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Genes and Genetic Diseases

Quiz yourself by thinking what should be in each of the black spaces below before clicking on it to display the answer.
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Question
Answer
A nurse recalls the basic components of DNA are   a phosphate molecule, deoxyribose, and four nitrogenous bases.  
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Which of the following mutations have the most significant effect on protein synthesis?   Frameshift mutations  
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The base components of DNA are:   A, G, C, and T.  
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A DNA strand has a region with the sequence ATCGGAT. Which of the following would be a complementary strand?   TAGCCTAG  
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A biologist is explaining how RNA directs the synthesis of protein. Which process is the biologist describing?   Translation  
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What is the result of homologous chromosomes failing to separate during meiosis?   Nondisjunction  
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A cell that does not contain a multiple of 23 chromosomes is called a _____ cell.   polyploid  
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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  
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The condition in which an extra portion of a chromosome is present in each cell is called:   partial trisomy.  
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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  
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What is the most common cause of Down syndrome?   Maternal nondisjunction  
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A patient wants to know the risk factors for Down syndrome. What is the nurse’s best response?   Pregnancy in women over age 35.  
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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  
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What genetic disorder is the result if an individual possesses an XXY chromosome configuration?   Klinefelter  
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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  
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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  
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Cystic fibrosis is caused by what gene abnormality?   Autosomal recessive  
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A 15-year-old female is diagnosed with Prader-Willi syndrome. This condition is an example of:   genomic imprinting.  
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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.  
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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  
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To express a polygenic trait:   several genes must act together.  
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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  
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The gradual increase in height among the human population over the past 100 years is an example of:   a multifactorial trait.  
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When discussing DNA replication, which enzyme is most important?   DNA polymerase  
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The regions of the heterogeneous nuclear RNA that must be spliced out to form functional RNA are called:   introns  
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A 50-year-old male was recently diagnosed with Huntington disease. Transmission of this disease is associated with:   delayed age of onset.  
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What type of mutation does not change the amino acid sequence and thus has no observable consequence?   Silent  
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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.  
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Which of the following disorders is manifested primarily in males?   Muscular dystrophy  
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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.  
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Created by: NightinGeel