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Genetics > Exam 1 > Flashcards

Exam 1 Flashcards

1
Q

age of genetic science

A

150-160 years old

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2
Q

GMO examples

A

1994 Flavr Savr, 2009 goats, 2015 chickens

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3
Q

applications of genetics

A

cloning, forensic science, food, biotechnology, human genetics

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4
Q

divisions of genetics

A

transmission, molecular, population

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5
Q

transmission genetics

A

how genetic information is passed from one generation to the next

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6
Q

molecular genetics

A

structure and function of DNA molecules

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7
Q

population genetics

A

how genetic differences change in populations over time

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8
Q

model organisms

A

how we experiment genetically

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9
Q

E. coli model organism

A

prokaryote, short generation time, protein expression, gene regulation studies

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10
Q

S. cerevisiae model organism

A

eukaryote, short generation time, easy manipulation, basic cell biology

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11
Q

C. elegans model organism

A

well-mapped genetic structure (959 cells), 3-4 day generation, transparent, development, aging

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12
Q

D. melanogaster model organism

A

fly, easy and cheap to culture, 10 day life cycle, many embryos, external development, genetic tools

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13
Q

A. thaliana model organism

A

mustard plant, The Model Plant, genetics, development, plant-microbe interactions

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14
Q

D. rerio

A

zebra fish, share 70% of genes with humans, 90 day generation, transparent embryos, external development, drugs and toxicology studies, tissue regeneration

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15
Q

M. musculus

A

mouse, shares 85% of genes with humans, 50 day generation time, widely used disease models, drug therapies

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16
Q

Does the estimated number of genes in an organisms reflect evolutionary complexity?

A

No, evolutionary complexity is determined by the layers of regulation of gene expression.

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17
Q

characteristics of model organisms

A

short generation time, manageable numbers of progeny, adaptability to the lab, inexpensive to rear

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18
Q

what is a chromosome

A

DNA storage container

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19
Q

nucleosome

A

DNA wrapped around a histone core

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20
Q

chromatosome

A

nucleosome + histone protein (H1 linker)

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21
Q

chromatin

A

DNA wrapped around histones (DNA + protein)

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22
Q

haploid

A

1 copy in every cell

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23
Q

diploid

A

two copies in every cell

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24
Q

karyotype

A

the picture of all chromosomes in an individual

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25
Q

telomere

A

tips of the chromosomes

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26
Q

centromere

A

center of chromosome where two sister chromatids are attached

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27
Q

kinetochore

A

a protein structure that attaches chromosomes to spindle microtubules during cell division

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28
Q

(on karyotype) metacentric

A

centromere in the middle

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29
Q

(on karyotype) submetacentric

A

centromere slightly away from the middle

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30
Q

(on karyotype) acrocentric

A

centromere very far away from the middle

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31
Q

(on karyotype) telocentric

A

sister chromatids attached at the telomeres

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32
Q

chromosome territories

A

you can map out chromosome territories in the cell because they are so condensed.

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33
Q

function of mitosis

A

preserve chromosome number and make two identical daughter cells.

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34
Q

5 stages of mitosis

A

interphase, prophase, metaphase, anaphase, telophase

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35
Q

mitosis interphase

A

DNA is replicated

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36
Q

mitosis prophase

A

chromosomes start to condense and mitotic spindle forms

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37
Q

mitosis metaphase

A

chromosomes line up in the middle of the cell

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38
Q

mitosis anaphase

A

sister chromatids separate and move to opposite sides of the cell

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39
Q

mitosis telophase

A

end of the process, nuclear membrane reforms around each daughter nucleus

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40
Q

mitosis prometaphase

A

nuclear envelope disintegrates, spindle microtubules anchor to kinetochores

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41
Q

cytokinesis

A

cytoplasm divides

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42
Q

mitosis G0 phase

A

stable, nondividing period

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43
Q

mitosis G1 phase

A

growth and development of the cell, G1/S checkpoint

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44
Q

mitosis S phase

A

duplication of DNA

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45
Q

mitosis G2 phase

A

preparation for division, G2/M checkpoint

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46
Q

function of meiosis

A

two divisions, reduces chromosome number to half (2n:n:n)

