Question 1

What is the difference between genetic testing and genetic screening?&#10;A) Genetic testing is concerned more with individuals and genetic screening is concerned with populations.&#10;B) Genetic screening is concerned more with individuals and genetic testing is concerned with populations.&#10;C) They use different tests and techniques to detect genetic mutations.&#10;D) Genetic testing is concerned more with nonlethal syndromes and diseases, and genetic screening is concerned with lethal diseases and syndromes.

Accepted Answer

Genetic testing is usually performed on an individual to determine if they have a specific genetic mutation or disorder. Genetic screening, on the other hand, is done on a population to identify individuals who may be at risk for a particular genetic condition.

Question 2

Haplotypes can be useful in the identification of disease genes since&#10;A) the least concordant marker(s) is typically the one that is closest to the disease gene.&#10;B) the most concordant marker(s) is typically the one that is closest to the disease gene.&#10;C) the most concordant marker(s) is the disease gene.&#10;D) no pedigree information needs to be known.

Accepted Answer

Haplotypes can be helpful in identifying disease genes by analyzing the linkage disequilibrium between the disease gene and nearby markers. The marker(s) that are most concordant with the disease gene are typically located closer to it, and thus can be used to narrow down the search for the gene. Therefore, choice B is the best option.

Question 3

You are analyzing a human pedigree for a new disease and discover that the disease occurs with the same frequency in both sexes and that 25% of the children from two unaffected heterozygous parents have the disease.This disease is displaying ________ inheritance.

A) autosomal recessive
B) autosomal dominant
C) sex-linked recessive
D) sex-linked dominant

A

Accepted Answer

The fact that the disease occurs with the same frequency in both sexes suggests that it is not sex-linked. Additionally, the 25% of children from two unaffected heterozygous parents having the disease is indicative of autosomal recessive inheritance.

Question 4

The term that indicates that cancer has begun to migrate to other parts of the body is ________.&#10;A) malignant&#10;B) benign&#10;C) metastatic&#10;D) invasive&#10;E) clonal

Accepted Answer

Metastasis is the term used to describe the spread of cancer cells from the original tumor to other parts of the body. A malignant tumor is cancerous, while a benign tumor is non-cancerous. Invasive refers to the ability of cancer cells to infiltrate surrounding tissues, but it does not necessarily indicate metastasis. Clonal refers to a group of cells that are genetically identical and derived from a single cell. While clonal expansion is a hallmark of cancer, it does not necessarily indicate metastasis.

Question 5

A gene that promotes the development of cancer when it sustains a gain-of-function mutation is called a&#10;A) housekeeping gene.&#10;B) tumor suppressor gene.&#10;C) proto-oncogene.&#10;D) caretaker gene.

Accepted Answer

A gene that promotes the development of cancer when it sustains a gain-of-function mutation is called a proto-oncogene. Proto-oncogenes are normal cellular genes that can become oncogenes when they are mutated or overexpressed, leading to uncontrolled cell growth and division. Tumor suppressor genes, on the other hand, act to prevent cancer development when functioning properly, while housekeeping genes and caretaker genes are not typically associated with oncogenesis.

Question 6

In a disease that is associated with a single recessive allele,the concordance among dizygotic twins should be&#10;A) 0%.&#10;B) 25%.&#10;C) 50%.&#10;D) 75%.&#10;E) 100%.

Accepted Answer

The answer of In a disease that is associated with...

Question 7

The term that refers to the linkage of alleles or molecular markers along a single chromosome is&#10;A) loss of variation.&#10;B) association group.&#10;C) recombination group.&#10;D) haplotype.

Accepted Answer

A haplotype is a group of alleles or molecular markers that are inherited together from a single parent, indicating their linkage along a single chromosome.

Question 8

In the analysis of a family,you notice that males are more likely to contract a certain disease,and the daughters of affected males produce 50% of their sons affected with the disease.This disease is displaying which of the following patterns of inheritance?

A) X-linked recessive
B) autosomal recessive
C) autosomal dominant
D) None of these choices are correct.

Accepted Answer

The pattern described is characteristic of X-linked recessive inheritance, where affected males pass the disease allele to all their daughters, who become carriers, and these carrier daughters have a 50% chance of passing the allele to their sons, who will be affected.

Question 9

The process of ________ removes amniotic fluid from a pregnant mother to examine fetal cells for genetic problems.&#10;A) amniocentesis&#10;B) chorionic villus sampling&#10;C) preimplantation genetic diagnosis&#10;D) in vitro fertilization

Accepted Answer

Amniocentesis is the procedure of removing amniotic fluid from a pregnant mother for genetic testing. Chorionic villus sampling, preimplantation genetic diagnosis, and in vitro fertilization are other reproductive technologies used for genetic testing, but they do not involve the removal of amniotic fluid.

Question 10

Which of the following is typically associated with an autosomal recessive pattern of inheritance?&#10;A) an affected offspring has one or more affected parents&#10;B) an affected individual with one affected parent will have 50% of its offspring affected&#10;C) two affected heterozygous individuals will have 25% of their offspring unaffected&#10;D) an affected offspring has two unaffected parents

Accepted Answer

Autosomal recessive inheritance typically requires two copies of the mutant gene - one from each parent. Therefore, an affected offspring typically has two unaffected parents. Choices A, B, and C are not typical of autosomal recessive inheritance.

