Quiz Questions - Review Q1 Flashcards
Somatic cells are produced utilizing which of the following?
Mitosis
Trisomy 21 (Down Syndrome) is an example of ____.
Aneuploidy
What are the possible findings for someone with a balanced reciprocal translocation?
- No physical or health problems
- Increase risk for miscarriage
- Increased risk for a child w/ disabilities
(True/False) An individual with CML most likely has normal blood chromosome studies
True
What is required for the gain or loss of genes in the gametes of an individual that carriers a balanced inversion?
Crossing over
What are genes that are transcribed most likely to be located on a chromosome?
Light colored bands
What mechanism is used for cellular imprinting?
Methylation
What is the role of normal X-inactivation?
To insure the same amount of active genetic information from the X chromosome in males and females
The function of __% of genes is known
50%
(True/False) Exons are removed during transcription?
False
What is the primary role of translation?
Protein synthesis
Sam has Marfan syndrome (AD) and both his parents are normal. What is the chance Sam’s child will have Marfan syndrome?
50%
What term describes when a condition can range from mild to severe in the same family?
Variable expression
What term describes why 80% of individuals with a mutation in gene X will have symptoms and 20% will be asymptomatic?
Penetrance
What phenotype would you expect in an individual with gonadal mosaicism for the neurofibromatosis (MF) gene?
No clinical symptoms of the condition
A skin cancer caused by sun exposure is an example of ___
Environmental somatic mutations
All genetic mutations result in a clinically identifiable condition
False
Sickle cell anemia is an example of _____
DNA substitution
Which of the following point mutations is least likely to cause a change in protein structure?
Silent
Genetic polymorphisms are very rare causes for human disease
False
What is the chance for a couple to have an UNAFFECTED child if both parents are AR carriers of the same condition?
75%
Consanguinity increases the risk for ___?
Autosomal recessive disorders
What is the risk for an unaffected person with a family history of AD disease to have a child with the AD in the family?
0%
What type of mutation causes a reduction in the amount of normal protein production?
Haploinsufficiency mutation
Mr. Jones has X-linked hemophilia, what is the chance for him to have an affected son?
0%
Genetic testing for “the” eye color gene can reliably determine eye color
False
What would you infer from a twin study that revealed a trait had a low concordance in both MZ & DZ twins?
Few genetic factors contribute to the condition
What do family studies rely on to determine if a multifactorial condition has a large genetic component?
Families with multiple members affected with the condition
Why is the age of diagnosis important information to collect as part of a family history?
Early onset of a condition suggests a possible genetic predisposition
What is a common reason people withhold medical information as discussed in class?
People fear being judged or discriminated against based on the information
What is one non-genetic reason for a family to have multiple members with the same health condition?
They have common environmental exposures and lifestyle
Why is the presentation of a common disease in the less-often-affected gender a genetic red flag?
These conditions (ex: breast cancer in men) are difficult to express with environmental exposures alone
What information below is most helpful in determining environmental risk factors for a child with a major birth defect?
Prenatal History
What is the most common red flag for a balanced chromosome translocation?
Recurrent pregnancy loss
What can be identified with a 3 generation family history?
- Single gene disorder
- Ethnic based genetic risk factors
- Multifactorial disease genetic predispositions
What is the best genetic screening tool available?
Family History
What is the minimum number of generations required to have a “complete” family history?
Three
What degree of relationship are grandparents to their grandchildren?
Second
What is the value of knowing your family history?
- Increased awareness of disease in your family
- Increased medical surveillance for diseases in your family
- Make lifestyle choices to decrease the risk of disease in your family
