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Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN: 9780134580999
Author: Elaine N. Marieb, Katja N. Hoehn
Publisher: PEARSON
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Question
Which of the examples of genetic testing below are prognostic
tests? Which are diagnostic?
(a) Individual sequencing (personal genomics) identifies a mutation
associated with Alzheimer’s disease.
(b) ASO testing determines that an individual is a carrier for the
mutant b@globin allele (bS) found in sickle-cell anemia.
(c) DNA sequencing of a breast tumor reveals mutations in the
BRCA1 gene.
(d) Genetic testing in a healthy teenager identifies an SNP correlated
with autism.
(e) An adult diagnosed with Asperger syndrome (AS) has a
genetic test that reveals a SNP in the GABRB3 gene that is significantly
more common in people with AS than the general
population.
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- Cancer-causing mutations in genes can have different effects on the protein products expressed. a) What type of mutation would be dominant in the development of cancer? Why? b) What type of mutation would be expressed as a recessive trait in the development of cancer? Why? c) Based upon your answers to parts (a) and (b), how would you treat these situations using a gene therapy approach?arrow_forwardMany oncogenes result from mutations that cause excessive expression of a protein in cells where it is normally not expressed or is expressed at inappropriate times during development. This type of mutation can be described as ________. A) amorphic B) hypomorphic C)hypermorphic D) neomorphic E) dominant negativearrow_forward4). p53 (sometimes called TP53 for “tumor protein 53") is a human tumor suppressor gene that is mutated in the majority of human cancers (many tumor types). a. For each of the mutations described below (i-iv): is this a mutation you would expect to find when sequencing p53 alleles from tumor cells? Why or why not? i. A missense mutation encoding a hyperactive form of the protein. ii. A deletion of the gene. iii. An insertion in the promoter that increases transcription 10-fold. iv. A nonsense mutation. b. When sequencing the p53 gene in tumor cells, would you expect to find only mutant version(s) of the gene or a mix of mutant and wild type versions? c. For any of the mutations you said you would expect to find in tumor cells, would you expect tumor cells to be homozygous (same mutation on both chromosomes)? Why or why not? d. Individuals with Li-Fraumeni syndrome have a very high risk of tumors originating in various tissues due to inheritance of a loss-of-function mutant allele of…arrow_forward
- In 2013 the actress Angelina Jolie elected to have prophylactic double-mastectomy surgery to prevent breast cancer based on a positive test for mutation of the BRCA1 gene. What are some potential positive and negative consequences of this high-profile example of acting on the results of a genetic test?arrow_forwardThe protein neuroD is a critical human protein translated in the brain during development. The protein is 357 amino acids long. What is the length of the human neuroD *gene* sequence? a)357 nucleotides b)1071 nucleotides c)119 nucleotides d)You cannot determine the length of the gene from this information alone.arrow_forwardTalk about the challenges involved in determining the genetic components of polygenic illnesses. Explain complementation groups and how the biochemical underpinnings of disease are determined using them. Hereditary illnesses of genomic instability include Werner syndrome, Bloom syndrome, XP, ataxia-telangiectasia, and Fanconi anemia. Which of these ailments has molecular mechanisms behind it? Which kind of genetic instability is connected to which disorder?.arrow_forward
- Which of the following is an enabling characteristic for cancer that can increase the likelihood of both passenger and driver mutations? a) Increased angiogenesis O b) Tumor-promoting inflammation O c) Avoiding immune destruction O d) Genome instability acerarrow_forwardDetermine which statements could be used as evidence to support the argument that "DNA influences the proteins that are made" and which statements are just facts. [Select all that apply.] The HBB gene that makes beta-globin has several abnormal alleles, including HbS, HbC, and HbE. Sickle cell disease has been successfully treated using bone marrow transplantation in children and adults. The symptoms of sickle cell anemia may not appear in individuals who only carry one HbS allele, but are always apparent when both alleles are HbS. If oxygen is removed from red blood cells made by two HbS alleles, the cell will form a sickle shape.arrow_forward
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