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Pathophysiology Practice Test: Genes and Genetic Diseases
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Genes are the building blocks of heredity and are passed from parent to child. Genes contain DNA, which has instructions for making proteins. A genetic disorder, also called a genetic disease, occurs when a gene has a problem with its code, causing a health problem. These problems are called mutations or variations. Mutations can cause proteins to not work properly or to be missing entirely.  Genetic disorders can be caused by: Pathogenic mutations: These mutations cause disease. Mutations in a single gene Mutations in multiple genes Chromosomal abnormalities  Genetic disorders can... Show more
Pathophysiology Practice Test: Genes and Genetic Diseases
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25 Questions

1. A cell that does not contain a multiple of 23 chromosomes is called a _____ cell.
2. An aide asks the nurse why people who have neurofibromatosis will show varying degrees of the disease. Which genetic principle should the nurse explain to the aide?
3. A DNA strand has a region with the sequence ATCGGAT. Which of the following would be a complementary strand?
4. A child is diagnosed with cystic fibrosis. History reveals that the child’s parents are siblings. Cystic fibrosis was most likely the result of:
5. Cystic fibrosis is caused by what gene abnormality?
6. After a geneticist talks to a patient about being a chromosomal mosaic, the patient asks the nurse what that means. How should the nurse respond? You may _____ genetic disease(s).
7. A patient wants to know the risk factors for Down syndrome. What is the nurse’s best response?
8. The base components of DNA are:
9. A nurse is reviewing the pedigree chart. When checking for a proband, what is the nurse looking for?
10. What type of mutation does not change the amino acid sequence and thus has no observable consequence?
11. 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?
12. What is the most common cause of Down syndrome?
13. Which of the following mutations have the most significant effect on protein synthesis?
14. To express a polygenic trait:
15. A 12-year-old male is diagnosed with Klinefelter syndrome. His karyotype would reveal which of the following?
16. A 50-year-old male was recently diagnosed with Huntington disease. Transmission of this disease is associated with:
17. A biologist is explaining how RNA directs the synthesis of protein. Which process is the biologist describing?
18. A patient demonstrates severe mental retardation caused by a deletion of part of chromosome 5. What genetic disorder will the nurse see documented in the chart?
19. What is the result of homologous chromosomes failing to separate during meiosis?
20. Which of the following disorders is manifested primarily in males?
21. When the nurse is teaching the staff about X-linked recessive disorders, which information should the nurse include?
22. 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?
23. When discussing DNA replication, which enzyme is most important?
24. A nurse recalls the basic components of DNA are:
25. The regions of the heterogeneous nuclear RNA that must be spliced out to form functional RNA are called: