NU 318 EXAM 2 STUDY GUIDE WITH
COMPLETE SOLUTION
Why is Family History Important? - ANSWER -helps to determine if an
individual has an increased risk for genetic disorder
-assists with questions related to reproduction
-assists with prevention or life modification is needed
What is an Enzyme? - ANSWER biological catalyst that causes a biochemical
reaction to occur or increases the rate of a specific biochemical reaction
within a cell, body tissue, or organ
What do known mutations in common enzymes result in? - ANSWER
-Accumulation of excess amounts of a specific amino acid (Hyper
aminoacidemia)
-Buildup of a precursor product with lysosomes (Lysosomal storage Disease)
Example of Hyper aminoacidemia Disease - ANSWER Phenylketonuria (PKU)
Example of Lysosomal Storage Disorders - ANSWER -Fabry Disease
-Tay-Sachs
-Gaucher's
Phenylketonuria (PKU) affected gene? - ANSWER -PAH gene mutation
-excessive buildup of phenylalanine
-deficiency of tyrosine
,-Autosomal Recessive
-Severe cognitive impairment
-small stature
-small head size
Fabry Disease - ANSWER -Mutated alpha-galactosidase A gene
-Excess build up of GL-3 in the lysosomes of many tissues
-GL-3 part of recycling of old red blood cells and other cells
-Damages blood vessels and reduces perfusion
-Chronic inflammation, leading to ischemia and tissue/organ failure
-X Linked Recessive
-Usually begins late childhood
-Cold/Heat intolerance
-Eye impairment
-Numbness in fingers and toes
-Reduced organ function
-Premature death (20 to 40)
What is Marfan Syndrome? - ANSWER Connective tissue disorder in which
the gene for fibrillin is mutated, preventing fibrillin form interacting with
collagen and elastic to provide recoil strength to tissues during and after
stretching
, -Autosomal Dominant (HIGH spontaneous mutation rate)
-TOO little Fibrillin
-connective tissue is weak
-Cardiovascular problems are the most common of premature death
-Tall
-loose joints
-spinal curvatures
-small iris
-widens aorta
What is the most important component in management of Marfan
Syndrome? - ANSWER Monitoring and protecting the cardiovascular system
Why should people with Marfan's not play contact sports/strenuous
exercise? - ANSWER Concern of chest getting hit and cardiovascular issues
with the heart tissue being weaker
Difference between a Syndrome & Sequence? - ANSWER Syndrome =
collection of features that occur together
Sequence = ONE anomaly starts chain reaction (Domino Effect), one feature
leads to other features to occur (small jaw leads to tongue down and back
leads to cleft palate)
Genetic Assessments - ANSWER -Head to Toe pattern
-Screen for presence of major and minor anomalies
COMPLETE SOLUTION
Why is Family History Important? - ANSWER -helps to determine if an
individual has an increased risk for genetic disorder
-assists with questions related to reproduction
-assists with prevention or life modification is needed
What is an Enzyme? - ANSWER biological catalyst that causes a biochemical
reaction to occur or increases the rate of a specific biochemical reaction
within a cell, body tissue, or organ
What do known mutations in common enzymes result in? - ANSWER
-Accumulation of excess amounts of a specific amino acid (Hyper
aminoacidemia)
-Buildup of a precursor product with lysosomes (Lysosomal storage Disease)
Example of Hyper aminoacidemia Disease - ANSWER Phenylketonuria (PKU)
Example of Lysosomal Storage Disorders - ANSWER -Fabry Disease
-Tay-Sachs
-Gaucher's
Phenylketonuria (PKU) affected gene? - ANSWER -PAH gene mutation
-excessive buildup of phenylalanine
-deficiency of tyrosine
,-Autosomal Recessive
-Severe cognitive impairment
-small stature
-small head size
Fabry Disease - ANSWER -Mutated alpha-galactosidase A gene
-Excess build up of GL-3 in the lysosomes of many tissues
-GL-3 part of recycling of old red blood cells and other cells
-Damages blood vessels and reduces perfusion
-Chronic inflammation, leading to ischemia and tissue/organ failure
-X Linked Recessive
-Usually begins late childhood
-Cold/Heat intolerance
-Eye impairment
-Numbness in fingers and toes
-Reduced organ function
-Premature death (20 to 40)
What is Marfan Syndrome? - ANSWER Connective tissue disorder in which
the gene for fibrillin is mutated, preventing fibrillin form interacting with
collagen and elastic to provide recoil strength to tissues during and after
stretching
, -Autosomal Dominant (HIGH spontaneous mutation rate)
-TOO little Fibrillin
-connective tissue is weak
-Cardiovascular problems are the most common of premature death
-Tall
-loose joints
-spinal curvatures
-small iris
-widens aorta
What is the most important component in management of Marfan
Syndrome? - ANSWER Monitoring and protecting the cardiovascular system
Why should people with Marfan's not play contact sports/strenuous
exercise? - ANSWER Concern of chest getting hit and cardiovascular issues
with the heart tissue being weaker
Difference between a Syndrome & Sequence? - ANSWER Syndrome =
collection of features that occur together
Sequence = ONE anomaly starts chain reaction (Domino Effect), one feature
leads to other features to occur (small jaw leads to tongue down and back
leads to cleft palate)
Genetic Assessments - ANSWER -Head to Toe pattern
-Screen for presence of major and minor anomalies
