260 Patho Exam 1

Which of the following is true of epigenetics? Select all that apply. A Epigenetics is influenced by foods we eat, smoking, and exposure to chemicals or stress. B Epigenetic changes to the egg or sperm can be transmitted to multiple generations. C Epigenetics is the result of signaling from the fetal environment. D Epigenetics is permanent. E Epigenetics manifests only as disease. - correct answer Answer: A, B, and C Epigenetics can be affected by our environment; it is a change in the phenotype without a change in the genotype. This affects how cells read the genes. (Video - Epigenetics and the Future of our Genes) Which disease is triggered by a combination of multiple genes and environment? A Multifactorial B Epigenetic C Single nucleotide polymorphism D Mendelian - correct answer Answer: A The individual will inherit one or more genes that predispose them to the disorder; an environmental trigger contributes to the development of the disorder. (p. 32) Type 2 diabetes is an example of which of the following? A Mitochondrial disorder B Multifactorial disorder C Single nucleotide polymorphism D Autosomal recessive disorder - correct answer Answer: B The individual will inherit one or more genes that predispose them to the disorder; an environmental trigger contributes to the development of the disorder. (p. 32) Which of the following disorders is an autosomal recessive disorder where the protein that codes for chloride channel is mutated, causing excessive, thick mucus in the pancreas, reproductive organs, and lungs? A Huntington B Marfans C Cystic Fibrosis D Tay Sachs - correct answer Answer: C In Cystic Fibrosis thick mucus builds up in the lungs causing poor respiratory function, in the pancreas causing the need for enzyme supplements and reproductive organs. Which statement regarding the sodium and potassium pump is correct? A The concentration of sodium ions should be higher inside the cell than in the extracellular compartment. B Maintaining homeostasis of the sodium and potassium levels requires ATP and the Na/K pump. C The concentration of potassium ions should be higher in the extracellular compartment than in the intracellular compartment. D Maintaining homeostasis of the sodium and potassium levels requires passive movement through the Na/K pump. - correct answer Answer: B Active transport helps to maintain resting potential and cellular fluid volume. (p. 4) Which of the following refers to when only 80% of people with a genotype exhibit a phenotype? A Recessiveness B Dominance C Penetrance D Expressivity - correct answer Answer: C The ratio of the number of persons with a phenotype, compared to those with the genotype. (p. 31) Which of the following is a variation in DNA sequencing that occurs when a single nucleotide (A, T, C, or G) in a genome is substituted with another nucleotide? A Inversion B Translocation C Frameshift D Single Nucleotide Polymorphism (SNP) - correct answer Answer: D When there is a change in one nucleotide in a gene sequence. (p. 32) Which of the following carries the genetic information for protein synthesis from the nucleus to the ribosomes? A tRNA B codons C mRNA D DNA - correct answer Answer: C Protein is synthesized in a two-step process known as transcription (in the nucleus), and then translation in the ribosome by mRNA (messenger RNA) (p. 7-8). A 13-year-old female has a karyotype that reveals an absent homologous X chromosome with only a single X chromosome present. Her features include a short stature, lack of breast development, and a webbed neck. What is her diagnosis? A Fragile X Syndrome B Down Syndrome C Turner Syndrome D Klinefelter Syndrome - correct answer Answer: C These are the characteristics of Turner syndrome. It affects females, instead of 46 chromosomes there are 45, only one X chromosome, designated as 45X. (p. 35) Which of the following refers to the recognizable traits, physical or biochemical, associated with a specific genotype? A Phen