BLD 204 EXAM 4 ACTUAL QUESTIONS AND ANSWERS
WITH COMPLETE SOLUTIONS GRADED A++
What is fragile X syndrome?
a mutation that involves CGG triplet to repeat in FMR1, affects mostly males, females
that have it do have premature ovarian failure
Triplet Repeat Disorders
fragile x
huntington's disease
charcot-marie-tooth disease
What is a transcriptional mutation
block of DNA upstream of gene or 5' end
can shut off transcription
what do mitochondrial disorders affect and what are some examples
-affects skeletal muscles, heart, brain
- example: leber's hereditary optic atrophy
what are epigenetics
modulation of gene expression without actual alterations in the DNA sequence
prader-willi vs angelman affects
-prader-willi: mental retardation, short statue, hypotonia, obesity
-angelman: mental retardation, ataxic gait, seizers, inappropriate laughter
where do prader-willi and angelman come from
, prader-willi: from mother
angelman: from father
what is tay-sachs disease
accumulation of a ganglioside in brain, mainly affects neurons
-acute disease lasts 3-6 months: blindness, progressive weakness, then death 2-3
years later
what is toxicology
the science of poisons, distribution, effects, mechanisms, and physical agents
what is poison about
poison is all about the dosage of it
what are xenobiotics
exogenous chemicals that are foreign to the body
absorbed by inhalation, skin exposure, ingestion
what is cytochrome p-450
found in ER of liver cells, skin, lungs, GI mucosa
production of ROS
what are particulates
<10 micrometers get into alveoli and cause inflammation
lead poisoning
-binds to proteins
-interferes with Ca metabolism
-toxic to nervous system
-inhibits healing of fractures
WITH COMPLETE SOLUTIONS GRADED A++
What is fragile X syndrome?
a mutation that involves CGG triplet to repeat in FMR1, affects mostly males, females
that have it do have premature ovarian failure
Triplet Repeat Disorders
fragile x
huntington's disease
charcot-marie-tooth disease
What is a transcriptional mutation
block of DNA upstream of gene or 5' end
can shut off transcription
what do mitochondrial disorders affect and what are some examples
-affects skeletal muscles, heart, brain
- example: leber's hereditary optic atrophy
what are epigenetics
modulation of gene expression without actual alterations in the DNA sequence
prader-willi vs angelman affects
-prader-willi: mental retardation, short statue, hypotonia, obesity
-angelman: mental retardation, ataxic gait, seizers, inappropriate laughter
where do prader-willi and angelman come from
, prader-willi: from mother
angelman: from father
what is tay-sachs disease
accumulation of a ganglioside in brain, mainly affects neurons
-acute disease lasts 3-6 months: blindness, progressive weakness, then death 2-3
years later
what is toxicology
the science of poisons, distribution, effects, mechanisms, and physical agents
what is poison about
poison is all about the dosage of it
what are xenobiotics
exogenous chemicals that are foreign to the body
absorbed by inhalation, skin exposure, ingestion
what is cytochrome p-450
found in ER of liver cells, skin, lungs, GI mucosa
production of ROS
what are particulates
<10 micrometers get into alveoli and cause inflammation
lead poisoning
-binds to proteins
-interferes with Ca metabolism
-toxic to nervous system
-inhibits healing of fractures