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47
Q

meiosis stages

A

interphase, meiosis 1 (mitosis stages), interkinesis, meiosis 2 (mitosis stages), cytokinesis

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48
Q

synaptonemal complex (SC)

A

a protein structure that forms between homologous chromosomes (two pairs of sister chromatids) during meiosis and is thought to mediate synapsis and recombination during meiosis I in eukaryotes.

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49
Q

meiosis prophase 1

A

crossing over, nuclear membrane breaks down

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50
Q

meiosis metaphase 1

A

homologous pairs of chromosomes line up in center

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51
Q

meiosis anaphase 1

A

homologous chromosomes separate and are pulled to separate sides of the cell

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52
Q

meiosis telophase 1

A

chromosomes arrive at spindle poles and cytoplasm divides

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53
Q

meiosis prophase 2

A

chromosomes recondense

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54
Q

meiosis metaphase 2

A

individual chromosomes line up in the middle

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55
Q

meiosis anaphase 2

A

sister chromatids separate and are pulled to separate sides of the cell

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56
Q

meiosis telophase 2

A

chromosomes arrive at spindle poles and cytoplasm divides

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57
Q

spindle microtubules

A

they lengthen and shorten at the centrosome, essential for chromatin separation (43-44 of W1L2)

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58
Q

bivalent

A

a pair of homologous chromosomes that are physically connected and form a tetrad during meiosis

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59
Q

tetrad

A

a structure formed during meiosis where two homologous chromosomes, each consisting of two sister chromatids, are paired together, creating a group of four chromatids called a tetrad

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60
Q

disjunction

A

homologous chromosomes move apart toward the opposite poles of the cell in anaphase I

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61
Q

nondisjunction

A

a situation where chromosomes fail to separate properly during cell division (meiosis), resulting in daughter cells with an abnormal number of chromosomes

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62
Q

chiasma

A

a physical link between two homologous chromosomes during meiosis. Chiasmata are formed at sites where DNA breaks are recombined, creating crossovers

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63
Q

cohesin

A

a protein complex that holds sister chromatids together during cell division

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64
Q

separase

A

Separase is a protein enzyme that plays a crucial role in chromosome segregation during cell division by cleaving the protein complex “cohesin”

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65
Q

shugoshin

A

Shugoshin is a protein that protects cohesin at centromeres, which is important for chromosomal stability during cell division

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66
Q

pangenesis concept

A

genetic info from around the body travels to the reproductive organs where it is transferred to the gametes.

67
Q

preformationism

A

there is a fully-formed tiny person inside the gamete

68
Q

Germ-Plasm theory

A

germ line tissue in the reproductive organs contains a complete set of genetic information that is transferred directly to the gametes

69
Q

blending inheritance

A

sex cells contain the essence of the parents, the union of these cells blends the essence (red + white = pink)

70
Q

Gregor Mendel

A

father of modern genetics

71
Q

gene

A

determines a trait

72
Q

alleles

A

alternate forms of a gene (gametes have 1, adult cells have 2)

73
Q

locus

A

a specific place on a chromosome occupied by an allele

74
Q

homozygous

A

two alleles are the same

75
Q

heterozygous

A

two alleles are different

76
Q

monohybrid cross

A

a cross involving a single trait

77
Q

dihybrid cross

A

a cross involving two traits

78
Q

Mendel’s conclusions

A

heredity is not blending, 2 determinants/trait, in a heterozygote 1 may be dominant 1 may be recessive

79
Q

Mendel’s 1st law: Law of Segregation

A

During gamete formation, alleles separate or segregate from each
other. Half of the gametes carry one member of the pair and the other half carry the other member of the pair.

