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Test Bank Thompson & Thompson Genetics in Medicine 8th Edition Authors Robert L. Nussbaum, Roderick R. McInnes, Huntington F Willard.

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Chapter 8: Complex Inheritance of Common Multifactorial Disorders 1. Which of the following is characteristic of multifactorial inheritance? A) Disorders caused by a single gene mutation B) Disorders influenced by both genetic and environmental factors C) Disorders only transmitted through mitochondrial DNA D) Traits passed solely through dominant alleles Answer: B Rationale: Multifactorial disorders arise from the interaction of multiple genes and environmental factors, such as lifestyle or diet. 2. A nurse is assessing a patient with a family history of type 2 diabetes. Which concept applies to this disorder? A) Autosomal dominant inheritance B) Multifactorial inheritance C) X-linked inheritance D) Mitochondrial inheritance Answer: B Rationale: Type 2 diabetes is a common example of a disorder with multifactorial inheritance. 3. Which term describes the phenomenon where multiple genetic and environmental factors contribute to a disease threshold? A) Genetic drift B) Polygenic inheritance C) Threshold model D) Gene-environment correlation Answer: C Rationale: The threshold model explains that for a multifactorial disorder to manifest, the cumulative effect of genetic and environmental factors must surpass a certain threshold. 4. Which of the following is an example of a multifactorial disorder? A) Huntington’s disease B) Cystic fibrosis C) Coronary artery disease D) Hemophilia A Answer: C Rationale: Coronary artery disease is influenced by multiple genetic and environmental factors, making it a multifactorial disorder. 5. A nurse is counseling a patient with a family history of hypertension. What should the nurse emphasize? A) Lifestyle changes can modify the risk of developing the condition. B) The disorder follows a Mendelian inheritance pattern. C) Environmental factors have no influence on the disease. D) The condition will inevitably develop if both parents have hypertension. Answer: A Rationale: Hypertension is a multifactorial disorder, meaning environmental factors like diet and exercise can modify the risk. 6. Which type of study is most useful in assessing the genetic contribution to multifactorial disorders? A) Case-control study B) Genome-wide association study (GWAS) C) Randomized controlled trial D) Cohort study Answer: B Rationale: GWAS identify genetic variations across the genome that are associated with complex traits and multifactorial disorders. 7. Which multifactorial disorder has been associated with the APOE gene? A) Type 1 diabetes B) Alzheimer’s disease C) Cystic fibrosis D) Fragile X syndrome Answer: B Rationale: Variants in the APOE gene, particularly APOE ε4, are associated with an increased risk of Alzheimer’s disease. 8. A nurse advises a pregnant woman about folic acid intake. Which multifactorial condition is folic acid known to help prevent? A) Neural tube defects B) Down syndrome C) Turner syndrome D) Duchenne muscular dystrophy Answer: A Rationale: Adequate folic acid intake during pregnancy can reduce the risk of neural tube defects in the fetus. 9. What is the term for genetic susceptibility to a disease that only manifests in the presence of environmental triggers? A) Epigenetics B) Heritability C) Genetic predisposition D) Genetic drift Answer: C Rationale: Genetic predisposition refers to an increased likelihood of developing a disease due to specific genetic factors, which may require environmental triggers to manifest. 10.A patient with familial hypercholesterolemia is being counseled. Which pattern of inheritance does this disorder exhibit? A) Autosomal recessive B) X-linked recessive C) Autosomal dominant D) Multifactorial Answer: C Rationale: Familial hypercholesterolemia follows an autosomal dominant inheritance pattern but also has environmental influences on disease severity. 11.Which gene-environment interaction contributes to the development of type 2 diabetes? A) Sedentary lifestyle and genetic variants in the TCF7L2 gene B) Low folate levels and mutations in the CFTR gene C) Exposure to UV light and mutations in the BRCA1 gene D) Smoking and deletions on chromosome 21 Answer: A Rationale: Variants in the TCF7L2 gene combined with a sedentary lifestyle increase the risk of type 2 diabetes. 12.Which concept explains why identical twins might not always develop the same multifactorial disorder? A) Genetic heterogeneity B) Incomplete penetrance C) Environmental variation D) Pleiotropy Answer: C Rationale: Environmental factors can differ between identical twins, leading to differences in the expression of multifactorial disorders. 13.Which characteristic is commonly seen in multifactorial diseases? A) Early onset with severe symptoms B) Predictable inheritance patterns C) Clustering within families D) A single gene responsible for the condition Answer: C Rationale: Multifactorial diseases tend to cluster in families due to shared genetic and environmental factors. 14.Which of the following traits is likely to follow a multifactorial pattern of inheritance? A) Eye color B) Cystic fibrosis C) Sickle cell anemia D) Blood type Answer: A Rationale: Traits like eye color are influenced by multiple genes and environmental factors, making them multifactorial. 15.A patient asks about heritable risk for schizophrenia. What should the nurse explain? A) Schizophrenia is strictly genetic and environmental factors do not influence it. B) Family history increases the risk, but environmental factors also play a significant role. C) Schizophrenia follows a simple Mendelian pattern of inheritance. D) The disorder can only be inherited through the paternal lineage. Answer: B Rationale: Schizophrenia is a multifactorial disorder, with both genetic predisposition and environmental factors contributing to its development

