Choose the best answer.
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1 | | Most human traits are influenced by both genetic and environmental factors. |
| | A) | True |
| | B) | False |
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2 | | Which of these factors does not provide evidence that the disorder may have a genetic cause? |
| | A) | An increased frequency of the disorder in genetic relatives of an affected individual than in the general population. |
| | B) | A higher concordance in identical twins than in fraternal twins. |
| | C) | Individuals that live with an affected individual are more likely to also exhibit the disorder. |
| | D) | All of these indicate a genetic cause. |
| | E) | None of these indicate a genetic cause. |
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3 | | Which of these statements would indicate that the trait in question has a genetic component? |
| | A) | Several adopted individuals living in the same family all have exceptionally strong fingernails. |
| | B) | In the last two weeks, every child at your daughter's daycare has had a cold. |
| | C) | Your brother, two cousins, and a great uncle all have been diagnosed with Duchenne muscular dystrophy, a disorder that affects about 1/7000 individuals. |
| | D) | All of these indicate a genetic component. |
| | E) | None of these indicate a genetic component. |
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4 | | Identification of a genetic disorder in a model species allows analysis of that disorder that can then be applied to humans. |
| | A) | True |
| | B) | False |
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5 | | Alteration of gene sequences in individuals affected by genetic disease: |
| | A) | Demonstrates the importance of environmental factors affecting disease expression. |
| | B) | Can be demonstrated by gene cloning and DNA sequencing. |
| | C) | Are the first line of evidence pursued to determine if the disease is in fact genetic. |
| | D) | All of these. |
| | E) | None of these. |
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6 | | Which of these characteristics of Tay-Sachs indicates that it is likely to be genetic? |
| | A) | The frequency of the disorder is approximately 1/3,600 in the Ashenazi Jewish population, but much less common in other Caucasian populations. |
| | B) | The disorder leads to death at a very young age. |
| | C) | Tay-Sachs often appears in a pedigree with no known family history of the disorder. |
| | D) | All of these. |
| | E) | None of these. |
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7 | | Which of the following observations is most conclusive that Gaucher disease is inherited in an autosomal recessive pattern? (All these observations are of a single family, who all live together). |
| | A) | Brothers David and Joshua are both affected with Gaucher disease. |
| | B) | Mom has no family history of Gaucher disease. |
| | C) | Mom and Dad are both unaffected with Gaucher disease. |
| | D) | The boys experience different severities of the disease. |
| | E) | None of these indicate an autosomal recessive pattern. |
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8 | | Which of the following would be most likely to be inherited in an autosomal recessive pattern in humans? |
| | A) | A mutant gene has a new function that creates a phenotype. |
| | B) | A deletion on the X chromosome inactivates a gene. |
| | C) | A point mutation in a regulatory element reduces the level of gene expression of a gene on chromosome 12. |
| | D) | None of these. |
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9 | | Jeremy's grandfather, uncle, and sister all have been diagnosed with the same genetic disorder. The most likely pattern of inheritance for this disorder is: |
| | A) | Autosomal dominant, since it is present in all three generations. |
| | B) | Autosomal recessive, since Jeremy's parents are unaffected. |
| | C) | X-linked recessive, since it affects more males than females. |
| | D) | You cannot determine the pattern of inheritance from this information. |
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10 | | For most dominant genetic diseases, homozygous dominant individuals are more severely affected than those that are heterozygous. |
| | A) | True |
| | B) | False |
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11 | | Why are males more likely to exhibit an X linked recessive trait than females? |
| | A) | Most genes on the X chromosome are not shared with the Y. |
| | B) | Male sex hormones affect expression of genes from the X chromosome. |
| | C) | X linked traits tend to control male secondary sexual development. |
| | D) | All of these. |
| | E) | None of these. |
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12 | | A couple comes to your genetic counseling clinic concerned that they might have a second child affected with the same X-linked recessive disease displayed by their son. Neither of the parents displays the trait. What do you tell them? |
| | A) | They have a ¼ chance of having another affected chilD. Since it's a recessive trait, they must both be carriers. |
| | B) | They have a ¼ chance of having another affected child but only if the child is a boy. They could try to select "girl" sperm to avoid the disease. |
| | C) | They have a ½ chance of having another affected child, but only if the child is a girl. They could try to select "boy" sperm to avoid the disease. |
| | D) | They are not at risk of having another affected child. |
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13 | | Genetic heterogeneity could be described as: |
| | A) | A population in which there are several mutant alleles for a specific gene. |
| | B) | A situation where different alleles of a gene cause different severity of disease. |
| | C) | A situation where people with the same genotype might have different phenotypes. |
| | D) | A situation where people with the same phenotype have different genotypes. |
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14 | | You are certain to know someone who has undergone genetic testing. |
| | A) | True |
| | B) | False |
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15 | | Which of these could be considered a genetic test? |
| | A) | A midwife licks the newborn's forehead to see if it tastes salty. If it does, she suggests to the family that the child may have cystic fibrosis. |
