Ch24 Medical Genetics – Test Bank with Answers | 7th Ed

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1) Select the factors that would indicate that a disease had a genetic, rather than an environmental, cause. (Check all that apply.)

A) The disease spreads from person to person.
B) The disease has a specific age of onset.
C) There is a high level of the disease's concordance among monozygotic twins.
D) The disease does not spread to people sharing similar environmental situations.

2) Select the statements that are associated with an autosomal dominant pattern of inheritance. (Check all that apply.)

A) An affected offspring has one or more affected parents.
B) An affected offspring has two unaffected parents.
C) An affected individual with one affected parent will have 50% of its offspring affected.
D) Two affected heterozygous individuals will have 25% of their offspring unaffected.

3) What diseases are caused by prions? (Check all that apply.)

A) Phenylketonuria
B) Creutzfeldt-Jacob disease
C) Gerstmann-Straussler-Scheinker disease
D) Familial fatal insomnia

4) In a disease that is caused by a single gene, the concordance among monozygotic twins should be __________.

A) 0%
B) 25%
C) 50%
D) 75%
E) 100%

5) In a disease that is associated with a single recessive allele, the concordance among dizygotic twins should be __________, assuming both parents are heterozygous carriers.

A) 0%
B) 25%
C) 50%
D) 75%
E) 100%

6) You are analyzing a human pedigree for a new disease and discover that the disease occurs with the same frequency in both sexes and that 25% of the children from two unaffected heterozygous parents have the disease. This disease is displaying __________ inheritance.

A) autosomal recessive
B) autosomal dominant
C) sex-linked recessive
D) sex-linked dominant

7) In the analysis of a family, you notice that males are more likely to contract a certain disease and the daughters of affected males produce 50% of their sons affected with the disease. This disease is displaying what pattern of inheritance?

A) X-linked recessive
B) Autosomal recessive
C) Autosomal dominant
D) X-linked dominant

8) Which test provides the earliest indication of genetic problems in a fetus?

A) Amniocentesis
B) Chorionic villus sampling
C) Both provide reliable indications at the same stage of development

9) What prion conformation may result in a prion-related infection?

A) PrP Sc
B) PrP C
C) Both can cause disease

10) Dizygotic twins share _______ of their genetic information.

A) 25%
B) 50%
C) 75%
D) 100%

11) The age at which a disease appears in an organism is called the _______.

A) null age
B) critical age
C) age ofincubation
D) age of onset

12) The process of _______ removes amniotic fluid from a pregnant mother to examine fetal cells for genetic problems.

A) amniocentesis
B) chorionic villussampling
C) preimplantationgenetic diagnosis
D) in vitro fertilization

13) You are working in a lab where you are studying a disease that isknown to be caused by a single nucleotide change, although the effect this change ultimately has on the protein's structure/function is unknown. You have DNA samples from multiple patients that you suspect of having this disease. What is the most efficient way to test the samples for the relevant mutation?

A) Western blotting
B) DNA sequencing
C) Karyotyping
D) Amniocentesis

14) In the United States, most newborns undergo a test for primary congenital hypothyroidism, a condition where people are unable to produce enough thyroid hormone. On a nationwide basis, this is an example of __________.

A) genetic testing
B) genetic screening
C) amniocentesis
D) preimplantation genetic diagnosis

15) Herceptin is a drug that is given to treat certain breast cancers. However, it is most effective on tumors that are overexpressing HER2. Therefore, patients are tested for HER2 overexpression before being given Herceptin. This is an example of __________.

A) concordance
B) a haplotype
C) personalized medicine
D) karyotyping

16) The general approach in which researchers and clinicians use methods that enable them to understand the molecular changes that occur in diseases such as cancer is called _________.

A) molecular profiling
B) personalized medicine
C) DNA microarrays
D) cluster analysis

17) Haplotypes between homologs in the same individual __________; haplotypes for the same chromosome in different individuals __________.

A) are always the same; are always different
B) can be the same or different; can be the same or different
C) are always the same; can be the same or different
D) can be the same or different; are always different

18) When a scientist is attempting to use haplotype analysis to link a disease-causing allele to a molecular marker, it is important for the marker to be close to the disease-causing allele, otherwise __________ may occur.

A) additional mutation
B) crossing over
C) linkage disequilibrium
D) founder effect

19) If mutations in two different genes give rise to a single disease then the disease exhibits __________.

