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Advanced Pathophysiology > Genetics/Stress > Flashcards

Genetics/Stress Flashcards

1
Q

maternal or paternal copy of autosomes is inactivated and remains in this inactive state in all of the somatic cells

A

Genetic Imprinting

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2
Q

deletion of about 4 million base pairs of the long arm of chromosome 15 when inherited from the FATHER

A

Prader-Willis Syndrome

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3
Q

deletion of about 4 million base pairs of the long arm of chromosome 15 when inherited from the MOTHER

A

Angelman Syndrome

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4
Q 
Features of Syndrome:
short stature
hypotonia
small hands & feet
obesity
mild-moderate intellectual disability
A

Prader-Willis Syndrome

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5
Q 
Features of Syndrome:
severe intellectual ability
seizures
ataxic gait
bouts of uncontrolled laughter
A

Angelman Syndrome

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6
Q

Prevalence of Prader-Willis & Angelman

A

1 in 15,000

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7
Q

the deletions that cause ______ & _______ are indistinguishable at the DNA sequence level and affect the same group of genes

A

Angelman & Prader-Willis Syndrome

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8
Q

state of affairs arising when a person relates to situations in certain ways

A

Stress

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9
Q

the optimal steady-state

A

Homeostasis

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10
Q

physiologic systems are dynamic and capable of changing set-points after exposure to stress

A

Allostasis

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11
Q

individualized cumulative effects of stressors that exist in people’s lives and influence their physiologic responses

A

Allostatic Load

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12
Q

exaggerated pathophysiologic responses to stress

A

Allostatic Overload

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13
Q

Mediators & Biomarkers of __________:
glucocorticoid
catecholmines
proinflammatory cytokines

A

Allostatic Overload

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14
Q

catecholamines

A

epinephrine & norepinephrine

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15
Q

part of the interdependent processes system that moderates stress

A

coping

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16
Q

nonspecific response to noxious stimuli

A

General Adaptation Syndrome (GAS)

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17
Q

stage of GAS:
CNS arousied and body defenses are mobilized
“fight or flight”

A

Alarm Stage

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18
Q

stage of GAS:

mobilization contributes to “fight or flight”

A

Resistance/Adaptation Stage

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19
Q

stage of GAS:
continuous stress causes progressive breakdown of compensatory mechanisms (acquired adaptations)
breakdown of homeostasis
marks onset of certain diseases

A

Exhaustion Stage

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20
Q

diseases that are onset by the exhaustion stage of GAS

A

Diseases of Adaptation

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21
Q

first physical components activated by stressor alarming

A

Hypothalamus & Sympathetic Nervous System

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22
Q

hormones responsible for starting Resistance/Adaptation Stage of GAS

A

epinephrine, norepinephrine, cortisol

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23
Q

results of continued stress and unsuccessful adaptation

A

impaired immune response
heart failure
kidney failure
death

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24
Q

physiological response derived from psychologic stressors

A

Reactive Response

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25
Q

physiological responses developed in anticipation of disruption of homeostasis

A

Anticipatory Response

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26
Q

physiological stress response produced by learned associations of dangerous situations

A

Conditional Response

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27
Q

feeling of general unpleasant arousal after exposure to life events that manifest as physiologic, emotional, cognitive, and behavioral changes

A

Psychological Distress

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28
Q

places affected individual at risk for immunological deficits

A

Depression associated with adverse life events

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29
Q

increases the risk of cardiovascular disease, Type 2 DM, cancer + other somatic disorders

A

childhood adversity (abuse, neglect, dysfunctional family, low SES)

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30
Q

disease with no carrier status

A

Huntington

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31
Q

study of how the consciousness (psycho) & the brain/spinal cord (neuro) and the body’s defenses against infection and abnormal cell division (immunology) interact

A

Psychoneuroimmunology (PNI)

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32
Q

46, XY

A

Normal Male

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33
Q

46, XX

A

Normal Female

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34
Q

number of autosomes

A

44

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35
Q

49, XXXXY
48, XXXY
47, XXY

A

Klinefelter

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36
Q

47, XX

A

Trisomy

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37
Q

47, XX, 21

A

Down Syndrome

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38
Q

45, X

A

Turner

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39
Q

92, XX

A

Tetraploidy

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40
Q

hormone secreted from the locus ceruleus that causes emotional responses to stress