Question 11

What are the general ways that tumor supressors and oncogenes act?&#10;A) Tumor suppressors inhibit the cell cycle and oncogenes stimulate the cell cycle.&#10;B) Oncogenes inhibit the cell cycle and tumor suppressors stimulate the cell cycle.&#10;C) Both tumor suppressors and oncogenes stimulate the cell cycle.&#10;D) Both tumor suppressors and oncogenes inhibit the cell cycle.

Accepted Answer

The answer of What are the general ways that tumor...

Question 12

An oncogene form of Ras would have which of the following characteristics?&#10;A) decreased GTPase activity&#10;B) an increased number of copies in the cell&#10;C) decreased exchange of GTP for GTP&#10;D) increased GTPase activity

Accepted Answer

The answer of An oncogene form of Ras would have...

Question 13

A disease that is lethal only in the homozygous condition is most likely which of the following?&#10;A) autosomal recessive&#10;B) autosomal dominant&#10;C) X-linked&#10;D) None of these choices are correct.

Accepted Answer

The answer of A disease that is lethal only in...

Question 14

After genetic testing,a person is identified with an inherited mutation associated with a specific class of cancer.Which of the following is incorrect?&#10;A) The person will definitely develop the cancer in their lifetime.&#10;B) The person is predisposed to the development of the cancer.&#10;C) The mutation is probably in a tumor-suppressing gene.&#10;D) The person may pass the trait on to their offspring.

Accepted Answer

The answer of After genetic testing,a person is identified with...

Question 15

Caspases are active during which of the following?&#10;A) the normal cell cycle&#10;B) apotosis&#10;C) viral integration&#10;D) DNA replication

Accepted Answer

The answer of Caspases are active during which of the...

Question 16

Locus heterogeneity can cause difficulties in pedigree analysis since&#160;&#10;A) the inheritance of only one gene is being analyzed.&#10;B) the inheritance of more than one gene is being analyzed.&#10;C) the cause of the disease may not have a genetic origin.&#10;D) the cause of the disease may have environmental as well as genetic origins.&#160;

Accepted Answer

The answer of Locus heterogeneity can cause difficulties in pedigree...

Question 17

The term for the use of information about a person's genotype and other clinical data in order to select a medication is referred to as&#10;A) best medical practices.&#160;&#10;B) molecular profiling.&#10;C) personalized medicine.&#10;D) minimalized drug therapy.

Accepted Answer

The answer of The term for the use of information...

Question 18

Which technique can be used at the earliest stage in a pregnancy to provide a sample for fetal genetic testing?&#10;A) amniocentesis&#10;B) chorionic villus sampling&#10;C) Both chorionic villus sampling and amniocentesis are performed at the same stage in a pregnancy.

Accepted Answer

The answer of Which technique can be used at the...

Question 19

Which of the following would indicate that a disease has a genetic,rather than environmental,cause?&#10;A) The disease has a specific age of onset.&#10;B) The disease is cured by taking an antibiotic.&#10;C) The disease occurs at the same rate in individuals that are exposed to a similar environment.&#10;D) The disease occurs as frequently between close relatives as it does in unrelated individuals.

Accepted Answer

The answer of Which of the following would indicate that...

Question 20

In a disease that has a single gene,the concordance among monozygotic twins should be&#10;A) 0%.&#10;B) 25%.&#10;C) 50%.&#10;D) 75%.&#10;E) 100%.

Accepted Answer

The answer of In a disease that has a single...

Question 21

What kind of mutation would be expected both within oncogenes and tumor suppressor genes that would result in gain-of-function or loss-of-function,respectively?&#10;A) Missense&#10;B) Amplifications&#10;C) Silent&#10;D) Neutral

Accepted Answer

The answer of What kind of mutation would be expected...

Question 22

An example of personalized medicine would be&#10;A) treatment of an infection based on the drug resistance of the bacterium.&#10;B) treatment of diabetics with synthetic instead of natural insulin.&#10;C) determining the CYP2C9 alleles present to help set the patient's coumarin dose.&#10;D) performing an appendectomy on a patient with appendicitis.

Accepted Answer

The answer of An example of personalized medicine would be&#10;A)...

Question 23

What are the potential advantages for personalized medicine? (Select all that apply.)&#10;A) More effective dosing&#10;B) Knowing which drugs will be the most effective&#10;C) Treatment of patients based on their specific physiology&#10;D) Being able to classify cancers on the way the cells look under a microscope as opposed to their genetic makeup

Accepted Answer

The answer of What are the potential advantages for personalized...

Question 24

What can cause epigenetic changes? (Select all that apply.)&#10;A) DNA methylation&#10;B) Histone acetylation&#10;C) Histone methylation&#10;D) Histone phosphorylation

Accepted Answer

The answer of What can cause epigenetic changes? (Select all...

Question 25

Epigenetics may play a role in cancer by&#10;A) causing a change in gene expression patterns.&#10;B) directly inducing inversion mutations.&#10;C) directly resulting in gene deletions.&#10;D) causing translocations.

Accepted Answer

The answer of Epigenetics may play a role in cancer...

Deck 22: Medical Genetics and Cancer