second Law: ______________
-

A

First Law: Segregation
- each individual organism possesses two alleles encoding a trait (diploid)
- alleles separate when gametes are formed
- alleles separate in equal proportions
Second Law: Independent Assortment
- alleles at different loci separate independently

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11
Q

Mendel’s first law

A

segregation

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12
Q

Mendel’s second law

A

independent assortment

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13
Q

gene

A

inherited factors that determine a characteristic

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14
Q

allele

A

alternative forms of a gene

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15
Q

locus

A

specific location on a chromosome

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16
Q

genotype

A

combination of alleles

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17
Q

homozygote

A

2 identical alleles at locus

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18
Q

heterozygote

A

2 different alleles at locus

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19
Q

intergenic

A

non coding region (region between genes)

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20
Q

phenotype

A

manifestation or appearance of a characteristic

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21
Q

how does a phenotype arise?

A

a phenotype arises from the effects of genes that develop within a particular environment

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22
Q

__________ and _________ are dominant and recessive, NOT __________

A

PHENOTYPES and TRAITS are dominant and recessive, NOT ALLELES

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23
Q

monohybrid cross

A

between 2 lines that breed true for ONE trait

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24
Q

dihybrid cross

A

breeds true for TWO traits

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25
Q

backcross

A

breed offspring back to the parental generation

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26
Q

when does segregation occur during cell division?

A

before meiosis and anaphase 1 of meiosis

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27
Q

when does independent assortment occur during cell division?

A

anaphase 1

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28
Q

probability

A

probability expressed the likelihood of the occurrence of a particular event

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29
Q

conditional probability

A

a probability that is modified by additional information that another event has occurred

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30
Q

multiplication or addition rule: this AND this

A

multiply

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31
Q

multiplication or addition rule: this OR this

A

addition

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32
Q

multiplication rule

A

the probability of 2 or more independent events occurring together is calculated by multiplying the probabilities of each of the individual events

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33
Q

addition rule

A

the probability of any of two or more mutually exclusive events is calculated by adding the probabilities of the individual events

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34
Q

testcross

A

cross between an individual with an unknown genotype and an individual with the homozygous recessive genotype

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35
Q

wild type

A

the trait or allele is most commonly found in natural (wild) populations (denoted with a +)

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36
Q

subscripts and superscripts

A

added to distinguish between genes

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37
Q

slash (/)

A

distinguish two alleles present in an individual genotypes

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38
Q

underscore ( _ )

A

in a genotype, indicates that any allele is possible

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39
Q

dihybrid cross

A

2 – heterozygous at both loci
(cross between two individuals that differ in 2 chromosomes)

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40
Q

phenotypic ratio: Tt x tt

A

1:1

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41
Q

phenotypic ratio: Tt x Tt

A

3:1

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42
Q

F2 generation ratio: RRYY x rryy

A

9:3:3:1

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43
Q

What causes an F2 generation of a dihybrid cross to have a 9:3:3:1 ratio?

A

this is due to independent assortment, the alleles at each locus separate independently to produce 4 types of gametes, all outcomes are possible and create a 9:3:3:1 ratio

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44
Q

For a 9:3:3:1 ratio what two things have to be true for this to work?

A
  • loci must be independent
  • there must be complete dominance
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45
Q

chi-square goodness of fit test

A

statistical test used to evaluate how well a set of observed values fit the expected value

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46
Q

what does the chi-square test indicate?

A

indicates the probability that the difference between the observed and the expected value is due to chance and provides information about how well observed values fit expected values

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47
Q

what can the chi-square test NOT tell us?

