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genetics > Block 2 > Flashcards

Block 2 Flashcards

1
Q

what is DNA fingerprinting

A

differing allele bonding pattern between individuals

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2
Q

when a probe is used, we only see what area on gel electrophoresis

A

where the primer binds

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3
Q

what is restriction length polymorphisms

A

change in length due to restriction enzyme activity

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4
Q

what sequence does EcoRI recognize

A

GAATTC

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5
Q

what is involved in western blot

A

probe protein gel with antibody probe

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6
Q

what is involved in northern blot

A

probe DNA gel with RNA probe

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7
Q

what is involved with southern blot

A

probe DNA gel with DNA probe

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8
Q

how does gel electrophoresis differ from dot blot in the results that can be obtained

A

gel- size and charge
dot- presence/absence

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9
Q

in a dot blot, DNA is added onto __ instead of to gel as in gel electrophoresis

A

blot paper

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10
Q

in a dot blot, the darker the dot, the __ (greater or lower) the presence

A

greater

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11
Q

what is allele specific oligonucleotides (dot blots)

A

use of a probe specific to a gene to determine presence or absence of a gene

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12
Q

how do microarrays (gene chips) work

A

it contains different probes which detect different sequences at once

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13
Q

what is PCR

A

in vitro DNA replication between 2 pre-determined primer sites

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14
Q

what are the 3 steps to PCR

A

heat sample DNA above 92C to denature dsDNA (breaking of H bonds)
sample is cooled to 60C to anneal primers
sample is heated to 72C for DNA replication

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15
Q

what is RT-PCR (reverse transcriptase-PCR)

A

production of cDNA from mRNA by reverse transcriptase

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16
Q

what are microsatellites

A

repetitive DNA sequences mostly in non-coding regions

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17
Q

what is dideoxy ATP

A

ATP missing the 3’ hydroxyl groups, therefore being unable to form phosphodiester bond to the next nucleotide

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18
Q

what are dideoxy NTPs known as (N= any)

A

chain terminators- stop DNA replication

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19
Q

what happens if DNA is synthesized in the presence of dideoxy ATP, will synthesis continue or stop

A

stop

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20
Q

what occurs during G1

A

cell growth (organelles and cytoplasm double)

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21
Q

what occurs during G2

A

continued cell growth
DNA checked for errors in replication

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22
Q

what occurs during S of cell cycle

A

DNA replication

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23
Q

what occurs during M of cell cycle

A

cell separates

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24
Q

what phase of the cell cycle is G0 a part of

A

G1

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25
Q

what does the microtubule organizing center produce

A

spindle fibers

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26
Q

a centrosome contains 2 __ that produce __ that make up __ that connect to the __ on the __ of a chromosome

A

centrioles
microtubules
spindle fibers
kinetochore
centromere

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27
Q

what happens in prophase

A

chromosomes condense

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28
Q

what happens in prometaphase

A

nuclear envelope dissolves
spindle fibers form
chromosomes move towards midline

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29
Q

what dimers make up spindle fibers

A

alpha and beta tubulin

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30
Q

what happens during anaphase

A

sister chromatids separate

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31
Q

what happens during telophase

A

chromosomes uncondense
new nuclear membrane forms

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32
Q

5-fluoruricil acts in what phase of the cell cycle

A

S

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33
Q

what does 5-fluoruricil inhibit

A

nucleotide synthesis

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34
Q

methotrexate acts in what stage of the cell cycle

A

S

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35
Q

what does methotrexate inhibit

A

nucleotide synthesis

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36
Q

what stage of the cell cycle does bleomycin act

A

G2

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37
Q

what does bleomycin do

A

binds GC rich DNA and produces free radicals

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38
Q

what stage of the cell cycle does paclitaxel (taxol) act

A

M

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39
Q

what does paclitaxel (taxol) do

A

binds microtubule proteins

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40
Q

what stage of the cell cycle does vincristine/vinblastine act

A

M

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41
Q

what does vincristine/vinblastine do

A

bind microtubules proteins

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42
Q

what do cyclophosphamide and cisplatin do

A

crosslink purines in DNA

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43
Q

methotrexate inhibits production and synthesis of what

A

folate
adenosine

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44
Q

what stage of meiosis does crossing over occur

A

prophase I

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45
Q

what is the crossing over complex known as

A

synaptonemal complex

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46
Q

what are the 5 stages of crossing over

A

leptotene
zygotene
pachytene
diplotene
diakinesis

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47
Q

what occurs during leptotene of crossing over

A

chromosomes thin
(start of prophase)

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48
Q

what occurs during zygotene of crossing over

A

synapse occurs between aligned chromosomes via synaptonemal complex

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49
Q

what occurs during pachytene of crossing over

A

chromosomes condense enabling DNA exchange

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50
Q

what happens during diplotene of crossing over

A

chiasma forms

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51
Q

what happens during diakinesis of crossing over

A

nuclear membrane dissociates
(end of prophase)

