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Exam 12: Gene Mutation

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Question 1

Multiple Choice

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Sanjay and Indira have thalassemia minor.Their young daughters are dizygotic (fraternal) twins.Malonie has thalassemia minor like her parents,but Jewel has the more severe thalassemia major.The more serious case most likely arose because

A) Jewel inherited two wild type alleles from her carrier parents.
B) Jewel inherited a dominant form of the condition.
C) Jewel inherited two recessive mutant alleles in the beta globin gene that cause thalassemia.
D) Jewel also has sickle cell disease.
E) Malonie underwent a deletion in the beta globin gene.

F) All of the above
G) None of the above

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C

Question 2

Multiple Choice

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Estimates of spontaneous mutation rates are made using dominant disorders because

A) it takes several generations for the phenotype to change.
B) they do not affect offspring.
C) the mutant phenotype is obvious.
D) they can be identified by DNA sequencing.
E) they are much more common than recessive disorders.

F) B) and E)
G) A) and D)

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Question 3

Multiple Choice

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A mutation is more likely to affect a differentiated cell than a stem cell due to

A mutation in a collagen gene is likely to affect the phenotype because

The first single-gene disorder for which the mechanism of mutation was understood was

The chance that the average gene undergoes a spontaneous mutation is about 1 in

A man and woman of normal height have a son with achondroplasia.They want to have another child,and wonder what the risk is that he or she will also have this form of dwarfism.The risk is

The Hutterites are a peace-loving people descended from people who lived in the Austrian province of Tyrol in the 16th century,and immigrated to Montana and the Dakotas,then to Canada.Bowen-Conradi syndrome is a rare autosomal condition seen only among Hutterites,who marry within their own communities.The condition causes extreme growth retardation shortly before and after birth,resulting in early childhood death.The mutation that causes Bowen-Conradi syndrome changes an aspartic acid to a glycine by replacing an A with a G.This is a _______ mutation affecting the _____ codon position.(Consult the genetic code in figure 10.12 for your answer) .

Transposable elements

Spontaneous mutation occurs when

A germline mutation passes from generation to generation because it occurs during the DNA replication before

The parents-to-be were shocked when an ultrasound scan done in the second trimester of the pregnancy showed a fetus with obviously broken leg bones and ribs.The doctor diagnosed osteogenesis imperfecta.This is caused by a mutation in a gene that encodes

Copy number variants

In Huntington disease,the mutation causes the encoded protein to have a novel function from the wild type protein.This is an example of

A chemical or physical agent that causes mutations is called a

Mutational hot spots occur most often where the DNA is

In a form of early-onset Alzheimer disease caused by a mutation on chromosome 14,A is changed to T at the first position of codon 146,which substitutes leucine for methionine.This mutation is a _______ and is __________.

Direct repeats can cause mutation when

Palindrome sequences are often found at mutation hotspots.Which of the following is a palindrome?

The fact that myotonic dystrophy worsens with each generation is due to