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Genetics & Genomics (GC 545) > Quiz Questions - Review Q1 > Flashcards

Quiz Questions - Review Q1 Flashcards

1
Q

Somatic cells are produced utilizing which of the following?

A

Mitosis

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2
Q

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

A

Aneuploidy

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3
Q

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

A
  • No physical or health problems
  • Increase risk for miscarriage
  • Increased risk for a child w/ disabilities
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4
Q

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

A

True

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5
Q

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

A

Crossing over

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6
Q

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

A

Light colored bands

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7
Q

What mechanism is used for cellular imprinting?

A

Methylation

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8
Q

What is the role of normal X-inactivation?

A

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

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9
Q

The function of __% of genes is known

A

50%

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10
Q

(True/False) Exons are removed during transcription?

A

False

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11
Q

What is the primary role of translation?

A

Protein synthesis

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12
Q

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

A

50%

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13
Q

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

A

Variable expression

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14
Q

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

A

Penetrance

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15
Q

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

A

No clinical symptoms of the condition

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16
Q

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

A

Environmental somatic mutations

17
Q

All genetic mutations result in a clinically identifiable condition

A

False

18
Q

Sickle cell anemia is an example of _____

A

DNA substitution

19
Q

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

A

Silent

20
Q

Genetic polymorphisms are very rare causes for human disease

A

False

21
Q

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

A

75%

22
Q

Consanguinity increases the risk for ___?

A

Autosomal recessive disorders

23
Q

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?

A

0%

24
Q

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

A

Haploinsufficiency mutation

25
Q

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

A

0%

26
Q

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

A

False

27
Q

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

A

Few genetic factors contribute to the condition

28
Q

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

A

Families with multiple members affected with the condition

29
Q

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

A

Early onset of a condition suggests a possible genetic predisposition

30
Q

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

A

People fear being judged or discriminated against based on the information

31
Q

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

A

They have common environmental exposures and lifestyle

32
Q

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

A

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

33
Q

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

A

Prenatal History

34
Q

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

A

Recurrent pregnancy loss

35
Q

What can be identified with a 3 generation family history?

A
  • Single gene disorder
  • Ethnic based genetic risk factors
  • Multifactorial disease genetic predispositions
36
Q

What is the best genetic screening tool available?

A

Family History

37
Q

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

A

Three

38
Q

What degree of relationship are grandparents to their grandchildren?

A

Second

39
Q

What is the value of knowing your family history?

A
  • 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

Genetics & Genomics (GC 545) (30 decks)

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