A

norepinephrine

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41
Q

stress hormones released by the sympathetic nervous system

A

neuropeptide Y (NPY)
norepinephrine
epinephrine

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42
Q

action of posterior pituitary in response to a stressor

A

increased ADH/vasopressin

water retention

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43
Q

action of anterior pituitary in response to stressor

A

increased ACTH to adrenal cortex

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44
Q

hormone released by adrenal cortex in response to stressor

A

cortisol

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45
Q

hormone responsible for:
vasoconstriction
vascular growth factor
angiogenic factor

A

neuropeptide Y (NPY)

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46
Q 
hormone responsible for:
BP increase
pupil dilation
piloerection (goosebumps)
sweating
arteriole smooth muscle contraction
A

norephinephrine

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47
Q 
hormone responsible for:
bronchodilation
increased lipolysis
increased cardiac output
pancreas effects
liver effectsx
A

epinephrine

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48
Q

epinephrine effect on pancreas

A

decreased insulin
decreased glucose uptake in skeletal muscle/adipose tissue
increased glucagon
increased glucogenesis

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49
Q

epinephrine effect on liver

A

decreased glycogenn synthesis

increased glycogenolysis

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50
Q

decreased insulin + increased glucagon in pancreas lead to …

A

increased blood glucose

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51
Q

decreased glycogen synthesis + increased glycogenolysis in liver lead to…

A

increased blood glucose

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52
Q 
hormone responsible for:
BP increase
cardiac output increase
decrease of luteinizing hormones, estradiol, testosterone
amino acid in blood increase
increased extremity lipolysis
lymphoid tissue atrophy
face/trunk lypogenesis
A

cortisol

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53
Q

results of atrophy of lymphoid tissue

A

antiinflammatory or proinflammatory

immunosuppression or enhanced humoral immunity

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54
Q

hormone released by the adrenal medulla

A

epinephrine

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55
Q

hormone released by the adrenal cortex

A

cortisol

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56
Q

increased blood flow

increased glucose metabolism

A

catecholamine effect on brain

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57
Q

increased rate and force of contraction

peripheral vasoconstriction

A

catecholamine effect on CV system

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58
Q

bronchodilation

A

catecholamine effect on pulmonary system

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59
Q 
increased glycogenolysis
increased contraction
increased dilation of muscle vasculature
decreased glucose uptake and utilization
       -decreased insulin release
A

catecholamine effect on skeletal muscle

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60
Q

increased glucose production

increased glycogenesis

A

catecholamine effect on liver

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61
Q

increased lipolysis

decreased glucose uptake

A

catecholamine effect on adipose tissue

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62
Q

decreased blood flow

A

catecholamine effect on skin

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63
Q

decreased protein synthesis
decreased smooth muscle contraction
increased renin release
increased gastrointestinal sphincter tone

A

catecholamine effect on GI & GU systems

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64
Q

decreased # of natural killer cells

A

catecholamine effect on lymphoid tissue

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65
Q

inhibition or stimulation of activity

A

catecholamine effect on macrophages

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66
Q

disorders caused by prolonged cortisol elevation

A 
GI ulcers
sarcopenia
osteoporosis
Type 2 DM
cancer
high cholesterol
Alzheimer
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67
Q

Turner Syndrome is caused by ________.

A

nondisjunction during meiosis

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68
Q

adaptive physiological response to stress

A

allostasis

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69
Q

chance of exhibiting phenotype

A

penetrance

70
Q

exact allele composition for a single-gene trait

A

genotype

71
Q

observed expression of a single-gene trait

A

phenotype

72
Q

Recessive single-gen traits are only expressed when…

A

person is homozygous for the two gene alleles

73
Q

Genotype and phenotype are ALWAYS the same for…

A

recessive traits

74
Q

Dominant single-gene traits are _______ expressed.

A

always

75
Q

cells contain fewer or more chormosomes than normal

A

aneuploidy

76
Q

more than 2 sets of ALL chromosomes

A

polyploidy

77
Q

actual # of chromosomes present in a single-cell nucleus @ mitosis

A

ploidy

78
Q

organized arrangement of all the chromosomes in the cell during metaphase of mitosis

A

Karyotype

79
Q

Normal Human Ploidy

A

46 total chromosomes

23 pairs

80
Q

alternative form or variation of a gene at a specific location

A

allele

81
Q

normal karyotype

A

euploid

82
Q

too few chromosomes

A

monosomy

83
Q

too many chromosomes on one pair

A

trisomy

84
Q

formation of sperm

A

spermatogenesis

85
Q

formation of ova

A

oogenesis

86
Q

Spermatogenesis converts diploid precursor germ cells into…

A

haploid sperm

87
Q

Oogenesis converts diploid precursor germ cells into…

A

haploid ova

88
Q

Spermatogenesis begins at…

A

puberty

89
Q

Spermatogenesis stops when?