A) multiallelic variation
B) locus dimorphism
C) locus heterogeneity
D) an inheritance pattern that looks as though it is autosomal dominant

20) Genome wide association studies are used __________.

A) to identify the mutation that causes a disease
B) to identify single nucleotide polymorphisms that are near disease causing genes
C) to find the total variation that occurs in human genomes
D) to describe the number of alleles for a specific gene

21) The best term for trying to introduce genes into or modify genes in somatic cells to treat a disease is __________.

A) haplotype treatment
B) personalized medicine
C) molecular medicine
D) gene therapy

22) Microarrays can be used to __________.

A) create a molecular profile
B) perform GWAS studies
C) identify the presence of tumors in the body
D) indentify if twins are monozygotic or dizygotic

23) Although the treatment of patients with ADA with gene therapy was encouraging, what is needed to conclude that this approach should become a standard of care that would be used for all patients with ADA?

A) Showing that the therapy is not toxic for many patients
B) Showing that the therapy is effective in many patients
C) Showing that the therapy could be performed in vivo and not just ex vivo
D) Demonstrating that a viral vector was not necessary and that liposomes could be used as well

24) What is one possible problem with some gene therapy approaches?

A) The protein products from the genes that are used for therapy may cause an immune response from the treated individual.
B) The proteins produced by the introduced genes may be mutated by the cell they are introduced into.
C) Vectors used to introduce the therapeutic genes may also accidentally cause disease.
D) The liposomes that are used may damage the cellular membrane.

25) What is a benefit for using a personalized medicine approach to treating disease?

A) There will be a greater understanding of how medicines work.
B) Treatments will be more effective in treating diseases.
C) Patients should only receive treatments that will be effective.
D) The cost of producing pharmaceuticals will decline.

26) Would you predict that Kuru would be able to be treated by gene therapy using the nomral PrP c gene?

A) No
B) Yes if the PrP c expression is high
C) Yes if the PrP c expression is low
D) Yes if the PrP c expression matches the expression already happening in the nerve cell

27) Haplotype mapping would be least useful in the study of __________.

A) dizygotic twins
B) monozygotic twins
C) brothers and sisters
D) grandparents and grandchildren

28) Achondroplasia is caused by a dominant allele of the fibroblast growth factor receptor-3 (FGF-3) gene that expresses an overactive version of the growth factor receptor. Would you be able to treat achondroplasia with gene therapy using a normal version of the FGF-3 gene?

A) No
B) Yes if the ratio of expression of the normal to mutant was sufficiently high
C) Yes if you could introduce many copies of the normal FGF-3 receptor gene into the cell
D) Yes if the individual is a heterozygote for the normal and mutant allele of FGF-3 receptor gene

29) A mother who is a carrier for a mutation in one copy of her factor VIII genes has children with a non-hemophiliac male. None of the male children have hemophilia but one of the daughters does. What might this be an example of?

A) Genomic imprinting
B) X linked dominant gene
C) Locus heterogeneity
D) X linked recessive gene

30) A founder has a mutation on an autosomal chromosome that is located between the haplotypes 3Band 4Bthat results in a new disease.
This is the order of haplotypes on the founders chromosome 1A 2C 3B 4B
The haplotypes of 4grandchildren of this founder are as follows:
Grandchild 1: 1A 2B 3C 4B/1A 2B 3A 4C
Grandchild 2: 1A 2C 3B 4B/1B 2A 3B 4A
Grandchild 3: 1B 2A 3A 4B/1C 2B 3A 4A
Grandchild 4: 1B 2C 3B 4A/1A 2B 3A 4C
Which grandchild is most likely to carry the mutsation that occured in the founder?

A) Grandchild 1
B) Grandchild 2
C) Grandchild 3
D) Grandchild 4

31) What type of genetic disease would most likely be screened for as opposed to testing just high risk individuals?

A) Diseases that are caused by X linked recessive alleles
B) Diseases that are relatively rare in a population
C) Diseases that are relatively common within a population
D) Diseases that are caused by autosomal dominant alleles

32) Prions can contain either DNA or RNA as their genetic material.

⊚ true
⊚ false

33) A pedigree analysis is the study of family trees to establish patterns of inheritance.

⊚ true
⊚ false