ADVANCED PATHOPHYSIOLOGY EXAM 2
EXAM REVIEW BUNDLED EXAMS
COMPLETE QUESTIONS AND ANSWERS
GRADED APLUS
◉ Familial Adenomatous Polyposis (FAP) mutation
Answer: -colorectal cancer
-inactivation of tumor suppressor gene APC
-fairly rare autosomal dominant
◉ mutation found in breast cancer
Answer: mutations in BRCA1 and BRCA2
normally act as tumor suppressor genes, when mutation occurs,
inhibited tumor suppression results
autosomal dominant with 60-85% penetrance
◉ HNPCC mutation
Answer: -colorectal cancer
-4 mismatch repair genes (MSH2, MLH1, MSH6, PMS2)
-autosomal dominant
,◉ mutation found in hereditary hemochromatosis
Answer: high absorption of iron from intestinal mucosa
P Cys282Tyr
P His63Asp
-autosomal recessive
◉ Mutation found in Alzheimer's disease
Answer: studies show significance in APOE4, APP, PSEN1, PSEN2
◉ Mutation found in PKU (phenylketonuria)
Answer: tested for in newborns
autosomal recessive disorder caused by mutations in PAH gene
◉ Genetics of sickle cell disease
Answer: autosomal recessive
result of mutated hemoglobin molecule
result of point mutation
thymine in place of adenine in 6th codon of beta-chain gene on
chromosome 11
◉ calculate penetrance
,Answer: [(number of individuals with clinical features)/(number of
individuals with disease causing mutation)] x 100
◉ anticipation
Answer: the tendency in certain genetic disorders for individuals in
successive generations to present at an earlier age and/or with more
severe manifestations
◉ Cansanguinity
Answer: genetic relatedness between individuals descended from at
least one common ancestor
◉ genotype
Answer: An organism's genetic makeup
◉ phenotype
Answer: physical characteristics or expression of a gene; the clinical
presentation of an individual with a particular genotype
◉ epigenetics
Answer: the study of influences on gene expression that occur
without a DNA change
the study of biological mechanisms that will switch the genes on and
off
, ◉ what differentiates benign tumors from malignant tumors
Answer: -grow slowly
-have well-defined capsule
-are not invasive
-are well differentiated; look like the tissue from which they arose
-have a low miotic index; dividing cells are rare
-do not metastasize
◉ What differentiates malignant tumors from benign tumors
Answer: -grow rapidly
-are not encapsulated
-invade local structures and tissues
-are poorly differentiated; may not be able to determine tissue of
origin
-high miotic index; many dividing cells
-can spread distantly, often through blood vessels and lymphnodes
◉ What differentiates tumors of epithelial origin from those of
mesenchymal origin
Answer: -carcinoma in situ
EXAM REVIEW BUNDLED EXAMS
COMPLETE QUESTIONS AND ANSWERS
GRADED APLUS
◉ Familial Adenomatous Polyposis (FAP) mutation
Answer: -colorectal cancer
-inactivation of tumor suppressor gene APC
-fairly rare autosomal dominant
◉ mutation found in breast cancer
Answer: mutations in BRCA1 and BRCA2
normally act as tumor suppressor genes, when mutation occurs,
inhibited tumor suppression results
autosomal dominant with 60-85% penetrance
◉ HNPCC mutation
Answer: -colorectal cancer
-4 mismatch repair genes (MSH2, MLH1, MSH6, PMS2)
-autosomal dominant
,◉ mutation found in hereditary hemochromatosis
Answer: high absorption of iron from intestinal mucosa
P Cys282Tyr
P His63Asp
-autosomal recessive
◉ Mutation found in Alzheimer's disease
Answer: studies show significance in APOE4, APP, PSEN1, PSEN2
◉ Mutation found in PKU (phenylketonuria)
Answer: tested for in newborns
autosomal recessive disorder caused by mutations in PAH gene
◉ Genetics of sickle cell disease
Answer: autosomal recessive
result of mutated hemoglobin molecule
result of point mutation
thymine in place of adenine in 6th codon of beta-chain gene on
chromosome 11
◉ calculate penetrance
,Answer: [(number of individuals with clinical features)/(number of
individuals with disease causing mutation)] x 100
◉ anticipation
Answer: the tendency in certain genetic disorders for individuals in
successive generations to present at an earlier age and/or with more
severe manifestations
◉ Cansanguinity
Answer: genetic relatedness between individuals descended from at
least one common ancestor
◉ genotype
Answer: An organism's genetic makeup
◉ phenotype
Answer: physical characteristics or expression of a gene; the clinical
presentation of an individual with a particular genotype
◉ epigenetics
Answer: the study of influences on gene expression that occur
without a DNA change
the study of biological mechanisms that will switch the genes on and
off
, ◉ what differentiates benign tumors from malignant tumors
Answer: -grow slowly
-have well-defined capsule
-are not invasive
-are well differentiated; look like the tissue from which they arose
-have a low miotic index; dividing cells are rare
-do not metastasize
◉ What differentiates malignant tumors from benign tumors
Answer: -grow rapidly
-are not encapsulated
-invade local structures and tissues
-are poorly differentiated; may not be able to determine tissue of
origin
-high miotic index; many dividing cells
-can spread distantly, often through blood vessels and lymphnodes
◉ What differentiates tumors of epithelial origin from those of
mesenchymal origin
Answer: -carcinoma in situ
