Genetics/Stress Flashcards
(170 cards)
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
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
3
Q
deletion of about 4 million base pairs of the long arm of chromosome 15 when inherited from the MOTHER
A
Angelman Syndrome
4
Q
Features of Syndrome: short stature hypotonia small hands & feet obesity mild-moderate intellectual disability
A
Prader-Willis Syndrome
5
Q
Features of Syndrome: severe intellectual ability seizures ataxic gait bouts of uncontrolled laughter
A
Angelman Syndrome
6
Q
Prevalence of Prader-Willis & Angelman
A
1 in 15,000
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
8
Q
state of affairs arising when a person relates to situations in certain ways
A
Stress
9
Q
the optimal steady-state
A
Homeostasis
10
Q
physiologic systems are dynamic and capable of changing set-points after exposure to stress
A
Allostasis
11
Q
individualized cumulative effects of stressors that exist in people’s lives and influence their physiologic responses
A
Allostatic Load
12
Q
exaggerated pathophysiologic responses to stress
A
Allostatic Overload
13
Q
Mediators & Biomarkers of __________:
glucocorticoid
catecholmines
proinflammatory cytokines
A
Allostatic Overload
14
Q
catecholamines
A
epinephrine & norepinephrine
15
Q
part of the interdependent processes system that moderates stress
A
coping
16
Q
nonspecific response to noxious stimuli
A
General Adaptation Syndrome (GAS)
17
Q
stage of GAS:
CNS arousied and body defenses are mobilized
“fight or flight”
A
Alarm Stage
18
Q
stage of GAS:
mobilization contributes to “fight or flight”
A
Resistance/Adaptation Stage
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
20
Q
diseases that are onset by the exhaustion stage of GAS
A
Diseases of Adaptation
21
Q
first physical components activated by stressor alarming
A
Hypothalamus & Sympathetic Nervous System
22
Q
hormones responsible for starting Resistance/Adaptation Stage of GAS
A
epinephrine, norepinephrine, cortisol
23
Q
results of continued stress and unsuccessful adaptation
A
impaired immune response
heart failure
kidney failure
death
24
Q
physiological response derived from psychologic stressors
A
Reactive Response
25
physiological responses developed in anticipation of disruption of homeostasis
Anticipatory Response
26
physiological stress response produced by learned associations of dangerous situations
Conditional Response
27
feeling of general unpleasant arousal after exposure to life events that manifest as physiologic, emotional, cognitive, and behavioral changes
Psychological Distress
28
places affected individual at risk for immunological deficits
Depression associated with adverse life events
29
increases the risk of cardiovascular disease, Type 2 DM, cancer + other somatic disorders
childhood adversity (abuse, neglect, dysfunctional family, low SES)
30
disease with no carrier status
Huntington
31
study of how the consciousness (psycho) & the brain/spinal cord (neuro) and the body's defenses against infection and abnormal cell division (immunology) interact
Psychoneuroimmunology (PNI)
32
46, XY
Normal Male
33
46, XX
Normal Female
34
number of autosomes
44
35
49, XXXXY
48, XXXY
47, XXY
Klinefelter
36
47, XX
Trisomy
37
47, XX, 21
Down Syndrome
38
45, X
Turner
39
92, XX
Tetraploidy
40
hormone secreted from the locus ceruleus that causes emotional responses to stress
norepinephrine
41
stress hormones released by the sympathetic nervous system
neuropeptide Y (NPY)
norepinephrine
epinephrine
42
action of posterior pituitary in response to a stressor
increased ADH/vasopressin
| water retention
43
action of anterior pituitary in response to stressor
increased ACTH to adrenal cortex
44
hormone released by adrenal cortex in response to stressor
cortisol
45
hormone responsible for:
vasoconstriction
vascular growth factor
angiogenic factor
neuropeptide Y (NPY)
46
```
hormone responsible for:
BP increase
pupil dilation
piloerection (goosebumps)
sweating
arteriole smooth muscle contraction
```
norephinephrine
47
```
hormone responsible for:
bronchodilation
increased lipolysis
increased cardiac output
pancreas effects
liver effectsx
```
epinephrine
48
epinephrine effect on pancreas
decreased insulin
decreased glucose uptake in skeletal muscle/adipose tissue
increased glucagon
increased glucogenesis
49
epinephrine effect on liver
decreased glycogenn synthesis
| increased glycogenolysis
50
decreased insulin + increased glucagon in pancreas lead to ...
increased blood glucose
51
decreased glycogen synthesis + increased glycogenolysis in liver lead to...
