Quiz Questions - Review Q1

Question 1

Somatic cells are produced utilizing which of the following?

Answer 1

Mitosis

Question 2

Trisomy 21 (Down Syndrome) is an example of ____.

Answer 2

Aneuploidy

Question 3

What are the possible findings for someone with a balanced reciprocal translocation?

Answer 3

• No physical or health problems
• Increase risk for miscarriage
• Increased risk for a child w/ disabilities

Question 4

(True/False) An individual with CML most likely has normal blood chromosome studies

Answer 4

True

Question 5

What is required for the gain or loss of genes in the gametes of an individual that carriers a balanced inversion?

Answer 5

Crossing over

Question 6

What are genes that are transcribed most likely to be located on a chromosome?

Answer 6

Light colored bands

Question 7

What mechanism is used for cellular imprinting?

Answer 7

Methylation

Question 8

What is the role of normal X-inactivation?

Answer 8

To insure the same amount of active genetic information from the X chromosome in males and females

Question 9

The function of __% of genes is known

Answer 9

50%

Question 10

(True/False) Exons are removed during transcription?

Answer 10

False

Question 11

What is the primary role of translation?

Answer 11

Protein synthesis

Question 12

Sam has Marfan syndrome (AD) and both his parents are normal. What is the chance Sam’s child will have Marfan syndrome?

Answer 12

50%

Question 13

What term describes when a condition can range from mild to severe in the same family?

Answer 13

Variable expression

Question 14

What term describes why 80% of individuals with a mutation in gene X will have symptoms and 20% will be asymptomatic?

Answer 14

Penetrance

Question 15

What phenotype would you expect in an individual with gonadal mosaicism for the neurofibromatosis (MF) gene?

Answer 15

No clinical symptoms of the condition

Question 16

A skin cancer caused by sun exposure is an example of ___

Answer 16

Environmental somatic mutations

Question 17

All genetic mutations result in a clinically identifiable condition

Answer 17

False

Question 18

Sickle cell anemia is an example of _____

Answer 18

DNA substitution

Question 19

Which of the following point mutations is least likely to cause a change in protein structure?

Answer 19

Silent

Question 20

Genetic polymorphisms are very rare causes for human disease

Answer 20

False

Question 21

What is the chance for a couple to have an UNAFFECTED child if both parents are AR carriers of the same condition?

Answer 21

75%

Question 22

Consanguinity increases the risk for ___?

Answer 22

Autosomal recessive disorders

Question 23

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?

Answer 23

0%

Question 24

What type of mutation causes a reduction in the amount of normal protein production?

Answer 24

Haploinsufficiency mutation

Question 25

Mr. Jones has X-linked hemophilia, what is the chance for him to have an affected son?

Answer 25

0%

Question 26

Genetic testing for “the” eye color gene can reliably determine eye color

Answer 26

False

Question 27

What would you infer from a twin study that revealed a trait had a low concordance in both MZ & DZ twins?

Answer 27

Few genetic factors contribute to the condition

Question 28

What do family studies rely on to determine if a multifactorial condition has a large genetic component?

Answer 28

Families with multiple members affected with the condition

Question 29

Why is the age of diagnosis important information to collect as part of a family history?

Answer 29

Early onset of a condition suggests a possible genetic predisposition

Question 30

What is a common reason people withhold medical information as discussed in class?

Answer 30

People fear being judged or discriminated against based on the information

Question 31

What is one non-genetic reason for a family to have multiple members with the same health condition?

Answer 31

They have common environmental exposures and lifestyle

Question 32

Why is the presentation of a common disease in the less-often-affected gender a genetic red flag?

Answer 32

These conditions (ex: breast cancer in men) are difficult to express with environmental exposures alone

Question 33

What information below is most helpful in determining environmental risk factors for a child with a major birth defect?

Answer 33

Prenatal History

Question 34

What is the most common red flag for a balanced chromosome translocation?

Answer 34

Recurrent pregnancy loss

Question 35

What can be identified with a 3 generation family history?

Answer 35

- Single gene disorder - Ethnic based genetic risk factors - Multifactorial disease genetic predispositions

Question 36

What is the best genetic screening tool available?

Answer 36

Family History

Question 37

What is the minimum number of generations required to have a “complete” family history?

Answer 37

Three

Question 38

What degree of relationship are grandparents to their grandchildren?

Answer 38

Second

Question 39

What is the value of knowing your family history?

Answer 39

- 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