A

never

90
Q

Spermatogenesis process is…

A

continuous

91
Q

Oogenesis begins at…

A

fetal life

92
Q

Oogenesis stops when?

A

menopause

93
Q

Oogenesis process is…

A

cyclical

94
Q

Completion of Meiosis I & II in spermatogenesis takes…

A

days - weeks

95
Q

Completion of Meiosis I & II in ootogenesis takes…

A

years after fertilization

96
Q

Prophase I of spermatogenesis takes…

A

hours - days

97
Q

Prophase I of oogenesis takes…

A

years

98
Q

In spermatogenesis, one diploid precursor cell can result in formation of…

A

4 haploid sperm capable of fertilizing mature ovum

99
Q

In oogenesis, one diploid precursor cell can result in formation of…

A

1 haploid ovum capable of being fertilized by mature sperm + up to 3 haploid polar bodies

100
Q

Equal distribution of cytoplasm during meiosis occurs in…

A

spermatogenesis

101
Q

cell division that reduces the chromosome number and has multiple stages/steps

A

meiosis

102
Q

male/female distribution of autosomal dominant traits

A

equal

103
Q

male/female distribution of autosomal recessive traits

A

equal

104
Q

male/female distribution of sex-linked recessive traits

A

greater in males (maybe only males)

105
Q

carrier status of autosomal dominant traits

A

none

106
Q

carrier status of autosomal recessive traits

A

carriers with one affected allele may express the trait

107
Q

carrier status of sex-linked recessive traits

A

50% risk of mom passing to offspring
100% risk of dad passing to females
0% risk of dad passing to males

108
Q

generation appearance of autosomal dominant traits

A

seen in all generations

109
Q

generation appearance of autosomal recessive traits

A

allelle may be in family for many generations w/o expression

110
Q

generation appearance of sex-linked recessive traits

A

if no males born, could be many generations w/o expression

111
Q

risk of inheritance of autosomal dominant traits

A

heterozygous 50% chance

homozygous 50% chance

112
Q

risk of inheritance of autosomal recessive traits

A

2 affected parents 100% chance
family members w/ trait 25% chance
may not appear in all generations

113
Q

risk of inheritance of sex-linked recessive traits

A

no females born to dads 0%

no females born to non-carrier moms 0%

114
Q

Autosomal Dominant Traits/Disorders

A 
A & B blood types
free earlobes
widow's peak
Huntington Dx
Marfan Syndrome
Neurofibromatosis
Rhett Syndrome
115
Q

Autosomal Recessive Traits/Disorders

A 
attached earlobes
O type blood
Cystic Fibrosis
Albinism
Sickle Cell Disease
PKU
116
Q

Sex-Linked Recessive Disorders

A

Duchenne Muscular Dystrophy
Fragile X Syndrome
Hemophilia

117
Q

occurence of gene expression when it’s present

A

penetrance

118
Q

percentage of population with gene mutation who express the trait

A

penetrance rate

119
Q

degree to which a gene is expressed in persons with Autosomal Dominant gene

A

expressivity

120
Q

X-linked recessive disorders are increased in males because…

A

males onle have 1 allele for every X chromosome gene so there’s no balancing allele on Y chromosome

121
Q

means any X-linked allele in males is expressed as dominant

A

hemizygosity

122
Q

X linked recessive disorders have _______ expression in males

A

dominant

123
Q

X linked recessive disorders have _______ expression in females

A

recessive

124
Q

type of tranmission that occurs when several genes are working together or during a combination of genes and environment

A

complex disease transmission

125
Q

type of transmission that occurs with dominant or recessive traits

A

Mendelian pattern transmission

126
Q

in Mendelian pattern transmission, gene expression is based on __________

A

probability

127
Q

In complex disease transmission, gene variants ______ or ________ from phenotype.

A

add or subtract

128
Q

changes that happen on or above the genome expression

A

epigenome

129
Q

epigenetic modification occurs without….