increased blood glucose
52
```
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
```
cortisol
53
results of atrophy of lymphoid tissue
antiinflammatory or proinflammatory
| immunosuppression or enhanced humoral immunity
54
hormone released by the adrenal medulla
epinephrine
55
hormone released by the adrenal cortex
cortisol
56
increased blood flow
| increased glucose metabolism
catecholamine effect on brain
57
increased rate and force of contraction
| peripheral vasoconstriction
catecholamine effect on CV system
58
bronchodilation
catecholamine effect on pulmonary system
59
```
increased glycogenolysis
increased contraction
increased dilation of muscle vasculature
decreased glucose uptake and utilization
-decreased insulin release
```
catecholamine effect on skeletal muscle
60
increased glucose production
| increased glycogenesis
catecholamine effect on liver
61
increased lipolysis
| decreased glucose uptake
catecholamine effect on adipose tissue
62
decreased blood flow
catecholamine effect on skin
63
decreased protein synthesis
decreased smooth muscle contraction
increased renin release
increased gastrointestinal sphincter tone
catecholamine effect on GI & GU systems
64
decreased # of natural killer cells
catecholamine effect on lymphoid tissue
65
inhibition or stimulation of activity
catecholamine effect on macrophages
66
disorders caused by prolonged cortisol elevation
```
GI ulcers
sarcopenia
osteoporosis
Type 2 DM
cancer
high cholesterol
Alzheimer
```
67
Turner Syndrome is caused by ________.
nondisjunction during meiosis
68
adaptive physiological response to stress
allostasis
69
chance of exhibiting phenotype
penetrance
70
exact allele composition for a single-gene trait
genotype
71
observed expression of a single-gene trait
phenotype
72
Recessive single-gen traits are only expressed when...
person is homozygous for the two gene alleles
73
Genotype and phenotype are ALWAYS the same for...
recessive traits
74
Dominant single-gene traits are _______ expressed.
always
75
cells contain fewer or more chormosomes than normal
aneuploidy
76
more than 2 sets of ALL chromosomes
polyploidy
77
actual # of chromosomes present in a single-cell nucleus @ mitosis
ploidy
78
organized arrangement of all the chromosomes in the cell during metaphase of mitosis
Karyotype
79
Normal Human Ploidy
46 total chromosomes
| 23 pairs
80
alternative form or variation of a gene at a specific location
allele
81
normal karyotype
euploid
82
too few chromosomes
monosomy
83
too many chromosomes on one pair
trisomy
84
formation of sperm
spermatogenesis
85
formation of ova
oogenesis
86
Spermatogenesis converts diploid precursor germ cells into...
haploid sperm
87
Oogenesis converts diploid precursor germ cells into...
haploid ova
88
Spermatogenesis begins at...
puberty
89
Spermatogenesis stops when?
never
90
Spermatogenesis process is...
continuous
91
Oogenesis begins at...
fetal life
92
Oogenesis stops when?
menopause
93
Oogenesis process is...
cyclical
94
Completion of Meiosis I & II in spermatogenesis takes...
days - weeks
95
Completion of Meiosis I & II in ootogenesis takes...
years after fertilization
96
Prophase I of spermatogenesis takes...
hours - days
97
Prophase I of oogenesis takes...
years
98
In spermatogenesis, one diploid precursor cell can result in formation of...
4 haploid sperm capable of fertilizing mature ovum
99
In oogenesis, one diploid precursor cell can result in formation of...
1 haploid ovum capable of being fertilized by mature sperm + up to 3 haploid polar bodies
100
Equal distribution of cytoplasm during meiosis occurs in...
spermatogenesis
101
cell division that reduces the chromosome number and has multiple stages/steps
meiosis
102
male/female distribution of autosomal dominant traits
equal
103
male/female distribution of autosomal recessive traits
equal
104
male/female distribution of sex-linked recessive traits
greater in males (maybe only males)
105
carrier status of autosomal dominant traits
none
106
carrier status of autosomal recessive traits
carriers with one affected allele may express the trait
107
carrier status of sex-linked recessive traits
50% risk of mom passing to offspring
100% risk of dad passing to females
0% risk of dad passing to males
108
generation appearance of autosomal dominant traits
seen in all generations
109
generation appearance of autosomal recessive traits
allelle may be in family for many generations w/o expression
110
generation appearance of sex-linked recessive traits
if no males born, could be many generations w/o expression
111
risk of inheritance of autosomal dominant traits
heterozygous 50% chance
| homozygous 50% chance
112
risk of inheritance of autosomal recessive traits
2 affected parents 100% chance
family members w/ trait 25% chance
may not appear in all generations
113
risk of inheritance of sex-linked recessive traits
no females born to dads 0%
| no females born to non-carrier moms 0%
114
Autosomal Dominant Traits/Disorders
```
A & B blood types
free earlobes
widow's peak
Huntington Dx
Marfan Syndrome
Neurofibromatosis
Rhett Syndrome
```
115
Autosomal Recessive Traits/Disorders
```
attached earlobes
O type blood
Cystic Fibrosis
Albinism
Sickle Cell Disease
PKU
```
116
Sex-Linked Recessive Disorders
Duchenne Muscular Dystrophy
Fragile X Syndrome
Hemophilia
117
occurence of gene expression when it's present
penetrance
118
percentage of population with gene mutation who express the trait
penetrance rate
119
degree to which a gene is expressed in persons with Autosomal Dominant gene
expressivity
120
X-linked recessive disorders are increased in males because...
