Exam 12: Gene Mutation

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

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 __________.

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).

Mutational hot spots occur most often where the DNA is

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

Copy number variants

Estimates of spontaneous mutation rates are made using dominant disorders because

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

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

Spontaneous mutation occurs when

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

Transposable elements

A chemical or physical agent that causes mutations is called a

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

Direct repeats can cause mutation when

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

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

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