Maryville NURS 611 Patho Exam 1/ NUR 611
Exam 2 & Nurs 611 Final Exam/ 3 in 1
Combined/ Q&A.
What is a well-known example of aneuploidy? - Answer: trisomy 21 (down
syndrome)
What is trisomy 21 or down syndrome known for? - Answer: IQ between 25-70
low nasal bridge
protruding tongue
flat, low set ears
What is the definition of penetrance? - Answer: The percentage of individuals
with a specific genotype who also express the expected phenotype
Page 1 of 65
,What is Imcomplete Penetrance? - Answer: individuals who have a disease-
causing allele may not exhibit that expected phenotype at all, even though the
allele and the associated disease may be transmitted to the next generation
What is Huntington's disease and what are the main features? - Answer: 1-A well-
known autosomal dominant condition
2- progressive dementia and increasingly uncontrollable movements of the limbs
When does Huntington's disease appear? - Answer: not usually seen until 40 y/o
or later due to this, Huntington's disease
what is an example of a age-dependent penetrance? - Answer: Huntington
disease
What do most genetic diseases exhibit? - Answer: variable expressivity
What is the definition of Expressivity? - Answer: the extent of variation in the
phenotype associated with a particular genotype
If the expressivity of a disease is variable, how is penetrance affected? - Answer:
penetrance may be complete, but the severity of the disease can vary
What is a well-known example of variable expressivity in an autosomal dominant
disease? - Answer: Type 1 neurofibromatosis or Von Recklinghausen disease
Page 2 of 65
,How does the expression of Recklinghausen disease gene express itself? - Answer:
Can vary from a few harmless cafe-au-lait spots on the skin to malignant tumors,
scoliosis, seizures, gliomas, hypertension, learning disabilities, and neuromas
Cystic fibrosis is caused by what type of gene? - Answer: autosomal recessive
Who does cystic fibrosis affect most? - Answer: white children-most lethal
autosomal recessive disease
How does someone get cystic fibrosis? - Answer: the individual must be
homozygous for a recessive allele to express the disease (both parents have to
have the allele)
What happens if a person is a carrier for cystic fibrosis? - Answer: 1- usually the
carriers are phenotypically normal
2- most recessive alleles are maintained in normal carriers; they are able to
survive in the populations from one generation to the next
What form of gene accounts for approximately 5% of breast cancer? - Answer:
autosomal dominant form
Which genes are responsible for this form of breast cancer? - Answer: BRACA1
(chromosome 17) and BRACA2 (chromosome 13)
Page 3 of 65
, What is the chance of a lifetime risk of developing breast cancer for women who
inherit the BRACA1 or BRACA2 gene? - Answer: 50-80%
What is the risk of developing breast cancer if a woman has 1 affected 1st degree
relative? - Answer: double the risk
How common is a given disease in a population? - Answer: well-established
measures are used to answer this question
What is the definition of incidence rate? - Answer: number of new cases of a
disease reported during a specific period (typically 1 year) divided by the number
of individuals in the population
What is the definition of relative risk? - Answer: a common measure of the effect
of a specific risk factor
how is relative risk expressed? - Answer: a ratio of the incidence rate of the
disease among individuals exposed to a risk factor divided by the incidence of the
disease among individuals not exposed to a risk factor
Ex: the incidence of death from lung cancer was 1.66 (per 1000 person-years) in
heavy smokers (>25 cigs/day), but it was only 0.07 in the non smokers. The ratio of
these two incidence rates is 1.66/0.07, which yields a relative risk of 23.7 deaths.
Thus, the risk of dying from lung cancer is increased by 24-fold in heavy smokers
vs nonsmokers
Page 4 of 65
Exam 2 & Nurs 611 Final Exam/ 3 in 1
Combined/ Q&A.
What is a well-known example of aneuploidy? - Answer: trisomy 21 (down
syndrome)
What is trisomy 21 or down syndrome known for? - Answer: IQ between 25-70
low nasal bridge
protruding tongue
flat, low set ears
What is the definition of penetrance? - Answer: The percentage of individuals
with a specific genotype who also express the expected phenotype
Page 1 of 65
,What is Imcomplete Penetrance? - Answer: individuals who have a disease-
causing allele may not exhibit that expected phenotype at all, even though the
allele and the associated disease may be transmitted to the next generation
What is Huntington's disease and what are the main features? - Answer: 1-A well-
known autosomal dominant condition
2- progressive dementia and increasingly uncontrollable movements of the limbs
When does Huntington's disease appear? - Answer: not usually seen until 40 y/o
or later due to this, Huntington's disease
what is an example of a age-dependent penetrance? - Answer: Huntington
disease
What do most genetic diseases exhibit? - Answer: variable expressivity
What is the definition of Expressivity? - Answer: the extent of variation in the
phenotype associated with a particular genotype
If the expressivity of a disease is variable, how is penetrance affected? - Answer:
penetrance may be complete, but the severity of the disease can vary
What is a well-known example of variable expressivity in an autosomal dominant
disease? - Answer: Type 1 neurofibromatosis or Von Recklinghausen disease
Page 2 of 65
,How does the expression of Recklinghausen disease gene express itself? - Answer:
Can vary from a few harmless cafe-au-lait spots on the skin to malignant tumors,
scoliosis, seizures, gliomas, hypertension, learning disabilities, and neuromas
Cystic fibrosis is caused by what type of gene? - Answer: autosomal recessive
Who does cystic fibrosis affect most? - Answer: white children-most lethal
autosomal recessive disease
How does someone get cystic fibrosis? - Answer: the individual must be
homozygous for a recessive allele to express the disease (both parents have to
have the allele)
What happens if a person is a carrier for cystic fibrosis? - Answer: 1- usually the
carriers are phenotypically normal
2- most recessive alleles are maintained in normal carriers; they are able to
survive in the populations from one generation to the next
What form of gene accounts for approximately 5% of breast cancer? - Answer:
autosomal dominant form
Which genes are responsible for this form of breast cancer? - Answer: BRACA1
(chromosome 17) and BRACA2 (chromosome 13)
Page 3 of 65
, What is the chance of a lifetime risk of developing breast cancer for women who
inherit the BRACA1 or BRACA2 gene? - Answer: 50-80%
What is the risk of developing breast cancer if a woman has 1 affected 1st degree
relative? - Answer: double the risk
How common is a given disease in a population? - Answer: well-established
measures are used to answer this question
What is the definition of incidence rate? - Answer: number of new cases of a
disease reported during a specific period (typically 1 year) divided by the number
of individuals in the population
What is the definition of relative risk? - Answer: a common measure of the effect
of a specific risk factor
how is relative risk expressed? - Answer: a ratio of the incidence rate of the
disease among individuals exposed to a risk factor divided by the incidence of the
disease among individuals not exposed to a risk factor
Ex: the incidence of death from lung cancer was 1.66 (per 1000 person-years) in
heavy smokers (>25 cigs/day), but it was only 0.07 in the non smokers. The ratio of
these two incidence rates is 1.66/0.07, which yields a relative risk of 23.7 deaths.
Thus, the risk of dying from lung cancer is increased by 24-fold in heavy smokers
vs nonsmokers
Page 4 of 65