males onle have 1 allele for every X chromosome gene so there's no balancing allele on Y chromosome
121
means any X-linked allele in males is expressed as dominant
hemizygosity
122
X linked recessive disorders have _______ expression in males
dominant
123
X linked recessive disorders have _______ expression in females
recessive
124
type of tranmission that occurs when several genes are working together or during a combination of genes and environment
complex disease transmission
125
type of transmission that occurs with dominant or recessive traits
Mendelian pattern transmission
126
in Mendelian pattern transmission, gene expression is based on __________
probability
127
In complex disease transmission, gene variants ______ or ________ from phenotype.
add or subtract
128
changes that happen on or above the genome expression
epigenome
129
epigenetic modification occurs without....
DNA sequence changes
130
Causes of Epigenetic Modification
```
development
environmental chemical exposure
drugs
aging
diet
```
131
Results of Epigenetic Modification
cancer
autoimmune dx
mental disorders
diabetes
132
chemical process that silences the genes from one parent- turns off expression of the gene(s)
methylation
133
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
histone acetylation
134
process that increases or decreases the strength of bonding between DNA & histones
histone methylation
135
positively charged proteins around which negatively charged DNA molecules are wound that facilitate compaction of DNA into the nucleus
histones
136
gene components that alter the activity of oncogenes and tumor-suppressor genes
micro RNA (miRNA)
137
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
imprinting
138
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
Prader-Willi Syndrome
139
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
Angelman Syndrome
140
Symptoms of Prader-Willi Syndrom
truncal obesity
small hands/feet
inverted V-shaped upper lip
141
Symptoms of Angelman Syndrome
characteristic posture
ataxic gait
bouts of uncontrolled laughter
142
inheritance of an extra copy of each chromosome resultsing in 69 chromosomes per cell
triploidy
143
cells having 92 chromosomes
tetrapoloidy
144
inheritance of an extra copy of one chromosome
trisomy
145
pair of chromosomes fail to separate properly during meiosis
nondisjunction
146
only one copy of chromosome in a diploid cell
monosomy
147
presence of single X chromosome and no homologous X or Y chromosome
Turner's Syndrome
148
Turner's Syndrome affect only...
females
149
females w/ Turner's Syndrorme are sterile because...
gonadal streaks are present instead of ovaries
150
```
Features of Syndrome:
short stature
neck webbing
wide nipples
coarctation of the aorta
nb webbed feet
sparse hair
normal IQ
```
Turner's Syndrome
151
Most cases of Turner's syndrome are caused by the loss of the _______ X chromosome
paternal
152
doubling of chromosomal material
duplication
153
broken chromosomes and loss of DNA
deletion
154
condition caused by deletion of part of the short arm of chromosome 15
Cri du Chat
155
```
Syndrome Features:
male appearance
sterile
gynecomastia
small testes
sparse body hair
high pitched voice
tall stature
mental deficits
```
Klinefelter
156
condition where 2/3 of the cases are caused by nondisjunction of X chromosomes
Klinefelter
157
prevalence of Klinefelter syndrome
1 in 1000 male births
158
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
mosaicism
159
prevalence of Down Syndrome
1 in 800 births
160
```
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
```
Down Syndrome
161
condition where 90% of cases are caused by nondisjunction + 3% caused by translocations
Down Syndrome
162
percentage of Down Syndrome cases caused by nondisjunction in egg cell
90-95%
163
percentage of Down Syndrome cases caused by paternal nondisjunction
5-10%
164
Trisomy 13 is _______ Syndrome
Patau
165
prevalence of Patau Syndrome
1 in 10,000 births
166
```
Syndrome Features:
extra digits
digit fusion
abnormal iris
small/close eyes
organ rotation
brain fusion
deafness
vision problems
seizures
apnea
```
Patau Syndrome (Trisomy 13)
167
Trisomy 18 is _______ Syndrome
Edward
168
prevalence of Edward Syndrome
1 in 3,000 births
169
Edward Syndrome is more prevalent in ______
females
170
```
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
```
Edward Syndrome (Trisomy 18)
