Download Homework for Introduction to Pathophysiology Terms and

PATHOPHYSIOLOGY
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Homework for Introduction to Pathophysiology Terms
and Chapter 2 - Genes and Genetic Diseases
Instructions:
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The first three questions are from the “Introduction to Pathophysiology Terms” in Lecture #1.
When finished, enter your answers on the electronic version of the homework posted on Canvas.
You may do this as many times as you want until you are happy with your grade.
Survey of Facts
1. A person with high blood pressure can develop renal problems and enlargement of the left ventricle. These
effects can best be described as the ____ of high blood pressure.
A) signs
B) differential diagnosis
C) sequelae
D) etiology
2. All of the following would be considered symptoms (rather than signs) EXCEPT:
A) cough
B) sensitivity to light
C) hot flashes
D) acidosis
3. A patient with multiple sclerosis can expect a shortened life expectancy and may experience progressive
paralysis. This statement is best described as the _____.
A) prognosis
B) etiology
C) differential diagnosis
D) symptoms
4. Which of the following mutations have the most significant effect on protein synthesis?
A) Base pair substitutions
B) Silent mutations
C) Intron mutations
D) Frameshift mutations
5. Which of the following is CORRECT about the process of meiosis?
A) It results in daughter cells that have 23 pairs of chromosomes (46 total).
B) It results in daughter cells that have 23 unpaired chromosomes.
C) It is the process that forms an embryo from a single fertilized egg.
D) Each division produces two daughter cells that are identical to the parent cell.
6. DNA contains:
A) the enzymes necessary for cell division.
B) the genetic code for all parts of the body.
C) a genetic blueprint for making proteins only.
D) proteins for structural elements in the cell.
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7. Adenine, cytosine, guanine, and thymine are:
A) phosphate groups.
B) amino acids.
C) the four helical strands of DNA.
D) nitrogenous bases.
8. When DNA replicates itself, the two strands in the double helix split:
A) between the sugar and phosphate
B) between the nitrogenous bases
C) between the sugar and nitrogenous base
D) between the phosphate and nitrogenous base
9. Which of the following gives the correct combinations which form complementary base pairs?
A) A with G; C with T
B) T with G; A with C
C) A with T; G with C
D) all of the above could form
10. Mutations can result in abnormal:
A) DNA only.
B) RNA only.
C) proteins only.
D) DNA, RNA, and proteins.
11. Which of the following statements about mutations is correct?
A) Mutations always lead to genetic disease.
B) Spontaneous mutations occur as a result of exposure to a mutagen.
C) Mutations are alterations in normal DNA sequence.
D) Mutations are always inherited.
12. The process by which messenger RNA is formed from DNA for protein synthesis is called:
A) translation.
B) transcription.
C) mitosis.
D) meiosis.
13. The process of forming a polypeptide based on the information encoded in mRNA is called:
A) translation.
B) transcription.
C) replication.
D) transition.
14. Sex chromosomes are:
A) the largest chromosomes on a karyotype
B) paired homologous chromosomes
C) present only after puberty
D) the 23rd pair of chromosomes
15. Which of the following types of genetic disorders is the most common cause of miscarriage?
A) Autosomal dominant
B) Autosomal recessive
C) X-linked recessive
D) Chromosomal
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16. The condition in which a single chromosome is missing in each cell is called:
A) a haploid condition.
B) an autosomy.
C) a monosomy.
D) Down syndrome.
17. Trisomy is a form of:
A) polyploidy.
B) aneuploidy.
C) monosomy.
D) autosomal dominant inheritance.
18. Chromosomal nondisjunction results in:
A) monosomies and trisomies.
B) chromosomal translocation.
C) broken chromosomes.
D) normal cell division.
19. Down syndrome occurs with a trisomy of which chromosome?
A) 6
B) 8
C) 14
D) 21
20. The most important risk factor for Down syndrome is:
A) increased maternal age.
B) a family history of Down syndrome.
C) fetal exposure to teratogens during pregnancy.
D) previous multiple pregnancies.
21. A person with Klinefelter syndrome has which of the following genetic abnormalities?
A) Trisomy 13
B) Trisomy 21
C) X
D) XXY
22. Which of the following aneuploidy disorders is found only in females?
A) Turner syndrome
B) Down syndrome
C) Klinefelter syndrome
D) None of the above
23. The most common genotype for Turner syndrome is:
A) X.
B) XX.
C) XXX.
D) XXXX.
24. A karyotype is:
A) a method for identifying single gene disorders.
B) the sequence of DNA in a gene.
C) an ordered photographic display of a set of chromosomes from a single cell.
D) a sequence of RNA that codes for a particular protein.
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25. Which of the following is NOT a term used to describe a process that results in abnormal chromosomal
structure?
A) Duplication
B) Freezing
C) Translocation
D) Deletion
26. Which of the following genetic disorders results in severe mental retardation caused by a deletion of part
of a chromosome?
A) Huntington disease
B) Cri du chat syndrome
C) Prader-Willi syndrome
D) Cystic fibrosis
27. The most serious problem associated with the inversion of genetic material is:
A) severe mental retardation in the affected individual.
B) physical disabilities.
C) chromosomal defects in offspring.
D) infertility.
28. The outward manifestation of a disease, often influenced by both genes and the environment, is called the
disease:
A) genotype.
B) allele.
C) phenotype.
D) dominance.
29. An individual who is heterozygous for a gene has:
A) alleles at a given locus that are different from one another.
B) alleles at a given locus that are the same.
C) alleles at different loci that are the same.
D) a recessive gene on chromosomal pairs.
30. A couple is planning to have children. The father is affected by an autosomal dominant disease, but the
mother does not have the disease gene. If the father is a heterozygote, what is the chance that their first
child will be affected by the autosomal dominant disease?
A) 100%
B) 75%
C) 50%
D) 25%
31. Which of the following is an accurate characteristic of an autosomal recessive pedigree?
A) On average, 50% of the children will have the autosomal recessive disease if one parent has the disease.
B) Males are affected more than females.
C) On average, 25% of the children are affected by the autosomal recessive disease if both parents are carriers.
D) There is a decreased risk of disease with consanguinity.
32. A couple has two offspring; one child has an autosomal recessive disease trait and one is normal. What
conclusions can you make about the parents?
A) One parent must have the autosomal recessive disease.
B) Both parents must have the autosomal recessive disease.
C) One parent is a carrier for the autosomal recessive gene and the other parent is normal.
D) Both parents could be carriers.
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33. Which of the following genetic diseases manifests with progressive dementia in middle to later
adulthood?
A) Duchenne muscular dystrophy
B) Cystic fibrosis
C) Achondroplasia
D) Huntington disease
34. Which of the following is an accurate characterization of an X-linked recessive pedigree?
A) Disease is seen more often in males than females.
B) A pattern of skipped generations is rare.
C) Males are gene carriers.
D) Mothers usually transmit the disease to their daughters.
35. Steven has Duchenne muscular dystrophy. He inherited this condition from his:
A) mother only.
B) father only.
C) mother and father.
D) mother or father.
36. Which of the following genetic diseases is transmitted through autosomal recessive inheritance?
A) Duchenne muscular dystrophy
B) Cystic fibrosis
C) Hemophilia
D) Huntington disease
37. The gene defect on the long arm of chromosome 7 in cystic fibrosis results in:
A) delayed development of the central nervous system.
B) clotting abnormalities and prolonged bleeding.
C) defective chloride transportation, causing abnormally thick mucus.
D) abnormal bone growth.
Critical Thinking Questions (these are similar to the level of questions you can expect on tests)
38. Which of the following mutations would be most likely to impair production of a normally functioning
protein?
A) Insertion of three bases in a row
B) A point mutation within an intron
C) Deletion of a single base
D) A mutation that changes a C to a G
39. A 41-year-old pregnant female miscarries in her first trimester. A karyotype shows that the fetus had 45
chromosomes. Which of the following describes this condition?
A) Euploidy
B) Triploidy
C) Tetraploidy
D) Aneuploidy
40. Genetic testing reveals that a woman has inherited an autosomal dominant disease gene from her mother,
and yet she does not exhibit any symptoms of the disease. Which of the following could best explain this?
A) The disease gene has partial penetrance.
B) The disease is caused by epigenetic modifications.
C) She is a chromosomal mosaic.
D) She has Turner syndrome.
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41. A healthy couple has a son with hemophilia. The couple later divorces and each remarries. Which of the
following statements is CORRECT?
A) If the father has more children with his new wife, there is a 50% chance that his daughters will have
hemophilia.
B) If the father has more children with his new wife, there is a 50% chance that his sons will have hemophilia.
C) If the mother has more children with her new husband, there is a 50% chance that her daughters will have
hemophilia.
D) If the mother has more children with her new husband, there is a 50% chance that her sons will have
hemophilia.
42. A man with blue eyes (genotype bb) and a woman with brown eyes (genotype Bb) have a child with blue
eyes. What is the probability that their next child will also have blue eyes?
A) 25%
B) 50%
C) 75%
D) less than 50% because the first child had blue eyes