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Patho Ch 2
Genes and Genetic Diseases
| Question | Answer |
|---|---|
| A nurse recalls the basic components of DNA are | a phosphate molecule, deoxyribose, and four nitrogenous bases. |
| Which of the following mutations have the most significant effect on protein synthesis? | Frameshift mutations |
| The base components of DNA are: | A, G, C, and T. |
| A DNA strand has a region with the sequence ATCGGAT. Which of the following would be a complementary strand? | TAGCCTAG |
| A biologist is explaining how RNA directs the synthesis of protein. Which process is the biologist describing? | Translation |
| What is the result of homologous chromosomes failing to separate during meiosis? | Nondisjunction |
| A cell that does not contain a multiple of 23 chromosomes is called a _____ cell. | polyploid |
| 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? | Tetraploidy |
| The condition in which an extra portion of a chromosome is present in each cell is called: | partial trisomy. |
| 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). | have a mild form of the |
| What is the most common cause of Down syndrome? | Maternal nondisjunction |
| A patient wants to know the risk factors for Down syndrome. What is the nurse’s best response? | Pregnancy in women over age 35. |
| 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? | Turner syndrome |
| What genetic disorder is the result if an individual possesses an XXY chromosome configuration? | Klinefelter |
| 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? | Cri du chat syndrome |
| 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? | Expressivity |
| Cystic fibrosis is caused by what gene abnormality? | Autosomal recessive |
| A 15-year-old female is diagnosed with Prader-Willi syndrome. This condition is an example of: | genomic imprinting. |
| A patient, age 9, is admitted to a pediatric unit with Duchenne muscular dystrophy. When planning care the nurse recalls the patient inherited this condition through a trait that is: | X-linked recessive. |
| A child is diagnosed with cystic fibrosis. History reveals that the child’s parents are siblings. Cystic fibrosis was most likely the result of: | consanguinity |
| To express a polygenic trait: | several genes must act together. |
| What is the diagnosis of a 13-year-old female who has a karyotype that reveals an absent homologous X chromosome with only a single X chromosome present? short stature, widely spaced nipples, and a reduced carrying angle at the elbow. | Turner syndrome |
| The gradual increase in height among the human population over the past 100 years is an example of: | a multifactorial trait. |
| When discussing DNA replication, which enzyme is most important? | DNA polymerase |
| The regions of the heterogeneous nuclear RNA that must be spliced out to form functional RNA are called: | introns |
| A 50-year-old male was recently diagnosed with Huntington disease. Transmission of this disease is associated with: | delayed age of onset. |
| What type of mutation does not change the amino acid sequence and thus has no observable consequence? | Silent |
| A nurse is reviewing the pedigree chart. When checking for a proband, what is the nurse looking for? | The person who is first diagnosed with a genetic disease. |
| Which of the following disorders is manifested primarily in males? | Muscular dystrophy |
| When the nurse is teaching the staff about X-linked recessive disorders, which information should the nurse include? ( | 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. |
Created by:
NightinGeel