Genomics Questions with Certified Solutions
A nurse educator explains genetic mutations to a group of nursing students. While explaining germline
mutation, which statement given by the nurse is most appropriate?
1. It is passed from parents to their children.
2. It is caused by exposure to toxins.
3. It results in the mutation of two gene pairs in a single chromosome.
4. It is not inherited but is developed by a person during his lifetime. - Answer 1. It is passed from
parents to their children.
Germline mutations are passed from parents to children. Germline mutations are inherited and are not
caused by exposure to toxins. Autosomal recessive disorders are caused by mutations occurring in two
gene pairs on a chromosome. Acquired mutation can develop in a person and can occur anytime during
his lifetime; it cannot be passed from one generation to the next.
A patient with hemophilia presents to the health care facility for preconception counseling. He
expresses concern about having a child with the same disease. His wife is healthy and not a carrier of
hemophilia. What is true regarding this patient's offspring?
1. His son would be healthy.
2. His son would have the disease.
3. His daughter would be a carrier.
4. His daughter would have the disease. - Answer 3. His daughter would be a carrier
The daughter would be a carrier of hemophilia. Hemophilia is an X-linked recessive disorder; therefore,
affected individuals are usually males, given the fact that they have only one X chromosome. The
daughters of an affected male and healthy female are carriers, because they have two X chromosomes--
one from the mother, another from the father. The son of an affected male and a healthy female would
be a carrier, because he inherits the healthy Y chromosome from the father and the healthy X
chromosome from the mother. The son of the affected male would have the disease only if the mother
is also a carrier.
, A couple is adopting a baby girl. What health information related to the baby's biologic parents will be
most useful to the parents and the baby as she grows up?
1. The grandmother had breast cancer.
2. The family has a history of Alzheimer's disease.
3. The family has an individual with Down syndrome.
4. The family has familial adenomatous polyposis (FAP). - Answer 4. The family has familial adenomatous
polyposis (FAP).
Because familial adenomatous polyposis occurs in those with the gene, being able to screen, monitor,
and treat this baby will save her life in the long run. Breast cancer may or may not occur if the BRCA 1 or
2 are mutated. Many people who are positive for Apo E-4 do not develop Alzheimer's disease. Down
syndrome results from a chromosomal alteration and not a mutated gene.
A patient with hemophilia comes to the clinic for his general health check-up. He tells the nurse that he
is planning to start a family. The patient asks, "Do I need to take any precautions to prevent my child
from acquiring this disease?" Which is the most appropriate nursing response?
1. "No specific precautions need to be taken; your child will not get this disease from you."
2. "Hemophilia is not a genetic disorder; it cannot be passed on from one generation to another."
3. "Your female partner should be checked to see if she is a carrier of the same disorder."
4. "You should take specific medications to prevent your child from being affected by this disorder." -
Answer 3. "Your female partner should be checked to see if she is a carrier of the same disorder."
Hemophilia is an X-linked recessive disorder. If the male has this condition and the female partner is a
carrier of the genetic mutation causing hemophilia, the child will have hemophilia, too. Therefore, it is
extremely important to check whether the female partner is a carrier. Hemophilia is a genetic disease
and can pass from one generation to another. Taking specific medications will not reduce the chances of
the child inheriting hemophilia.
A nurse is working in a forensic laboratory and assisting a research professional with DNA fingerprinting.
The nurse will find chromosomes in which part of the cell?