Concepts of Genetics (12th Edition)
Concepts of Genetics (12th Edition)
12th Edition
ISBN: 9780134604718
Author: William S. Klug, Michael R. Cummings, Charlotte A. Spencer, Michael A. Palladino, Darrell Killian
Publisher: PEARSON
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Chapter 22, Problem 9PDQ

(a)

Summary Introduction

To determine: Whether the individual sequencing that identifies mutation associated with Alzheimer’s is a prognostic test or diagnostic test.

Introduction: Gene tests are utilized for adult, childhood, and prenatal prognosis and diagnosis of genetic diseases.

(b)

Summary Introduction

To determine: Whether the ASO testing that identifies the carrier of mutant β-globin allele is a prognostic test or diagnostic test.

Introduction: ASO (allele-specific oligonucleotide) is single-stranded DNA (deoxyribonucleic acid) designed to hybridize to the complementary specific allele in genome.

(c)

Summary Introduction

To determine: Whether the DNA sequencing of tumor that reveals BRCA1 gene mutation is a prognostic test or diagnostic.

Introduction: Genomics applies DNA sequencing methods, recombinant DNA, and bioinformatics to assemble, sequence, and analyze genomes.

(d)

Summary Introduction

To determine: Whether genetic testing in a healthy teenager that identifies SNP associated with autism is a prognostic test or diagnostic.

Introduction: Most genetic differences between human beings result from SNPs (single nucleotide polymorphisms and CNVs (copy number variations).

(e)

Summary Introduction

To determine: Whether a genetic test in an adult with Asperger syndrome that reveals an SNP in GABRB3 gene is a prognostic test or a diagnostic.

Introduction: SNP (single-nucleotide polymorphism) refers to a variation in single nucleotide pair, as detected during genomic analysis.

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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.
Which of the following effectively describes the situation of someone with an inherited predisposition to cancer such as familial adenomatous polyposis or BRCA-associated familial breast cancer?  Choose all that apply a) If they get malignant cancer, somatic mutations will not have been a factor b) Their cancer will most likely arise in their germ cells, not their somatic cells c) None of the answers effectively describes the situation d) Every cell of their body contains a gain-of-function allele of an oncogene e) Most cells in their body contain multiple cancer-causing mutations f) Every cell of their body contains a defective, loss-of-function allele of a tumor suppressor gene
It has been suggested that it would make the study of human diseases easier if cloned transgenic animals were produced that carried faulty versions of human genes (e.g., the gene that causes cystic fibrosis). a. Why would such animals be useful in medical research? : b. What ethical questions are raised by the creation of such transgenic animals?
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