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OLD "MBS 601" > Exam 1 > Flashcards

Exam 1 Flashcards

1
Q

What are the 3 major components of a cell?

A
  1. cytoplasm
  2. nucleus
  3. plasma membrane
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2
Q

Why is cell compartmentalization important?

A

allows control of concentrations of ions, substates, cofactors, and enzymes

distinct chemical reactions need to take place

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3
Q

What is the difference between cytosol and cytoplasm?

A

cytosol: gel-like liquid surrounding organelles
cytoplasm: cytosol + organelles (entire inside of cell) NOT NUCLEUS

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4
Q

All cells have a __________

A

plasma membrane

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5
Q

What is the oldest type of cell?

A

prokaryotes

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6
Q

What 4 things do eukaryotes and prokaryotes have in common?

A
  1. DNA
  2. ribosomes
  3. cytoplasm
  4. plasma membrane
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7
Q

What cells lack organellees?

A

prokaryotes

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8
Q

what cells are ONLY single celled?

A

prokaryotes

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9
Q

What is distinct between a Gram negative and positive bacteria?

A

positive: one membrane (stained)
negative: two membranes

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10
Q

How many membranes does the nucleus have?

A

2

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11
Q

What organelle is the nucleus membrane continuous with?

A

ER

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12
Q

What are the 2 exceptions to the nucleus rule for eukaryotes?

A

red blood cells (no nucleus)
muscle cells (multiple nuclei)

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13
Q

What is the nuclear lamina?

A

intermediate filaments providing structural support and movement

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14
Q

What is the nucleolus?

A

compartment where ribosomal DNA is transcribed and ribosomes assemble

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15
Q

What is the function of ribosomes?

A

protein translation

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16
Q

What organelle has their own ribosomes and DNA?

A

mitochondria

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17
Q

What is the difference between ribosomes for eukaryotes v. prokaryotes?

A

eukaryotes have more and larger subunits

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18
Q

___________ is maintained during vesicular transport

A

topology

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19
Q

What happens in the rough ER?

A

ribosomes translocate proteins to ER lumen

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20
Q

What happens in the smooth ER?

A

lipid synthesis

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21
Q

What are muscle cell ER’s called?

A

sarcoplasmic reticulum

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22
Q

Where does CORE glycosylation occur?

A

ER

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23
Q

Where does glycosylation occur?

A

ER and golgi

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24
Q

What is dolichol phosphate?

A

initial building block for core glycosylation in the ER.

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25
Q

What is the most acidic organelle?

A

lysosomes

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26
Q

Where does protein sorting occur?

A

Golgi

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27
Q

What ribosomal unit is common in prokaryotes and eukaryotes?

A

5S

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28
Q

What do lysosomes do?

A

break down macromolecules

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29
Q

_________ is the study of inherited traits and their variation and transmission

A

genetics

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30
Q

___________ is the way genes transmit biochemical, physical, and behavior traits from parent to offspring

A

heredity

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31
Q

__________ are produced by an interaction between genes and their environment

A

traits

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32
Q

Mendelian traits are caused by how many genes?

A

one

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33
Q

What are the 3 components of DNA?

A
  1. phosphate
  2. sugar
  3. bases
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34
Q

What are exons and introns?

A

exons: coding region of gene
introns: NONcoding region of gene

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35
Q

____________ are the basic unit of chromosome packaging

A

nucleosomes

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36
Q

_________ DNA connects nucleosomees

A

linker

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37
Q

What are the 5 histone proteins for condensing DNA?

A

H2A
H2B
H3
H4
H1

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38
Q

What are centromeres?

A

where sister chromatids are connected and spindles attach

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39
Q

What are telomeres?

A

end caps of chromosomes

essential for pairing homologous chromosomes

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40
Q

How many chromosomes are in diploid (2n) and haploid (1n)?

A

diploid 2n = 46
haploid 1n=23

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41
Q

What is the p and q arm of the chromosome?

A

p = short arm
q = long arm

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42
Q

What is the labeling process of 9q21.33 for chromosomes?

A

9=chromsome
a=arm
2=region
1=band
33=sub band

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43
Q

All cells except _________ contain the entire genome

A

RBC

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44
Q

What is epigenetics?

A

heritable changes in gene expression that occurs independently of the DNA sequence

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45
Q

What is an example of epigenetics?

