Exam 9: Gene Mutations

Mass spectrometry detects what type or particles?

Which of the following methods can be used to screen for the presence of unknown mutations?

Which of the following methodologies was used in the Human Haplotype Mapping Project?

Which of the following describes size-exclusion HPLC?

Patient DNA has been mixed in separate wells with a probe that detects the 1691G>A mutation associated with factor V Leiden and a probe that detects the normal sequence. Cleavase is added to all wells, and the fluorescence is measured in each well. Fluorescence was detected in the well that included the normal probe, and no fluorescence was detected in the well containing the mutant probe. Which of the following assays was performed?

Which of the following mutations is more likely to result in a phenotypic change?

What does the g designate in g.225A>C?

A melt curve analysis was performed to genotype hepatitis C virus (HCV), which has been identified in a patient. When the derivative of fluorescence was plotted versus the temperature for the patient's isolate as well as for a known genotype of HCV, the two sequences had identical peaks and thus the same T_m. Which of the following is the correct interpretation of these results?

Substitution of leucine with valine in an amino acid sequence is what type of mutation?

Which of the following assays can be used in high-throughput applications?

The codon UGG is mutated to UGA. What will happen to the encoded protein?

A patient with a family history of breast cancer, in which several affected relatives have a known mutation in the BRCA1 gene, is screened for the presence of the mutation by allele-specific oligomer hybridization. Signal from the labeled oligomer corresponding to the normal sequence was observed when exposed to the patient's sample. Signal was also observed when the labeled oligomer of the mutant sequence was tested with the patient's sample. Which of the following corresponds to the correct interpretation of these results?

The amino acid sequence DAILMNCST has an S8X mutation. Which of the following correctly describes this mutation?

A single-strand conformation polymorphism (SSCP) procedure has been performed on a patient sample, and the results were compared with those from a normal reference sample. The patient bands resolved in different locations on the gel as compared with the reference bands. These results would be interpreted as which of the following?

Which of the following laboratory methods used to detect mutations relies on differences in dissociation of double-stranded DNA into single-stranded DNA at different points in a gel?

What is MALDI-TOF?

A protein with the sequence DAILMNCST is mutated such that amino acids L and M are deleted. How is this mutation noted by accepted nomenclature?

Which of the following methods has the highest sensitivity, specificity, and accuracy as far as detecting DNA mutations in clinical applications?

A reference segment of DNA has the following sequence: GCTCACCATGG. Insertion of AG occurs between positions 7 and 8 in a particular genetic disease. How is this mutation denoted by accepted nomenclature?

ELISA is based on what earlier method first used to detect insulin in plasma?