Chapter 7

Molecular Medicine
and Techniques
The future of diagnostic medicine is in molecular sites also shown. The insert was obtained from a gene, and
medicine and the analysis of DNA and RNA for exon 1 of the gene is indicated by the black box.
mutations and susceptibility genes. This chapter
will test your knowledge of the application of S
these techniques. 70
0
bp
QUESTIONS H
300 bp
Select the single best answer. 1500 bp X

1 A patient displays increasing muscle weakness and 800 bp

delayed muscle relaxation. He shows a slack jaw and
drooping eyelids. The physician has noted a loss of S
muscle mass in the calves over the years. A molecular 500 bp

bp
analysis by Southern blot using a probe against the sus- H

400
pected disease gene shows the following. The molecular
reason for the difference between the normal and dis- X
ease gene is which of the following?

N D
2 If this vector plus insert were to be cleaved to comple-
tion with enzymes S and X simultaneously, what size
bands would be observed?
(A) 1,600 bp, 2,600 bp
(B) 400 bp, 1,500 bp, 2,300 bp
(C) 400 bp, 1,000 bp, 1,300 bp, 1,500 bp
(D) 800 bp, 1,500 bp, 1,900 bp
(E) 800 bp, 900 bp, 1,000 bp, 1,500 bp

3 Which labeled DNA fragment would work best for a

N = Normal Northern blot analysis?
D = Person with disease (A) The 300 bp HX restriction fragment
(B) The 1,100 bp HS restriction fragment
(A) Gene duplication
(C) The 500 bp HS restriction fragment
(B) Gene deletion
(D) The 1,800 bp SS restriction fragment
(C) Triplet repeat expansion
(E) The 800 bp XS restriction fragment
(D) Increased SNPs in the disease state
(E) Differences in restriction fragment length polymor-
4 You are studying a family that exhibits a rare autosomal
phisms (RFLPs)
recessive disease. The disease is caused by a point muta-
Questions 2 and 3 are based on the following diagram. Shown tion which abolishes an EcoR1 restriction site in the
below is a vector plus insert, with restriction endonuclease genome. To genotype the family, one can amplify a 1.8 kb

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