A

chromatin modification
non-coding RNA

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46
Q

Are germline or somatic mutations inherited?

A

germline

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47
Q

What is a point mutation?

A

changes of a single nucleotide in the DNA

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48
Q

What are transition mutations?

A

pyrimidine to another pyrimidine
purine to another purine

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49
Q

What are transversion mutation?

A

pyrimidine to purine
purine to pyrimidine

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50
Q

What are the pyrimidines?

A

C
T

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51
Q

What are the purines?

A

A
G

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52
Q

What is a silent mutation?

A

no change in amino acid

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53
Q

What is a nonsense mutation?

A

stop codon generated

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54
Q

What is a missense mutation?

A

amino acid change

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55
Q

What is an insertion/deletion mutation?

A

1 or more nucleotides are inserted or deleted

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56
Q

What is a frameshift mutation?

A

insertion/deletion alters the codon reading frame so the wrong amino acid

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57
Q

What kind of mutation happens in cystic fibrosis?

A

point mutation in G551D (codes for wrong amino acid)

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58
Q

What is the Online Mendelian Inheritance in Man (OMIM)?

A

database that catalogs genes known to cause disorders or traits

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59
Q

What is a gene pool?

A

sum of all alleles in a population

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60
Q

What is the founders affect?

A

reduction of genetic variation that results when a new colony is established by small subset from the larger population

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61
Q

What is DNA profiling?

A

compares DNA sequences among individuals to establish or rule out identity

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62
Q

Why is exome sequencing better?

A

more sensitive than whole-DNA sequencing

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63
Q

What is precision medicine?

A

consults DNA information to select drugs that work best for the individual

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64
Q

What gene is affect in sickle cell anemia?

A

Beta globin

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65
Q

What is the acronym for labeling chromosomes?

A

CARBS

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66
Q

What signal tells cells to divide?

A

cyclin

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67
Q

Has cell size increases, volume __________

A

decreases

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68
Q

What happens at G1 in interphase of mitosis?

A

cell growth

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69
Q

What happens at G0 in interphase of mitosis?

A

limbo stage

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70
Q

What happens at S phase in interphase of mitosis?

A

DNA replicates
Spindles synthesized

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71
Q

What happens during Prophase of mitosis?

A

nuclear membrane break down
DNA coils
microtubules organize into spindles

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72
Q

What are kinetochore?

A

connects microtubules to centromeres

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73
Q

What happens during metaphase of mitosis?

A

spindles attach
sister chromatids align

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74
Q

What happens during anaphase of mitosis?

A

centromeres divide
chromatids separate to poles

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75
Q

What happens in Anaphase A in mitosis?

A

kinetochore MT pull chromatids to spindle poles

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76
Q

What happens in Anaphase B in mitosis?

A

astral MT pull chromatids towards cell wall
interpole MT slide past each other

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77
Q

What happens during telophase in mitosis?

A

spindles fall apart
nuclear membrane reforms

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78
Q

What happens during cytokinesis in mitosis?

A

seperate into daughter cells

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79
Q

What is the input and output of mitosis?

A

input: parent cell (2n)
output: 2 identical daughter cells (2n)

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80
Q

What is endoreduplication?

A

cell cycle without cytokinesis
(causes increase in cell size)

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81
Q

What does Propodium Iodide do?

A

reveals what stage of the cell cycle the cell is in by looking at the ploidy

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82
Q

During mitosis when is the cell diploid (2n)?

A

interphase
cytokinesis

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83
Q

During mitosis when is the cell tetraploid (4n)?

A

prophase
metaphase
anaphase
telophase

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84
Q

What are the 2 main goals of meiosis?

A
  1. reduce number of chromosomes in half
  2. introduce diversity
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85
Q

Meiosis has 2 divisions, what type of division is each?

A
  1. reduction division (46–>23) diploid to haploid
  2. equation division (4 cells from 2 cells in meiosis 1)
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86
Q

What is the overall input and output of meiosis?

A

input: 2n parent cell
output: 4 identical daughter cells 1n

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87
Q

What cells does mitosis and meiosis occur in?

A

mitosis: somatic
meiosis: mature germ cells

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88
Q

What are the 5 stages of prophase in Meiosis 1?

A
  1. leptotene
  2. zygotene
  3. pachytene
  4. diplotene
  5. diakinesis
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89
Q

What is the acronym for the 5 stages of prophase in meiosis 1?