A

DNA sequence changes

130
Q

Causes of Epigenetic Modification

A 
development
environmental chemical exposure 
drugs
aging
diet
131
Q

Results of Epigenetic Modification

A

cancer
autoimmune dx
mental disorders
diabetes

132
Q

chemical process that silences the genes from one parent- turns off expression of the gene(s)

A

methylation

133
Q

process that tends to diminish the positive charfe of histones, reducing their binding strength to negatively charged DNA and making the DNA more accessible for transcription

A

histone acetylation

134
Q

process that increases or decreases the strength of bonding between DNA & histones

A

histone methylation

135
Q

positively charged proteins around which negatively charged DNA molecules are wound that facilitate compaction of DNA into the nucleus

A

histones

136
Q

gene components that alter the activity of oncogenes and tumor-suppressor genes

A

micro RNA (miRNA)

137
Q

mother’s or father’s copy of autosomal gene is inactivated and remains in this inactivated state in all the somatic cells of the individual

A

imprinting

138
Q

imprinting disease in which a deletion of about 4 million base pairs of the long arm of chromosome 15 are deleted inherited from the father

A

Prader-Willi Syndrome

139
Q

imprinting disease in which a deletion of about 4 million base pairs of the long arm of chromosome 15 are deleted inherited from the mother

A

Angelman Syndrome

140
Q

Symptoms of Prader-Willi Syndrom

A

truncal obesity
small hands/feet
inverted V-shaped upper lip

141
Q

Symptoms of Angelman Syndrome

A

characteristic posture
ataxic gait
bouts of uncontrolled laughter

142
Q

inheritance of an extra copy of each chromosome resultsing in 69 chromosomes per cell

A

triploidy

143
Q

cells having 92 chromosomes

A

tetrapoloidy

144
Q

inheritance of an extra copy of one chromosome

A

trisomy

145
Q

pair of chromosomes fail to separate properly during meiosis

A

nondisjunction

146
Q

only one copy of chromosome in a diploid cell

A

monosomy

147
Q

presence of single X chromosome and no homologous X or Y chromosome

A

Turner’s Syndrome

148
Q

Turner’s Syndrome affect only…

A

females

149
Q

females w/ Turner’s Syndrorme are sterile because…

A

gonadal streaks are present instead of ovaries

150
Q 
Features of Syndrome:
short stature
neck webbing
wide nipples
coarctation of the aorta
nb webbed feet
sparse hair
normal IQ
A

Turner’s Syndrome

151
Q

Most cases of Turner’s syndrome are caused by the loss of the _______ X chromosome

A

paternal

152
Q

doubling of chromosomal material

A

duplication

153
Q

broken chromosomes and loss of DNA

A

deletion

154
Q

condition caused by deletion of part of the short arm of chromosome 15

A

Cri du Chat

155
Q 
Syndrome Features:
male appearance
sterile
gynecomastia
small testes
sparse body hair
high pitched voice
tall stature
mental deficits
A

Klinefelter

156
Q

condition where 2/3 of the cases are caused by nondisjunction of X chromosomes

A

Klinefelter

157
Q

prevalence of Klinefelter syndrome

A

1 in 1000 male births

158
Q

a condition in which 2 or more different karyotypes are consistently present in one individual; some cells have normal karyotype and some have normal karyotype

A

mosaicism

159
Q

prevalence of Down Syndrome

A

1 in 800 births

160
Q 
Syndrome Features:
low IQ
short stature
low nasal bridge
epicanthal folds
protruding tongue
flat/low ears
hypotonia
CHD
decreased ability to fight URI
Alzheimer Dx
A

Down Syndrome

161
Q

condition where 90% of cases are caused by nondisjunction + 3% caused by translocations

A

Down Syndrome

162
Q

percentage of Down Syndrome cases caused by nondisjunction in egg cell

A

90-95%

163
Q

percentage of Down Syndrome cases caused by paternal nondisjunction

A

5-10%

164
Q

Trisomy 13 is _______ Syndrome

A

Patau

165
Q

prevalence of Patau Syndrome

A

1 in 10,000 births

166
Q 
Syndrome Features:
extra digits
digit fusion
abnormal iris
small/close eyes
organ rotation
brain fusion
deafness
vision problems
seizures
apnea
A

Patau Syndrome (Trisomy 13)

167
Q

Trisomy 18 is _______ Syndrome

A

Edward

168
Q

prevalence of Edward Syndrome

A

1 in 3,000 births

169
Q

Edward Syndrome is more prevalent in ______

A

females

170
Q 
Syndrome Features:
same as Trisomy 13 +
strawberry shaped head
low ears
clenched fist
overlapping fingers
palmar crease
arched fingerprints
Rocker bottom feet
heart defects
kidney problems
esophogeal atresia
omphalocele
inguinal/umbilical hernias
brain cysts
A

Edward Syndrome (Trisomy 18)

Advanced Pathophysiology (10 decks)

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