A
  • whether a genetic cross has been correctly carried out
  • whether the results are correct
  • whether we have chosen correct genetic explanation for the results
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48
Q

Null Model (Ho)

A

the data will fit ________________

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49
Q

Alternate Model (Ha)

A

the data does not fit our model

50
Q

you can either ________ or __________________ the null model, you cannot accept the model

A

reject or fail to reject

51
Q

Type 1 Error

A

incorrectly reject the null

52
Q

Type 2 Error

A

incorrectly fail to reject the null

53
Q

on the chi squared test: greater than 0.05

A

fail to reject the null

54
Q

on the chi squared test: less than 0.05

A

reject the null

55
Q

equation for degrees of freedoms

A

number of classes - number of parameters estimated - 1

56
Q

mechanisms of sex determination

A
  • chromosome (XX-XO, XX-XY, ZZ-ZW)
  • environmental (order, temperature)
57
Q

sex (noun)

A

refers to sexual phenotypes

58
Q

sex determination

A

the mechanism by which sex is established

59
Q

phenotype

A

physical manifestation of a trait

60
Q

biological sex

A

refers to the anatomical and physiological phenotype of an individual

61
Q

hemaphrodite

A

both sexes present in the same organism

62
Q

monoecious

A

individual having both male AND female reproduction female reproductive structures (latin: one house, a hemaprodite)

63
Q

dioecious

A

individuals have either male OR female reproductive structures (latin: two houses, chromosomal, genetic or environmental)

64
Q

examples of environmental sex determining systems

A
  • stacks of slipper limpets determines sex
  • temperature of certain reptiles and birds eggs
65
Q

sex determination systems: chromosomal

A

chromosomal theory of heredity states that genes are present on chromosomes

66
Q

we don’t transmit ________ to the next generation, we transmit _____________

A

alleles, chromosomes

67
Q

1/2 of sperm have an ___ chromosome, 1/2 sperm have an ___ chromosome, all eggs carry a ___ chromosome

A

X, Y, X

68
Q

heterogametic

A

different sex chromosome complement (ex: XY, ZW)

69
Q

homogametic

A

same sex chromosome complement (ex: XX, ZZ)

70
Q

male vs female: XX vs XO

A
  • XX = female
  • XO = male
71
Q

male vs female: XX vs XY

A
  • XX = female
  • XY = male
72
Q

pseudoautosomal region (PAR)

A

regions where the sequence is the same (homologous gene sequence), where X and Y pair

73
Q

male vs female: ZZ vs ZW

A
  • ZZ = male
  • ZW = female
74
Q

Turner Syndrome

A
  • XO
  • a single X chromosome in each cell
  • female
75
Q

mosaic / mosaicism

A

some cells have XX and other cells have XO

76
Q

there are no known cases in which a person is missing both X’s, what does this mean?

A

it is an indication that at least one X chromosome is needed for human development

77
Q

Kleinfelter Syndrome

A
  • XXY
  • cells with one or more Y chromosomes and multiple X chromosomes
  • male
78
Q

Poly X Females

A
  • XXX
  • triple X syndrome
79
Q

sex determining region Y

A
  • SRY gene
  • encodes a transcription factor that promotes differentiation of the testes
80
Q

Why do males have SRY gene?

A

mammals early development have undifferentiated gonads, the default is to go female, but the cascade started by SRY causes gonads to develop as male

81
Q

hemizygosity

A

possession of a single allele at a locus

82
Q

males are homozygous for genes on the _______ chromosomes

A

X

83
Q

dosage compensation

A

females have 2 copies of the X and males have 1 X, the amount of proteins produced is often due to the number of copies present, so females would produce double the amount of proteins than males, to compensate for this one of the X’s inactivates in each cell

84
Q

Lyon Hypothesis

A

within the female cell, one of the X chromosomes is inactivated

85
Q

when does X inactivation occur?