A

Lazy
Zebras
Push
Dipping
Donky

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90
Q

What happens during leptotene in prophase 1?

A

chromosomes condense and coalesce

91
Q

What happens during zygotene in prophase 1?

A

synaptomeal complex forms

92
Q

What happens during pachytene in prophase 1?

A

bivalent forms and crossing over occurs

93
Q

What happens during diplotene in prophase 1?

A

synaptomeal complex disassociates

94
Q

What happens during diakinesis in prophase 1?

A

nucleolus disappears
chromosomes coil

95
Q

What happens during metaphase I of meiosis I?

A

homologous pairs align
independent assortment

96
Q

What happens during anaphase I of meiosis I?

A

homologous pairs separate

97
Q

What happens during telophase I of meiosis I?

A

chromosomes move to opposite poles
nuclear envelope forms

98
Q

What happens during prophase II of meiosis II?

A

chromosomes condense

99
Q

What happens during metaphase II of meiosis II?

A

chromosomes align

100
Q

What happens during anaphase II of meiosis II?

A

centromeres divide
chromosomes move to poles

101
Q

What happens during telophase II of meiosis II?

A

nuclear envelope develop
separate into individual cells

102
Q

What is special about Y chromosome palidromes?

A

allows Y chromosomes to repair themselves

103
Q

What are Mendel’s 3 laws?

A
  1. law of segregation
  2. law of independent assortment
  3. law of dominance
104
Q

What is the law of segregation?

A

alleles segregate randomly into gametes

105
Q

What is the law of independent assortment?

A

alleles get sorted into gametes independently of one another

106
Q

Is autosomal dominant or recessive gain of function and give an example?

A

dominant
toxic form of protein

107
Q

On a pedigree, what form of inheritance is this…
- doesn’t skip generations
- affects all sexes equally

A

autosomal dominant

108
Q

What is an example of an autosomal dominant disease?

A

polydactyly

109
Q

On a pedigree, what form of inheritance is this…
- parents are heterozygous
- skips generations

A

autosomal recessive

110
Q

What is an example of an autosomal recessive disease?

A

albanism

111
Q

Factors that alter single-gene phenotypic ratio…

death before reproduction

A

lethal alleles

112
Q

Factors that alter single-gene phenotypic ratio…

multiple alleles will produce variation in phenotype

A

multiple alleles

113
Q

Factors that alter single-gene phenotypic ratio…

intermediate of two phenotypes

A

incomplete dominance

114
Q

Factors that alter single-gene phenotypic ratio…

expressing both phenotypes

A

codominance

115
Q

Factors that alter single-gene phenotypic ratio…

one gene masks the other phenotype

A

epistasis

116
Q

Factors that alter single-gene phenotypic ratio…

genotype does not produce the expected phenotype

A

penetrance

117
Q

Factors that alter single-gene phenotypic ratio…

genotype has a phenotype with varying intensities

A

expressivity

118
Q

Factors that alter single-gene phenotypic ratio…

one gene controls several functions

A

pleiotrophy

119
Q

Factors that alter single-gene phenotypic ratio…

environmental cause but looks inherited

A

phenocopy

120
Q

Factors that alter single-gene phenotypic ratio…

different genotypes cause same phenotype

A

genetic heterogeneity

121
Q

What is an example of lethal alleles?

A

achondroplasia

122
Q

What is an example of multiple alleles?

A

cystic fibrosis

123
Q

What is an example of incomplete dominance?

A

FH (familial)

124
Q

What is an example of codomiance?

A

ABO blood group

125
Q

What is an example of epistasis?

A

Bombay

126
Q

What is an example of penetrance?

A

polydactyly

127
Q

What is an example of expressivity?

A

Huntingtons (repeat expansion disease)

128
Q

What is an example of pleiotrophy?

A

Marphan
Ataxia

129
Q

What is an example of phenocopy?

A

HIV

130
Q

What is an example of genetic heterogeneity?

A

ALS
Alzheimers

131
Q

What are pseudoautosomal regions?

A

homologous regions on X and Y where genes are shared so crossing over can occur

132
Q

What does not occur in the MSY region of the Y chromosome?

A

crossing over

133
Q

SRY and AZF on the Y chromosome are important for what?

A

fertility

134
Q

What is the SRY region on the Y chromosome important for?