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52
Q

what are the only 2 forms of ploidy that are viable

A

haploid
diploid

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53
Q

what are the only 3 viable autosomal trisomies

A

13 (Patau)
18 (Edwards)
21 (Down)

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54
Q

in what stage of the cell cycle does nondisjuntion occur

A

anaphase I or II

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55
Q

if nondisjunction occurred during anaphase I __% of the offspring would show trisomy

A

100

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56
Q

If nondisjunction occurred during anaphase II __% of the offspring would show trisomy

A

33

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57
Q

If nondisjunction occurred during anaphase I __% of the gametes would show trisomy

A

50

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58
Q

If nondisjunction occurred during anaphase II __% of the gametes would show trisomy

A

25

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59
Q

what does the G1 checkpoint check for

A

cell size

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60
Q

what does the G2 checkpoint check for

A

DNA damage

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61
Q

what does the M checkpoint check for

A

spindle microtubules

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62
Q

regulation of the cell cycle is through __ proteins which activate ___

A

cyclin
CDKs

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63
Q

__ concentrations are stable through the cell cycle, so regulation is by __ concentration

A

CDK
cyclin

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64
Q

cyclin binds to __ which causes phosphorylation, ___ (activating or deactivating) the protein

A

CDK
activating

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65
Q

when does a malignant mass matastisize

A

when it gets into the bloodstream and crosses tissues

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66
Q

carcinoma develops from __ tissue

A

epithelial

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67
Q

leukemia develops from __

A

blood

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68
Q

sarcoma develops from __

A

bones, muscles, CT

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69
Q

lymphoma develops from __

A

lymph

70
Q

do proto-oncogenes go through a gain or loss of function when mutated

A

gain= increased cell growth

71
Q

are oncogenes dominant or recessive

A

dominant

72
Q

RET (receptor tyrosine kinase) is an example of what type of gene

A

oncogene

73
Q

what is the cause of sipple syndrome (multiple endocrine neoplasia/MEN2A)

A

RET (receptor tyrosine kinase) mutation leading to an always on signal

74
Q

what are the symptoms of Sipple syndrome

A

tumors in parathyroid and adrenal glands
kidney stones

75
Q

how does MET (a receptor for tyrosine kinase) activate

A

binds hepatic growth factors

76
Q

what carcinomas does a MET mutation lead to

A

hepatic and renal carcinoma

77
Q

what type of protein is RAS (a proto-oncogene)

A

GTP binding

78
Q

what happens if RAS is on

A

signal is sent continuously causing continuous cell growth

79
Q

what does Philadelphia chromosome result from

A

translocation between 9q34 and 22q11 causing the fusion of ABL and BCR

80
Q

what is the main cause of chronic myeloid leukemia

A

philadelphia chromosome

81
Q

what is c-myc proto-oncogene responsible for

A

malignant cell growth

82
Q

what does the Bcl-2 proto-oncogene do

A

inhibit apoptosis

83
Q

what is the gene mutated in half of all cancers

A

p53

84
Q

what is the main function of p53

A

stop the cell cycle or cause apoptosis if repair is not possible

85
Q

for initiation of apoptosis in p53, there is increase in activity of __ and decrease in activity of __

A

Bax
Bcl-2

86
Q

tumor suppressor gene mutations lead to a gain or loss of function

A

loss of function

87
Q

retinoblasta (Rb) controls what checkpoint of the cell cycle

A

G1

88
Q

if Rb is hypophosphorylated, E2F transcription factor is active or inactive

A

inactive

89
Q

what is E2F required for

A

progression through G1

90
Q

what checkpoint does p53 act in

A

G1

91
Q

NF1 tumor suppressor gene inactivates __, leading to __ (increased or decreased) cell division

A

Ras
decreased

92
Q

are tumor suppressor proteins dominant or recessive

A

recessive

93
Q

what does the two-hit hypothesis say

A

a mutation in one allele won’t cause cancer on it’s own but a mutation in a second results in a 2 hit

94
Q

removal of a functional allele leads to the cell being ___

A

hemizygous (loss of heterozygosity)

95
Q

Wilms tumor in children is due to what

A

loss of heterozygosity

96
Q

a methylated tumor suppressor gene is active or inactive

A

inactive

97
Q

what cause Lynch syndrome

A

failure of mismatch repair in transcription

98
Q

in a pedigree, the first individual to be identified to be affected is called the __

A

proband

99
Q

how do you identify an autosomal dominant on a pedigree chart

A

non gender specific
present in all generations

100
Q

what is recurrence risk

A

the probability that the offspring will express genetic disease

101
Q

what are 5 examples of autosomal dominant diseases

A

familial hypercholesterolemia
huntingtons
hemolytic anemia
acute intermittent porphyria
neurofibromatosis
marfan syndrome

