Question

3. Two siblings were investigated for the expression of gene D, which is important for muscle development. Child 1 is normal in appearance and activity, but child 2 has a muscle-related disease. Child 1 12 kb Xho digest of genomic DNA Southern blot Probe: "P gene D: Autoradiograms Northern blots (samples at different stages of development) 3 kb 3 kb Child 2 Southern blot Northern blots 8 kb 4 kb Xho digest of genomic DNA Age: Intensity scans of bands: 1 yr 2 yr 3 yr 4 yr (0.5) (1.0) (2.0) (2.0) Age: Intensity scans of bands: 1 yr 2 yr 3 yr 4 yr (0.5) (1.0) (2.0) (2.0) Enzyme samples Enzyme samples Stain for active enzyme Stain for active enzyme Age: 1 yr 2 yr 3 yr 4 yr Units of active enzyme: (20) (40) (60) (80) Age: 1 yr 2 yr 3 yr 4 yr Units of active enzyme: 0.1 0.1 0.1 0.1 a. Describe the results in terms of gene expression. (mRNA and protein) Compare results for child 1 to child 2 and indicate differences, if any. c. Outline how the Southern blot was done. b. Disease = mutant phenotype. Draw appropriate conclusions. Where in the gene is the mutation? What kind of mutation might it be? Explain your reasoning. d. Is each child homozygous or heterozygous at the gene D locus? Which result tells you? e. Draw two lines showing the difference between the wild type allele and the mutant allele of gene D. 3 kb

          3. Two siblings were investigated for the expression of gene D, which is important for muscle development. Child 1 is
normal in appearance and
activity, but child 2 has a muscle-related disease.
Child 1
12 kb
Xho
digest of
genomic
DNA
Southern blot
Probe: "P gene D: Autoradiograms
Northern blots
(samples at different
stages of development)
3 kb
3 kb
Child 2
Southern blot
Northern blots
8 kb
4 kb
Xho
digest of
genomic
DNA
Age:
Intensity scans of bands:
1 yr 2 yr 3 yr 4 yr
(0.5) (1.0) (2.0) (2.0)
Age:
Intensity scans of bands:
1 yr 2 yr 3 yr 4 yr
(0.5) (1.0) (2.0) (2.0)
Enzyme samples
Enzyme samples
Stain for active enzyme
Stain for active enzyme
Age: 1 yr 2 yr 3 yr 4 yr
Units of active enzyme: (20) (40) (60) (80)
Age: 1 yr 2 yr 3 yr 4 yr
Units of active enzyme: 0.1 0.1 0.1 0.1
a. Describe the results in terms of gene expression.
(mRNA and protein) Compare results for child 1 to
child 2 and indicate differences, if any.
c. Outline how the Southern blot was done.
b. Disease = mutant phenotype. Draw appropriate
conclusions. Where in the gene is the mutation? What
kind of mutation might it be? Explain your reasoning.
d. Is each child homozygous or heterozygous at the
gene D locus? Which result tells you?
e. Draw two lines showing the difference between the
wild type allele and the mutant allele of gene D.
3 kb

3. Two siblings were investigated for the expression of gene D, which is important for muscle development. Child 1 is
normal in appearance and
activity, but child 2 has a muscle-related disease.
Child 1
12 kb
Xho
digest of
genomic
DNA
Southern blot
Probe: "P gene D: Autoradiograms
Northern blots
(samples at different
stages of development)
3 kb
3 kb
Child 2
Southern blot
Northern blots
8 kb
4 kb
Xho
digest of
genomic
DNA
Age:
Intensity scans of bands:
1 yr 2 yr 3 yr 4 yr
(0.5) (1.0) (2.0) (2.0)
Age:
Intensity scans of bands:
1 yr 2 yr 3 yr 4 yr
(0.5) (1.0) (2.0) (2.0)
Enzyme samples
Enzyme samples
Stain for active enzyme
Stain for active enzyme
Age: 1 yr 2 yr 3 yr 4 yr
Units of active enzyme: (20) (40) (60) (80)
Age: 1 yr 2 yr 3 yr 4 yr
Units of active enzyme: 0.1 0.1 0.1 0.1
a. Describe the results in terms of gene expression.
(mRNA and protein) Compare results for child 1 to
child 2 and indicate differences, if any.
c. Outline how the Southern blot was done.
b. Disease = mutant phenotype. Draw appropriate
conclusions. Where in the gene is the mutation? What
kind of mutation might it be? Explain your reasoning.
d. Is each child homozygous or heterozygous at the
gene D locus? Which result tells you?
e. Draw two lines showing the difference between the
wild type allele and the mutant allele of gene D.
3 kb

Added by Monique J.

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