A

male specific genes

135
Q

What happens if a point mutation occurs on the SRY in the Y chromosome?

A

XY females

136
Q

What happens if a translocation mutation occurs on the SRY in the Y chromosome?

A

XX males

137
Q

On a pedigree, what form of inheritance is this…

-only in males
- all sons are affected
- daughters of the affected male wont be affected

A

Y-linked inheritance

138
Q

Is there crossing over on mitochondria chromosomes?

A

no

139
Q

What kind of chromosomes have increased rates of mutation?

A

mtDNA

140
Q

On a pedigree, what form of inheritance is this…

  • always expressed in males
  • females must be “aa” to express
  • often skips generations
A

X-linked recessive

141
Q

On a pedigree, what form of inheritance is this…

  • females mainly affected
  • rare
  • passed on to daughters
A

X-linked dominant

142
Q

What are sex-limited traits?

A

present only in one sex

143
Q

What is an example of sex-limited trait?

A

beard growth

144
Q

what are sex-influenced traits?

A

dominant in one sex and recessive in the other

145
Q

What is an example of sex-influenced trait?

A

baldness

146
Q

What is the purpose of X-inactivation?

A

balances gene expression in females

147
Q

What is genetic mosacism?

A

patches of tissue that differ in expression of x-linked genes
ex: cats

148
Q

When can genetic mosaicism be reversed?

A

germ cell formation

149
Q

What is a manifesting heterzygote?

A

expressive recessive trait even though individual is heterozygous

150
Q

What are Barr bodies used for?

A

determine sex (only in females)

151
Q

In the parent of origin effect, what is genomic imprinting?

A

a gene is silenced because it is inherited from the male or female parent

152
Q

What is the molecular mechanism of genomic imprinting?

A

DNA methylation

153
Q

genomic imprinting is maintained during ________ but removed during _______

A

mitosis
meiosis

154
Q

If a gene is hypomethylated it is _____________

A

expressed

155
Q

If a gene is hypermethylated it is _____________

A

supressed

156
Q

What is uniparental disomy?

A

inheritance of 2 chromosomes from the same parent

157
Q

What two events must occur for uniparent disomy to occur?

A
  1. nondisjunction of the same chromosome in both sperm and egg
  2. trisomy then chromosome loss
158
Q

What are the 3 types of genetic testing methods?

A
  1. Cytogenetic
  2. Molecular genetic
  3. Biochemical genetic
159
Q

What does cytogenetic testing look for?

A

Large changes in DNA (chromosomes changes)

Can use microscopy

160
Q

What does molecular genetic testing look for?

A

Small changes in DNA (mutations)

161
Q

What does biochemical genetic testing look for?

A

Changes in gene products (like enzymes)

Used for new born screenings

162
Q

What is cytogenetics?

A

Study of chromosomes

163
Q

What is chromatin?

A

DNA and histones

164
Q

When is cytogenetics studying during the cell cycle?

A

Metaphase

165
Q

What is CENP-A?

A

Homolog to H3

166
Q

What is the metacentric centromere positioning?

A

Centromere in the middle

167
Q

What is submetacentric in centromere positioning?

A

Off center

168
Q

What is the acrocentric centromere positioning?

A

Unequal arms

169
Q

What is the telocentric centromere positioning?

A

Centromere at the ends

170
Q

What are subtelomeres?

A

Transition regions between telomeres and the actual chromosome

171
Q

What is the stain for Q banding?

A

Quinacrine fluorescence

172
Q

What glows fluorescent in Q-banding?

A

A/T

173
Q

What is the stain for G,R,T, and C-banding?

A

Giemsa

174
Q

What is stained dark in G-banding?

A

A/T

175
Q

What is stained dark on R-banding?

A

G/C

176
Q

What is stained dark in T-banding (telomeres)?

A

G/C

177
Q

What is stained dark in C-banding (centromere)?

A

A/T

178
Q

What is FISH (fluorescence in situ hybridization)?

A

Chromosomes are labeled by binding fluorescence to complementary DNA

Can identify chromosome differences

179
Q

What is the chromosomal abnormality isochromosome?

A

Identical arms

180
Q

What is the chromosomal abnormality chromothripisis?

A

Chromosome shatters

181
Q

What is the mitotic cause of polyploidy?