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Medical Genetics
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Medical genetics

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Test Bank Thompson & Thompson Genetics in Medicine
8th Edition
Authors: Robert L. Nussbaum, Roderick R. McInnes, Huntington F Willard

@2024

,Chapter 1: Introduction to Genetics

1. Which of the following best defines genetics?
A) The study of the structure and function of DNA
B) The study of heredity and variation in organisms
C) The study of the genetic basis of disease
D) The study of the evolution of species
Answer: B
Rationale: Genetics is defined as the study of heredity and variation in organisms.
2. What is the primary function of DNA?
A) To provide energy for cellular processes
B) To store and transmit genetic information
C) To catalyze biochemical reactions
D) To form the structural basis of cells
Answer: B
Rationale: The primary function of DNA is to store and transmit genetic information
necessary for the growth, development, and reproduction of organisms.
3. Which of the following terms refers to observable characteristics of an
organism?
A) Genotype
B) Phenotype
C) Allele
D) Locus
Answer: B
Rationale: The phenotype refers to the observable characteristics or traits of an
organism, influenced by both genetic and environmental factors.
4. What is the term for a variant form of a gene?
A) Allele
B) Genotype
C) Chromosome
D) Locus
Answer: A
Rationale: An allele is a variant form of a gene that can exist at a specific locus on a
chromosome.
5. In the context of genetics, what does the term "homozygous" mean?
A) Having two different alleles for a particular gene
B) Having two identical alleles for a particular gene

, C) Having multiple alleles for a single gene
D) Having no alleles for a particular gene
Answer: B
Rationale: Homozygous refers to having two identical alleles for a particular gene,
while heterozygous means having two different alleles.
6. Which of the following best describes the role of chromosomes in genetics?
A) They are the units of heredity passed from parents to offspring.
B) They are the structures that contain DNA and associated proteins.
C) They determine the physical traits of an organism.
D) They are responsible for the replication of DNA.
Answer: B
Rationale: Chromosomes are structures that contain DNA and associated
proteins, playing a key role in the organization and expression of genetic material.
7. What is the function of ribonucleic acid (RNA) in the cell?
A) To provide structural support
B) To store genetic information
C) To translate genetic information into proteins
D) To replicate DNA
Answer: C
Rationale: RNA plays a crucial role in translating genetic information from DNA into
proteins through processes like transcription and translation.
8. Which genetic disorder is caused by a mutation in the CFTR gene?
A) Sickle cell anemia
B) Cystic fibrosis
C) Huntington's disease
D) Down syndrome
Answer: B
Rationale: Cystic fibrosis is caused by mutations in the CFTR gene, which affects
the transport of chloride ions across cell membranes.
9. Which of the following represents a common mechanism of genetic
inheritance?
A) Mitochondrial inheritance
B) Epigenetic inheritance
C) Polygenic inheritance
D) All of the above
Answer: D
Rationale: All the options represent common mechanisms of genetic inheritance
that can affect the expression of traits and the risk of genetic disorders.

, 10. What is the purpose of genetic counseling?
A) To diagnose genetic disorders
B) To provide information and support to individuals and families regarding genetic
conditions
C) To perform genetic testing
D) To determine the mode of inheritance of a trait
Answer: B
Rationale: Genetic counseling aims to provide information, support, and guidance
to individuals and families regarding genetic conditions and the implications for
health and disease.
12. Which of the following is an example of a monogenic disorder?
A) Diabetes mellitus type 2
B) Cystic fibrosis
C) Hypertension
D) Autism spectrum disorder
Answer: B
Rationale: Monogenic disorders, such as cystic fibrosis, result from mutations in a
single gene.
13. What is a characteristic of autosomal recessive inheritance?
A) Males are more affected than females.
B) Only one mutated allele is required for the disorder to be expressed.
C) The disorder appears only when both alleles are mutated.
D) The trait skips generations.
Answer: C
Rationale: Autosomal recessive disorders require two mutated alleles (one from
each parent) for the condition to be expressed.
14. Which process leads to the formation of gametes with half the usual number of
chromosomes?
A) Mitosis
B) Meiosis
C) Replication
D) Translation
Answer: B
Rationale: Meiosis is a type of cell division that results in gametes with half the
number of chromosomes as the parent cell, essential for sexual reproduction.
15. Which of the following best describes a genotype?
A) The physical expression of a trait
B) A pair of chromosomes

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