A

happens in early development, at random

86
Q

Barr body

A

inactive X chromosome

87
Q

if there are excess X’s only one is active - how many barr bodies are pressent in each example? XX, XXX, XXXY

A
  • XX = 1 barr body
  • XXX = 2 barr bpdies
  • XX = 2 barr bodies
88
Q

_______ are dominant or recessive

A

TRAITS

89
Q

complete dominance

A
  • the same phenotype is expressed in homozygotes (AA) and in heterozygotes (Aa)
  • only the phenotype of the dominant allele is expressed in a heterozygote
90
Q

incomplete dominance

A

the phenotype of the heterozygote is intermediate between the phenotypes of the 2 homozygotes

91
Q

codominance

A

type of allelic interaction in which the heterozygote simultaneously expresses traits of both homozygotes

92
Q

dominance affects the way that genes are __________ (the phenotype), but not the way genes are _________

A

expressed, inherited

93
Q

Dominance

A

is a result of interactions of alleles within the same locus

94
Q

Allelic interactions that characterize dominance are

A

interactions between the products of the genes

95
Q

The nature of the ________________ is relative to the level at which the phenotype is examined

A

dominance

96
Q

penetrance

A

percentage of individuals with a particular genotype that express the phenotype expected of that genotype

97
Q

incomplete penetrance

A

a case in which some individuals possesses the genotype for a trait but do not express the expected phenotype

98
Q

expressitivity

A

degree to which a trait is expressed

99
Q

multiple alleles

A

presence of more than 2 alleles at a locus in a group of diploid individuals; however each individual of the group has only two of the possible alleles

100
Q

equation for the number of genotypes possible

A

n(n+1) / 2

101
Q

lethal allele

A

allele that causes death of an individual organism, often easy in development, so that the organism does not appear in the progeny of a genetic cross.

102
Q

a ____________ lethal allele kills individual that are homozygous for the allele; a ____________ lethal allele kills both heterozygous and homozygotes

A

recessive, dominant

103
Q

a lethal allele typically has a ___:___ ratio

A

2:1

104
Q

a dihybrid cross typically has a __:__:__:__ ratio

A

9:3:3:1

105
Q

what is an example of a dihybrid cross?

A

YYRR x yyrr or YyRr x YyRr

106
Q

gene interaction

A

interaction between genes at different loci that affect the same characteristic

107
Q

epistasis

A

type of gene interaction in which a GENE at one locus masks or suppresses the effects of a GENE at a DIFFERENT locus

108
Q

epistatic gene

A

gene that masks or surpasses the effect of a gene at a different locus

109
Q

recessive epistasis

A

the recessive genotype at one locus masks the phenotype at a second locus

110
Q

hypostatic gene

A

gene that is masked or suppressed by the action of a gene at a different locus

111
Q

dominant epistasis

A

a single copy of an allele at one locus masks the phenotype of a second locus

112
Q

duplicative recessive epistasis

A

two recessive alleles at EITHER of two loci are capable of suppressing a phenotype

113
Q

sex-influenced

A

characteristic encoded by AUTOSOMAL genes that are more readily expressed in one sex

114
Q

example of sex-influenced characteristic

A

an autosomal dominant gene may have higher penetrance in males than in females, or an autosomal gene may be dominant in males but recessive in females

115
Q

sex-limited

A

characteristic encoded by AUTOSOMAL genes and expressed in only one sex

116
Q

cytoplasmic inheritance

A

inheritance of characteristics encoded by genes located in the cytoplasm. Because the cytoplasm is usually contributed entirely by one parent, most cytoplasmically inherited characteristics are inherited from only one parent.

117
Q

genetic maternal effect

A

determination of the phenotype of an offspring not by its own genotype, but by the nuclear genotype of its mother

118
Q

genomic imprinting

A

differential expression of a gene that depends on the sex of the parent that transmitted the gene

119
Q

traits have dominant and recessive inheritance not alleles, why?

A

traits are said to have dominant and recessive inheritance because the terms “dominant” and “recessive” describe the relationship between different alleles of a gene, which ultimately determine the expression of a trait

120
Q

what are 2 examples of levels a genotype may manifest as a phenotype

A

molecular and organismal level

Genetics (10 decks)

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