Exam 15: Gene Mutation and Molecular Medicine

The first three nucleotides of a six-nucleotide palindromic restriction site are CAG; what are the next three? (Note: only the coding strand is shown.)

Premutated alleles are typically found in

Which technique usually requires pedigree information?

Individuals with PKU tend to have high levels of _______ in their blood because they have an inactive variant of an _______.

The first four nucleotides of an eight-nucleotide restriction enzyme recognition sequence are CTGA.What are the next four, if the restriction enzyme recognizes the same sequence motif on both strands? (Note: Only the coding strand is shown.)

A person with Duchenne muscular dystrophy is likely to have _______ in the gene that produces dystrophin.

Recognition sequences are

Fed on a standard diet, mice with a genetic mutation appear like wild-type mice.On a diet with limited protein, these mice have difficulty growing, but the wild-type individuals continue growing.This is an example of a _______ mutation.

Genetic diagnosis by DNA fingerprinting

Lynch syndrome, formerly known as hereditary nonpolyposis colorectal cancer (HNPCC), results from a mutation in one of four genes-MLH1, MSH2, MSH6, and PMS2-that encode proteins involved in DNA repair.Mutations in the EPCAM gene also cause Lynch syndrome because it is situated next to the MSH2 gene.In addition to increased risk for colorectal cancer, people with this syndrome have increased risk for many other types of cancer.Based on the information provided here, are Lynch syndrome mutations loss-of-function or gain-of-function mutations? Describe how these mutations increase incidence of cancer development.

A clump of cells in a person's intestine is genetically different from cells elsewhere in the body.We can say that these cells in the intestine have a _______ mutation.

In their study of the frequency of mutations induced by exposure to different classes of strong mitogens, researchers should focus their genomic analysis on "hot spot" regions, such as those

The goal of _______, an emerging type of treatment for disease, is to insert a normal copy of the gene that will be expressed in the host.

Crime investigators have obtained a sample of DNA from a crime scene that is believed to be from the main suspect, who remains at large.To determine whether the DNA matches their main suspect, they compare the DNA sample with that of the suspect's parents, using DNA fingerprinting.The investigators focus on _______ sequences in their DNA analysis.

Ingesting which of the following foods would be dangerous for a child with PKU?

Loss-of-function mutations in one allele tend to show _______ inheritance because the normal enzyme activity of one wild-type allele usually _______.

Refer to the figure. The figure shows a series of STRs (just for one locus) for a mother, a child, and three men who are all being considered as the possible biological father (A, B, and C).Which of the individuals could be the father?

Inborn errors of metabolism are more frequently encountered in highly consanguineous populations.To identify all mutations in the known genes responsible for a group of metabolic disorders that were common in such a population, researchers first established a pedigree of afflicted families, _______ the genes involved, then sequenced the products.

One individual has the base A at position 768 of a DNA sequence, while another has a G.This is an example of a(n) _______.

Treating a disease by restricting the substrate is an example of modifying the _______; using a metabolic inhibitor is an example of modifying _______.