80
Q

genotype

A

genetic constitution of an organism

81
Q

genotypic ratio

A

ratio of genotypes from a cross

82
Q

phenotype

A

appearance of an organism

83
Q

phenotypic ratio

A

ratio of phenotypes from a cross

84
Q

backcross

A

crossing F1 back to either parental type

85
Q

reciprocal cross

A

reverse male and female phenotypes

86
Q

test cross

A

one parent is homozygous recessive - to determine genotype of other parent

87
Q

Mendelian disorders in humans

A

Tay-Sachs disease, Sickle Cell Anemia, Thalesemia

88
Q

Mendel’s 2nd Law: Law of Independent Assortment

A

Different genes assort independently in gamete formation.

89
Q

Multiplication Rule

A

if two events are independent, the probability that they will occur together is the product of their separate probabilities. P(a and b)=P(a)xP(b)

90
Q

Additive Rule

A

if two events are independent, the probability that at least one will occur is the sum of their separate probabilities. P(a or b)=P(a)+P(b)

91
Q

hypotheses

A

a statement about the proposed inheritance of a trait. For example, “inheritance of flower color in snapdragons is controlled by a single gene with two alleles showing incomplete dominance.”

92
Q

null hypothesis

A

the observed values = the expected values and differences are due to random chance.

93
Q

degrees of freedom

A

phenotypic categories -1

94
Q

chi-squared statistic

A

sum of (obs-exp)2/exp

95
Q

interpreting chi-squared statistic

A

if your chi-squared statistic is less than the critical value, it is due to random chance. null accepted.

96
Q

pleiotropy

A

one gene affects more than 1 trait

97
Q

dominance

A

phenotype of the heterozygote is same as phenotype of one of the homozygotes

98
Q

incomplete dominance

A

phenotype of the heterozygote is intermediate to the phenotypes of the two homozygotes

99
Q

codominance

A

phenotype of the heterozygote includes phenotypes of both homozygotes

100
Q

incomplete penetrance

A

when less than 100% of a given genotype shows the phenotype it is supposed to

101
Q

variable expressivity

A

the gene shows variation in the level of expression of the phenotype, but all who have the genotype show the phenotype to some level. ex: marfan syndrome

102
Q

viability variations

A

some genetic variations lead to changes in life expectancy or fetal death

103
Q

universal donor

A

type o

104
Q

universal receiver

A

type ab

105
Q

gene interactions

A

when multiple genes influence a single trait

106
Q

wild type

A

phenotype (or gene) found in nature

107
Q

mutant or variant

A

contains a mutation

108
Q

nomenclature: mutation is recessive

A

abbreviation is not capitalized

109
Q

nomenclature: if mutation is dominant

A

gene abbreviation is capitalized

110
Q

epistasis

A

when a gene at one location affects the expression of a gene at another location

111
Q

dominant epistasis (squash color example)

A

dominant allele of one gene masks expression of another gene. 12:3:1 ratio

112
Q

recessive epistasis (horse coat color example)

A

recessive allele of one gene masks expression of another gene. 9:4:3 ratio

113
Q

duplicate recessive epistasis (snail example)

A

9:7 ratio

114
Q

duplicate dominant epistasis (seed capsule example)

A

15:1 ratio

115
Q

duplicate interaction (pig coat example)

