Deck 2: Genes and Genetic Diseases

Question 1

What is the result of homologous chromosomes failing to separate during meiosis?

A) Neurofibromatosis
B) Aneuploidy
C) Polyploidy
D) Conjoined twins

Answer 1

Aneuploidy

Question 2

A nurse recalls that the basic components of DNA are:

A) pentose sugars and four phosphate bases.
B) a phosphate molecule, deoxyribose, and four nitrogenous bases.
C) adenine, guanine, and purine.
D) codons, oxygen, and cytosine.

Answer 2

a phosphate molecule, deoxyribose, and four nitrogenous bases.

Question 3

An aide asks the nurse why people who have neurofibromatosis show varying degrees of the disease. Which genetic principle should the nurse explain to the aide?

A) Penetrance
B) Expressivity
C) Dominance
D) Recessiveness

Answer 3

Expressivity

Question 4

A 13-year-old girl has a karyotype that reveals an absent homologous X chromosome with only a single X chromosome present. What medical diagnosis will the nurse observe on the chart?

A) Down syndrome
B) cri du chat syndrome
C) Turner's syndrome
D) Fragile X syndrome

Question 5

A child is diagnosed with cystic fibrosis. History reveals that the child's parents are siblings. Cystic fibrosis was most likely the result of:

A) X-inactivation.
B) genomic imprinting.
C) consanguinity.
D) obligate carriers.

Question 6

A cell that does not contain a multiple of 23 chromosomes is called a _____ cell.

A) diploid
B) euploid
C) polyploid
D) haploid

Question 7

What genetic disorder is the result if an individual possesses an XXY chromosome configuration?

A) Turner's syndrome
B) Klinefelter's syndrome
C) Down syndrome
D) Fragile X syndrome

Question 8

After a geneticist talks to a patient about being a chromosomal mosaic, the patient asks the nurse what that means. What should the nurse say?

A) "You are only be a carrier of the genetic disease."
B) "You have a mild form of the genetic disease."
C) "You have two genetic diseases."
D) "The expression of your DNA has been altered, causing a genetic disease."

Question 9

What is the most common cause of Down syndrome?

A) Paternal nondisjunction
B) Maternal translocations
C) Maternal nondisjunction
D) Paternal translocations

Question 10

The base components of DNA are:

A) A, G, C, and U.
B) P, G, C, and T.
C) A, G, C, and T.
D) X, XX, XY, and YY.

Question 11

Which of the following mutations have the most significant effect on protein synthesis?

A) Base pair substitutions
B) Silent mutations
C) Intron mutations
D) Frameshift mutations

Question 12

A biologist is explaining how RNA directs the synthesis of protein. Which process is the biologist describing?

A) Termination
B) Transcription
C) Translocation
D) Translation

Question 13

A DNA strand has a region with the sequence ATCGGAT. Which of the following would be a complementary strand?

A) CGATACGT
B) TAGCCTAG
C) TUGCCTUG
D) UAGCCUAG

Question 14

A 15-year-old female is diagnosed with Prader-Willi syndrome. What is this condition an example of?

A) Genomic imprinting
B) An autosomal recessive trait
C) An autosomal dominant trait
D) A sex-linked trait

Question 15

A patient demonstrates severe intellectual disability caused by a deletion of part of chromosome 5. What genetic disorder will the nurse see documented in the chart?

A) Prader-Willi syndrome
B) Down syndrome
C) cri du chat syndrome
D) Trisomy X

Question 16

A patient, age 9, is admitted to a pediatric unit with Duchenne muscular dystrophy. When planning care, the nurse recalls that the patient inherited this condition through a trait that is:

A) X-linked dominant.
B) X-influenced.
C) X-limited.
D) X-linked recessive.

Question 17

A 20-year-old pregnant female gives birth to a stillborn child. Autopsy reveals that the fetus has 92 chromosomes. What term may be on the autopsy report to describe this condition?

A) Biploidy
B) Triploidy
C) Tetraploidy
D) Aneuploidy

Question 18

The condition in which an extra portion of a chromosome is present in each cell is called:

A) reciprocal translocation.
B) partial trisomy.
C) inversion.
D) Down syndrome.

Question 19

What gene abnormality causes cystic fibrosis?

A) X-linked dominant
B) X-linked recessive
C) Autosomal dominant
D) Autosomal recessive

Question 20

What is a risk factor for Down syndrome?

A) Fetal exposure to mutagens in the uterus
B) Increased paternal age
C) Family history of Down syndrome
D) Pregnancy in women over age 35

Question 21

The gradual increase in height among the human population over the past 100 years is an example of:

A) a polygenic trait.
B) a multifactorial trait.
C) crossing over.
D) recombination.

Question 22

When discussing DNA replication, which enzyme is most important?

A) RNA polymerase
B) Transfer RNA
C) Messenger RNA
D) DNA polymerase

Question 23

When the nurse is teaching the staff about X-linked recessive disorders, which information should the nurse include? (Select all that apply.)

A) The trait is seen much more often in females than in males.
B) The trait is never transmitted from father to son.
C) The gene can be transmitted through a series of carrier females.
D) The gene is passed from an affected father to all his daughters.
E) The trait never skips generations.

Question 24

What type of mutation does not change the amino acid sequence and thus has no observable consequence?

A) Frameshift
B) Spontaneous
C) Silent
D) Missense

Question 25

What is needed for a polygenic trait to be expressed?

A) Genes must interact with the environment.
B) Several genes must act together.
C) Multiple mutations must occur in the same family.
D) Penetrance must occur.

Question 26

A 50-year-old male was recently diagnosed with Huntington's disease. What is a key feature of this condition?

A) Penetrance of a trait
B) Recurrence risk
C) Expressivity
D) Delayed age of onset

Question 27

What regions of RNA must be spliced out for functional mRNA to be formed?

A) Promoter sites
B) Introns
C) Exons
D) Anticodons

Question 28

Which one of the following disorders is manifested primarily in males?

A) Cystic fibrosis
B) Neurofibromatosis
C) Muscular dystrophy
D) Down syndrome

Question 29

A 12-year-old male is diagnosed with Klinefelter's syndrome. His karyotype would reveal which of the following?

A) XY
B) XX
C) XYY
D) XXY

Question 30

A nurse is reviewing the pedigree chart. When checking for a proband, what is the nurse looking for?

A) The person who is first diagnosed with a genetic disease
B) The individual who has a disease gene but is phenotypically normal
C) The phenotype of genetic material
D) The codominance

Question 31

A 13-year-old female has a karyotype that reveals an absent homologous X chromosome with only a single X chromosome present. Her features include a short stature, widely spaced nipples, and a reduced carrying angle at the elbow. What is her diagnosis?

A) Down syndrome
B) cri du chat syndrome
C) Turner's syndrome
D) Klinefelter's syndrome