A
Dominant
Family
Hugs
Happily
At
New
Marriages

102
Q

how to identify autosomal recessive on a pedigree

A

not in every generation
non-gender specific

103
Q

a homozygote child is most often produced by the mating of mom__ and dad__ for autosomal recessive disease, leading to __% of offspring affected

A

heterozygous
heterozygous
25

104
Q

what is consanguinity

A

sharing a common ancestor

105
Q

what are 4 examples of autosomal recessive diseases

A

sickle cell anemia
cystic fibrosis
tay-sachs
phenylketouria

A Recent Sick Child Takes Food

106
Q

is male to male transmission seen in x-linked recessive

A

no, dad will donate Y chromosome

107
Q

what are 7 examples of X-linked recessive diseases

A

red green color blindness
Lesch-Nyhan syndrome
duchenne muscular dystrophy
menke’s disease
G6PD deficiency
ornithine transcarbamoylase (OTC) deficiency
hemophilia A and B

X-Relatives Rarely Love Doing Me Good, Only Hate

108
Q

what type of mutation is duchenne muscular dystrophy

A

frameshift

109
Q

what are the symptoms of duchenne muscular dystrophy

A

waddling gait
gower sign

110
Q

what is the Gower sign seen in muscular dystrophy

A

use of upper extremities to help stand up

111
Q

when is duchenne muscular dystrophy diagnosed

A

1.5-2 years when child should start to walk

112
Q

what type of inheritance is Becker muscular dystrophy

A

X linked

113
Q

what type of mutation is Becker muscular dystrophy

A

nonframeshift deletion (insertion, deletion, or missense)

114
Q

why does Becker muscular dystrophy present less severe than Duchenne

A

duchenne is a frameshift mutation (everything after the point of mutation is affected)
Becker is a nonframeshift mutation so there is milder and slower clinical progression

115
Q

what is X inactivation/lyonization

A

dosage compensation to equalize the amount of protein encoded by X chromosome in males and females through epigenetic silencing

116
Q

X inactivation is seen as a __

A

Barr body

117
Q

what does it mean to say females are mosaic in regards to the active X chromosome

A

one whole X or half of one X, half of the other X
*can be different in each cell but once the decision is made, it continues in that cell through all it’s divisions

118
Q

X chromosome inactivation is permanent in __ cells and reversible in __ cells

A

somatic
germ line

119
Q

Barr bodies are composed of ___ through __

A

heterochromatin
methylation

120
Q

methylation of regions on the X chromosome is a method of ___

A

epigenetic silencing

121
Q

what type of inheritance can manifesting heterozygotes be seen

A

X linked recessive disease

122
Q

what is involved in females as manifesting heterozygote

A

female displays x linked recessive trait due to skewed lyonization

123
Q

what is an example of X linked dominance disease

A

fragile X

124
Q

what are the symptoms of fragile X

A

mental retardation
large ears
macro-orchidism
large jaw

125
Q

what is the most common inherited cause of mental retardation

A

fragile X

126
Q

what does a dominant X disease look like on pedigree

A

no male-male transmission
non-gender specific

127
Q

what is mitochondrial inheritance transmission

A

transmission occurs only through affected mothers to all children

128
Q

what is heteroplasmy seen during mitochondrial inheritance diseases

A

a mutation occurs in some mitochondria, causing an uneven distribution of mutated mitochondrial to the offspring
the SEVERITY of mitochondrial disease differs based on the amount of mutated mitochondria the offspring received from mother

129
Q

what are 3 examples of mitochondrial inheritance diseases

A

MELAS
MERRF
Leber hereditary optic neuropathy

130
Q

what is allele heterogeneity

A

different mutations within the same locus leading to multiple mutant alleles and different diseases

131
Q

what is penetrance

A

percentage of individuals who have gene and show the phenotype

ex: 100 individuals with gene, 75 show physical feature= 75%

132
Q

what is incomplete penetrance

A

someone who has the genotype but does not show they phenotype
*disease is present but did not present

133
Q

what is pleiotropy

A

one gene having many different effects

134
Q

marfan syndrome is an example of __ due to exhibition of problems in multiple organ systems such as in joints, eyes, heart, and skeleton

A

pleiotropy

135
Q

what is locus heterogeneity

A

mutations on different locus leading to the same disease
ex: mutation on chromosome 7 or 17 both result in osteogenesis imperfecta

136
Q

what are 3 factors involved in anticipation

A

increase in disease severity
earlier onset of disease
increase in trinucleotide repeats
*trinucleotide expansion mutation is the main indicator

