Genetics Flashcards
Which disease does not have monogenic inheritance?
a. Migraines
b. Alzheimer’s disease
c. Parkinson’s disease
d. ALS
e. multiple sclerosis
e. multiple sclerosis
Presymptomatic testing for Huntington’s disease:
a. A multi-stage genetic testing process involving a clinical psychologist
a. A multi-stage genetic testing process involving a clinical psychologist
Why can genetic testing results be inaccurate?
a. Due to various mutations.
a. Due to various mutations.
What is the first test for suspected Duchenne muscular dystrophy in a 3-year-old?
a. Genetic testing.
a. Genetic testing.
We have a pregnant woman who is about to give birth to a baby boy. Her brother
has Duchenne muscular dystrophy. Genetic analysis has shown no deletion. What
do we say to the pregnant woman?
a. Duchenne muscular dystrophy is inherited differently and the son is not at risk.
b. A boy is more likely to have Duchenne muscular dystrophy, but we don’t
know the genetic test.
c. The boy is more likely to have Duchenne muscular dystrophy and
the mother can be offered indirect genetic testing.
c. The boy is more likely to have Duchenne muscular dystrophy and
the mother can be offered indirect genetic testing.
How is Duchenne MD inherited?
a. X-linked recessive
a. X-linked recessive
Inheritance of Huntington’s disease - father had the disease, son also genetically
proven. What do you tell him about the children?
a. half of a woman’s offspring will have the disease
b. half of male offspring will have the disease
c. half your offspring will have the disease
d. one quarter of offspring will have the disease
c. half your offspring will have the disease
What are monogenic diseases?
a. Parkinson’s disease
b. multiple sclerosis
c. Alzheimer’s disease
d. a+b
e. a+c
e. a+c
Which test has improved the sensitivity of genetic tests?
a. PCR
b. FISH
a. PCR
Which approach can often identify the genetic aetiology of neurological diseases in
clinical practice?
a. with a good family history and pedigree construction (3
generations).
b. neurophysiological tests (EMG, EEG, evoked potentials)
c. with imaging tests (CT/MRI)
d. by biochemical tests
e. by biopsy of muscle or other tissues
a. with a good family history and pedigree construction (3
generations).
Which disease does not have triplet relapses:
a. Friedreich’s ataxia (GAA)
b. spinobulbar muscular atrophy (CAG)
c. neurofibromatosis 1
d. Huntington’s disease (CAG)
e. Myotonic dystrophy (CTG)
c. neurofibromatosis 1
Why genetic tests have lower specificity in hereditary sensory and motor
polyneuropathy:
a. lower penetration
b. sequencing errors
c. genetic heterogeneity
d. somatic mosaicism
c. genetic heterogeneity
How to suspect that a disease is inherited in the family:
a. early appearance
b. fast progression
c. non-response to treatment
a. early appearance
Websites offering genetic tests:
a. have no value
b. are good for pre-symptomatic testing
c. are important for treatment
a. have no value
Inheriting Wilson’s disease:
a. autosomal dominant
b. autosomal recessive
c. X-linked
d. Y-vezano
b. autosomal recessive
Why does genetic treatment (diagnosis) of genetically determined
neurological diseases make sense?
a. because it has a place in diagnosis, prognosis assessment and
primary prevention.
b. because we can learn a lot about the pathogenesis of disease in the clinic
c. because it allows the generalisation of genetic tests and access to
testing for anyone who wants it
d. genetic treatment significantly improves the treatment of neurological
diseases in most cases
e. genetic treatment for neurological diseases is not reasonable
a. because it has a place in diagnosis, prognosis assessment and
primary prevention.
What does genetic heterogeneity of disease mean?
a. the disease can have a variety of causes, both genetic and non-genetic
b. the disease can be caused by mutations in the same gene
c. the disease can be caused by mutations in different genes
d. the disease may present with a variety of signs and symptoms
e. none of the above
c. the disease can be caused by mutations in different genes
Where do we ignore monogenic genetics?
a. Alzheimer’s disease
b. Parkinson’s disease
c. neurofibromatosis
d. tension headache
d. tension headache
A pregnant woman in her 9th week comes to see her family doctor. She is scared
because her brother has Duchenne MD and her uncle died because of it. Her
brother’s genetic test for a deletion on dystrophin was negative. What do we say to
her?
a. her child cannot be at risk, depending on the type of inheritance
b. is at risk and is offered appropriate genetic testing
c. because she shows no signs, the child can’t be either
d. because the brother’s test is negative, the child is not at risk
e. child is at risk, but in the sense that we can’t do anything
b. is at risk and is offered appropriate genetic testing
The patient takes an online genetic test and is told that they have a higher risk of
Alzheimer’s disease. What will you do as a GP?
a. you tell him that the test has no clinical value
b. you tell him that although he has no clinical value, you do a basic
neurological examination, check his memory functions
c. you send him to a neurologist
a. you tell him that the test has no clinical value
Why we need to know if the disease is genetic (circle incorrect):
a. treatment
b. Forecast
c. Prevention
d. rehabilitation
d. rehabilitation
A warning condition that does not predict a possible genetic defect:
a. some information about relatives and early disability
b. jaundice in an infant
b. jaundice in an infant
17-year-old boy with ataxia, cardiomyopathy, areflexia. Which statement is true?
a. the disease is not genetic
b. the disease is genetic due to the typical acute onset of symptoms
c. ataxia and areflexia are genetically determined; cardiomyopathy is
due to chance
d. ataxia and areflexia are genetic; cardiomyopathy occurs in the context of
another genetic disease
e. none of the above
Which test would you do on him?
f. DNA testing for evidence of FRDA gene mutation on chromosome 9
e. none of the above
f. DNA testing for evidence of FRDA gene mutation on chromosome 9
Which is the most obvious genetic defect?
a. 17-year-old boy with proximal weakness
b. 10-year-old boy who has been in a wheelchair since the age of 4 because
he could no longer walk
c. some older, non-possible stroke descriptions
b. 10-year-old boy who has been in a wheelchair since the age of 4 because
he could no longer walk