A

two separate gene pairs both
influence the same trait. 9:6:1 ratio

116
Q

dominant and recessive epistasis

A

13:3

117
Q

autosomes

A

pair of chromosomes common to both sexes

118
Q

sex chromosomes

A

pair of chromosomes different between each sex

119
Q

males are called the what in reference to their sex

A

heterogametic sex

120
Q

women are called the what in reference to their sex

A

homogametic sex

121
Q

primary pseudoautosomal region

A

top tip of sex chromosomes

122
Q

secondary pseudoautosomal region

A

bottom tip of sex chromosomes

123
Q

where are x and y chromosomes homologous

A

pseudoautosomal regions

124
Q

insects with haploidy

A

male bees are n female bees are 2n

125
Q

haplodiploidy

A

sex is determined by number of chromosomes

126
Q

environmental sex determination

A

can change via temp, location (limpets), etc

127
Q

sexual phenotype in drosophila: XX

A

female

128
Q

sexual phenotype in drosophila: XY

A

male

129
Q

sexual phenotype in drosophila: XO

A

male

130
Q

sexual phenotype in drosophila: XXY

A

female

131
Q

sexual phenotype in drosophila: XXX

A

metafemale

132
Q

sexual phenotype in drosophila: XXXY

A

metafemale

133
Q

sexual phenotype in drosophila: XX with three haploid sets of autosomes

A

intersex

134
Q

sexual phenotype in drosophila: XO with three haploid sets of autosomes

A

metamale

135
Q

sexual phenotype in drosophila: XXXX

A

metafemale

136
Q

in humans: XO

A

Turner’s Syndrome

137
Q

Turner’s Syndrome

A

Underdeveloped sex organs, sterile, short, web of skin from neck to shoulder, heart abnormalities, hearing impairment, IQ can be near normal but often reduced, frequency = 1/2500 live female births

138
Q

in humans: XXY

A

Klinefelter’s Syndrome

139
Q

Klinefelter’s Syndrome

A

Underdeveloped sex organs, sterile, tall and lanky, some breast development mild IQ reduction, frequency = 1/1000 male births

140
Q

in humans: XYY

A

Jacob’s Syndrome

141
Q

Jacob’s Syndrome

A

tall, acne, behavioral problems, mild developmental delay

142
Q

sex chromosome aneuploidy

A

where an individual has an abnormal number of sex chromosomes (X and Y)

143
Q

what causes sex chromosome aneuploidy?

A

nondisjunction of sex chromosomes

144
Q

Morgan’s experiments

A

eye color in flies is sex-linked

145
Q

Bridge’s experiments

A

revealed nondisjunction of sex chromosomes causes abnormal distribution.

146
Q

obligate carrier - carries gene but doesn’t have trait

A

clear with dot in middle

147
Q

asymptomatic carrier

A

clear with diagonal slash

148
Q

(pedigree) autosomal recessive traits

A

appear equally in males and females and skip generations, and are more likely to appear in progeny of related parents

149
Q

(pedigree) autosomal dominant traits

A

appear equally in males and females, do not skip generations, unaffected persons don’t transmit trait, affected persons have at least one affected parent

150
Q

(pedigree) x-linked recessive traits

A

appear more commonly in males. affected male does not pass trait to sons, but can pass allele to daughter. daughter can pass allele to sons who are affacted.

151
Q

(pedigree) x-linked dominant traits

A

do not skip generations. affected males pass the trait to no sons and all of their daughters. affected females (heterozygous) pass trait to half of all progeny

152
Q

(pedigree) y-linked traits

A

only appear in males, and all male offspring are affected

153
Q

trait is dominant if

A

2 affected individuals have unaffected offspring

154
Q

trait is recessive if

A

2 unaffected individuals have affected offspring

155
Q

if the trait is sex-linked recessive

A

affected females will give trait to all male offspring

156
Q

if the trait is sex-linked dominant

A

affected males will give trait to all female offspring

157
Q

prenatal genetic testing

A

ultrasound, amniocentesis, chorionic villus sampling, maternal blood testing

158
Q

preimplantation genetic testing

A

usually done in IVF

159
Q

postnatal genetic testing

A

Alzheimer’s (APOE4), Breast Cancer (BRCA), Huntington’s Disease

160
Q

studying twins can help

A

assess environmental factors

161
Q

concordance in twins is high for

A

heart attack, epilepsy, arthritis, MS

162
Q

concordance in twins is low for

A

cancer, death by infection

163
Q

NASA’s Twin Study

A

showed that gene expression, telomere dynamics, DNA disruption, carotid artery thickening, ocular changes, and some cognitive functions do not go back after 6 months.

Genetics (3 decks)

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