137
Q

Huntington disease expansion is present on which chromosome number

A

4

138
Q

what are the symptoms of huntington disease

A

movement abnormality
emotional disturbance
cognitive impairment
death 10-15 after onset

139
Q

what are 4 examples of anticipation diseases

A

huntingtons
fragile X
myotonic dystrophy
Friedreich ataxia

140
Q

what are symptoms of myotonia dystrophy

A

muscle loss
cardiac arrhythmia
testicular atrophy
frontal baldness
cataracts

141
Q

what are symtpoms of Friedreich ataxia

A

ataxia
hypertonic cardiomyopathy
axonal sensory neuropathy
kyphoscoliosis

142
Q

Prader Willi syndrome is caused by what

A

deletion on paternal chromosome 15q of an imprinted locus

143
Q

Angelman syndrome is caused by what

A

deletion on maternal chromosome 15q of an imprinted locus

144
Q

imprinting involves what epigenetic silencing mechanism

A

methylation

145
Q

what are 3 symptoms of prader willi syndrome

A

failure to thrive at birth but overtime (1-2 years) leads to obesity with developmental and mental delay
almond shape eyes

146
Q

the gene that is missing in prader willi (15q) normally encodes for what

A

component of mRNA splicing

147
Q

the gene missing in angelman syndrome normally encodes for what

A

ubiquitin pathway gene

148
Q

what test is used to test for deletion on paternal/maternal chromosome 15

A

fluorescence in situ hybridization (FISH)

149
Q

what is a symptoms for angelman syndrome

A

puppet-like posture of limbs

150
Q

what are the 2 possible genetic caused of prader willi and angelman syndrome

A

imprinting and deletion
uniparental disomy

151
Q

what is uniparental disomy

A

2 copies of a chromosome come from one parent instead of a copy from both mom and dad
*one parent gives extra, one parent gives none

152
Q

what is cytogenetics

A

change in a chromosome that is large enough to be seen through a microscope (ex: extra or loss of chromosome)

153
Q

karyotypes visualize chromosomes in what stage of mitosis

A

metaphase

154
Q

what is G-banding

A

use of Giemsa dye that binds DNA to visualize chromosome banding pattern based on heterochromatin (dark) and euchromatin (light)

155
Q

what is the difference between karyotypes and FISH

A

karyotype used for large deletions
FISH used for microdeletions

156
Q

acrosentric chromosomes appearance

A

little p arm, big q arm

157
Q

what chromosomes are acrocentric

A

13, 14, 15, 21, 22

158
Q

what are 2 major forms of aneuoploidy

A

monosomy (loss of a chromosome)
trisomy (gain of a chromosome)

159
Q

how is trisomy 21 written

A

47, XY, +21
47, XY, +21

160
Q

what are the main symptoms of Down syndrome

A

short stature
epicanthal fold
clinodactaly (abnormal bent/curved fingers)
flat facial profile
depressed nasal bridge
epicanthal fold (upper eyelid skin fold covers the inner corner of they eye)
single transverse palmar crease
brushfield spots are margin of iris

161
Q

what are 4 common comorbidities of Down syndrome

A

Alzheimer disease (early onset due to 3 copies of amyloid precursor protein gene)
acute lymphoblastic leukemia
duodenal atresia
atrial septal defects

162
Q

what are 2 the main tests for Down syndrome

A

karyotype
quadruple test

163
Q

what are the 4 markers found in the quadruple test that indicates high risk for Down syndrome

A

during 2nd trimester screening test there is:
increased hCG (above reference range)
increased inhibin A
decreased unconjugated estriol
decreased alpha-fetoprotein (AFP)

164
Q

how is trisomy 18 written

A

47, XY, +18
47, XX, +18

165
Q

what are the main symptoms of Edward syndrome (trisomy 18)

A

clenched fist with overlapping fingers
rocker-bottom feet
elongated skull
webbing of 2nd and 3rd toes
*joint defects (contracture- curving)

166
Q

what is arthrogryposis

A

congenital joint curving in 2 or more areas of the body
*seen in Edward syndrome

167
Q

how is trisomy 13, Patau syndrome, written

A

47, XY, +13
47, XX, +13

168
Q

what are the main symptoms of Patau syndrome

A

cleft lip/palate (midline fusion defects)
polydactyly
*more severe/midline defects

169
Q

what are the 4 markers found in the quadruple test that indicates high risk for Edwards syndrome

A

during 2nd trimester screening test there is:
normal inhibin A
decreased hCG (above reference range)
decreased unconjugated estriol
decreased alpha-fetoprotein (AFP)

170
Q

what are the 4 markers found in the quadruple test that indicates high risk for Patau syndrome

A

during 2nd trimester screening test there is:
decreased hCG (above reference range)
normal inhibin A
normal estriol
normal alpha-fetoprotein (AFP)

genetics (4 decks)

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