A

Multiple fertilizations OR diploid gamete

182
Q

What is mitotic cause of aneuploidy?

A

Nondisjunction

183
Q

What is euploidy?

A

Correct number of chromosomes

184
Q

What happens if nondisjunction occurs in mitosis?

A

Mosaicism

185
Q

What happens if nondisjunction occurs in meiosis I?

A

Both copies of homologous chromosomes in one gamete

186
Q

What happens if nondisjunction occurs in Meiosis II?

A

Sister chromatids in one gamete

187
Q

What syndrome is trisomy 18?

A

Edwards

188
Q

What syndrome is trisomy 13?

A

Patau

189
Q

What syndrome is trisomy 21?

A

Down’s syndrome

190
Q

What syndrome is 45X?

A

Turners

191
Q

What syndrome is 47XYY?

A

Jacob’s

192
Q

What syndrome is 47XXY?

A

Klienfelter

193
Q

What syndrome is 47XXX?

A

Trisomy X

194
Q

What is the difference between chromosome inversions PERICENTRIC and PARACENTRIC?

A

Pericentric: inversion that includes centromere
Paracentric: does not include centromere

195
Q

Is chromosome duplication inherited?

A

No

196
Q

Chromsome duplication is an example of copy _____________

A

Number variants

197
Q

What is difference between chromosomal translocation RECIPROCAL and ROBERTSONIAN?

A

Reciprocal: 2 non-homologous chromosomes exchange parts
Robersonian: 2 non-homologous acrocentric (unequal arms) long arms fuse and short arms lost

198
Q

What is an isochromsome mutation?

A

Centromeres divide along the wrong plane causing identical arms

199
Q

What exposure causes ring chromsomes?

A

Radiation

200
Q

What is copy number variance?

A

Number of copies for a gene on a chromosome is not 2n

201
Q

What is a CNV disease example?

A

Charchot-Marie-Tooth Disease

202
Q

What is Charcot-Marie Disease?

A

CNV disease
Gene dosage affect (amount of gene affects phenotype)

203
Q

What is CGH (comparative genomic hybridization)?

A

Finds duplications/deletions which indicate chromosome rearrangement

204
Q

What does PCR+restriction enzymes and Allele specific PCR find?

A

Specific mutations / genes

205
Q

What is a polymorphism?

A

Change in DNA that is less rare than mutations

206
Q

What is gene variant?

A

Used to describe a mutation or a polymorphism interchangeable

207
Q

What is a VUS?

A

Variants with unknown functional affects

208
Q

What are DNA hot spots and 2 examples?

A

Areas on DNA that a prone to mutation
1. Short repeats
2. Palindromes

209
Q

What happens to DNA when exposed to alkylating agents?

A

Removes bases

210
Q

What happens when DNA is exposed to acridine agents?

A

Adds/removes bases

211
Q

What happens to DNA when exposed to X-rays?

A

Breaks chromosomes

212
Q

What happens to DNA when exposed to UV radiation?

A

Creates thymine dimmer

213
Q

What is the mutation for PKU (phenylketonuria)?

A

Loss of enzyme that turns Phe into Tyr

214
Q

What are 2 treatments for PKU (phenylketonuria)?

A
  1. KUVAN
  2. PALYNZIQ
215
Q

What are 3 treatment options for spinal muscular atrophy (SMA)?

A
  1. Spinraza
  2. Evrysdi
  3. Zolgensma
216
Q

Zolgensma uses __________ SMN to treat spinal muscle atrophy

A

Exogenous

217
Q

Spinraza uses ___________ oligonucleotides to treat spinal muscular atrophy?

A

Antisense

218
Q

Why types of drugs are used to treat the CFTR gene in CF?

A

Modular drugs (“—ftor”)

219
Q

What is special about mtDNA?

A

Circular
Maternal
Polycistronic transcription
Replication independent of mitosis

220
Q

What is mitochondrial bottle necking?

A

During production of oocytes, a select number of mtDNA is transferred to each oocyte

221
Q

What is heteroplasmy?

A

Differing number of copies of mutant DNA within a cell/person

222
Q

What is an example of a heteroplasmy disease?

A

MERRF

223
Q

When does independent assortment happen?

A

Metaphase I

224
Q

What happens in G2 of interphase of mitosis?

A

Cell growth
Microtubules assemble
Centrioles form

OLD "MBS 601" (8 decks)

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