| | B) | A man of Ashkenazi Jewish descent submits a tissue sample to determine if his level of protein produced by the gene affected in Gaucher disease is normal or reduced. |
| | C) | An African American woman submits a DNA sample to find out if she is a carrier for the allele that causes sickle cell anemia. |
| | D) | All of these. |
| | E) | None of these. |
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16 | | Prenatal genetic testing requires collection of fetal cells, usually by amniocentesis or chorionic villus sampling. |
| | A) | True |
| | B) | False |
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17 | | Which definition of cancer is the most accurate? |
| | A) | A group of diseases characterized by uncontrolled cell division. |
| | B) | A disorder in which cells produce a localized tumor. |
| | C) | A disorder in which tissues of the body are replaced by nonfunctional cells. |
| | D) | All of these. |
| | E) | None of these. |
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18 | | Genes which promote cancer are called: |
| | A) | Tumor suppressors. |
| | B) | Oncogenes. |
| | C) | Growth factors. |
| | D) | Malignancy enhancers. |
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19 | | The first oncogene to be identified: |
| | A) | Was c-src. |
| | B) | Causes sarcomas in chickens. |
| | C) | Is normally expressed at high levels in eukaryotic cells. |
| | D) | All of these. |
| | E) | None of these. |
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20 | | Rous sarcoma virus (RSV) causes cancer by integrating into genes that normally control cell division and eliminating their function. |
| | A) | True |
| | B) | False |
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21 | | When a cell is stimulated by a growth hormone: |
| | A) | The presence of the hormone directly activates gene expression. |
| | B) | A cascade of protein interactions leads to changes in gene expression. |
| | C) | Cell surface receptors are deactivated. |
| | D) | All of these. |
| | E) | None of these. |
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22 | | Activation of a cell signaling pathway in absence of a growth factor signal can lead to uncontrolled cell division. |
| | A) | True |
| | B) | False |
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23 | | Which of these would be likely to lead to oncogenesis? |
| | A) | Reduced levels of function of a repressor of cell division. |
| | B) | A mutation that causes the growth hormone receptor to be constitutively active. |
| | C) | A mutation that prevents activated Ras from being deactivated. |
| | D) | All of these. |
| | E) | None of these. |
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24 | | Genetic changes that can convert proto-oncogenes to oncogenes include all of the following EXCEPT: |
| | A) | Point mutations. |
| | B) | Increase in the copy number of the proto-oncogene. |
| | C) | A change in the relationship between a coding region and regulatory elements. |
| | D) | Deletion of the proto-oncogene. |
| | E) | All of these can convert proto-oncogenes to oncogenes. |
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25 | | The breakpoints in the bcr and abl genes that lead to translocation and creation of the Philadelphia chromosome demonstrate an unusually high level of chromosome breakage. |
| | A) | True |
| | B) | False |
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26 | | Which of these factors might influence the creation of translocations known to cause chronic myelogenous leukemia (the Philadelphia chromosome) and Burkitt's lymphoma? |
| | A) | The sites of translocation show a lower frequency of breakage than other chromosomal sites. |
| | B) | Sites on non-homologous chromosomes may have enough similarity of sequence to stimulate "semi-homologous" recombination. |
| | C) | Sister chromatid exchange can occur during mitosis. |
| | D) | All of these. |
| | E) | None of these. |
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27 | | The role of a tumor suppressor gene: |
| | A) | Is to encode a protein that stimulates cell division. |
| | B) | Is to prevent mistakes in DNA replication. |
| | C) | Is to allow cell division only under appropriate conditions. |
| | D) | All of these. |
| | E) | None of these. |
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28 | | Which of these are likely as a result of the two hit model? |
| | A) | Predisposition to cancer is inherited as a dominant trait. |
| | B) | Tumor formation is inherited as a dominant trait. |
| | C) | Individuals who have inherited a mutant copy of a tumor suppressor are more likely to develop tumors, but they usually occur at later ages of onset. |
| | D) | All of these. |
| | E) | None of these. |
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29 | | What is the normal interaction between the Rb protein and the E2F transcription factor? |
| | A) | Rb inhibits E2F activity, effectively preventing cell division. |
| | B) | Rb enhances E2F activity, effectively preventing cell division. |
| | C) | Rb inhibits E2F activity, increasing the rate of cell division. |
| | D) | Rb enhances E2F activity, increasing the rate of cell division. |
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30 | | p53 will stimulate a badly damaged cell to undergo apoptosis rather than proceeding through the cell cycle. |
| | A) | True |
| | B) | False |
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31 | | Which of the following is a common type of tumor suppressor genes? |
| | A) | Genes that increase the rate of the cell cycle or stimulate cell division. |
| | B) | Genes involved in performing DNA synthesis. |
| | C) | Genes involved in maintenance of cell cycle checkpoints. |
| | D) | All of these. |
| | E) | None of these. |
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32 | | The difference between benign tumors and malignant cancer is the type of mutation. |
| | A) | True |
| | B) | False |
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33 | | Why are cancer cells likely to accumulate mutations, including changes in chromosome number, over time? |
| | A) | They are less likely to attach chromosomes correctly to the mitotic spindle. |
| | B) | They are more likely to make mistakes in DNA synthesis. |
| | C) | They are allowed to divide despite potential errors in DNA synthesis or spindle assembly. |
| | D) | All of these. |
| | E) | None of these. |
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