A genetics counselor, Nashaly Montez, notices an odd pattern in Devin’s pedigree, a propensity for cancer development in his family at a higher incidence in males compared to females. This suggests to Nashaly an X-linked recessive disorder that is not manifesting in females as frequently compared to males who only have one X chromosome. She brings this to the attention of Devin’s primary health care provider who has his client checked for common cancer-causing mutations. A mutant LOF Fox3 regulatory allele is found that has an early NONSENSE codon that prevents protein expression. This is unfortunate, since in its wildtype form the protein is normally tumor-suppressing.

Biology Today and Tomorrow without Physiology (MindTap Course List)
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Chapter9: Patterns Of Inheritance
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genetics counselor, Nashaly Montez, notices an odd pattern in Devin’s pedigree, a propensity for cancer development in his family at a higher incidence in males compared to females. This suggests to Nashaly an X-linked recessive disorder that is not manifesting in females as frequently compared to males who only have one X chromosome. She brings this to the attention of Devin’s primary health care provider who has his client checked for common cancer-causing mutations. A mutant LOF Fox3 regulatory allele is found that has an early NONSENSE codon that prevents protein expression. This is unfortunate, since in its wildtype form the protein is normally tumor-suppressing.

 

1) 

If Devin’s mother is a carrier of the mutant LOF Fox3 gene, what is the likelihood he will inherit the defective X responsible for the condition.
 
a
100% since he only inherits one X from his mother.
b
25% due to the typical 3:1 ratio that manifests in recessive disorders.
c
0% since he is a male so has Y chromosomes.
d
50% since his heterozygous mother could donate either one of her X’s to him during fertilization.
 
2) 
A lab technician is using his computer to toggle back and forth between two gDNA chromatograms, one from an unidentified bacterium, and the other of Devin’s Fox3 gene. The computer crashes! When he restarts it, he realizes the names have been erased from both the files he was looking at! Fearing he’ll lose his job, he wonders if he can distinguish which chromatogram belonged to the bacterium and which belonged to Devin?
 
a
JOB LOST! You need to start looking at the Help Wanted adverts, bro’!
b
JOB SAVED! The sequences come from two different Domains so look for distinguishing motifs: the bacterium should have GACA, TATAAT, and a Shine-Dalgarno motif, and it would be shorter and have no large intronic sequences whereas Devin’s longer sequence will have a CAAT box, TATA, and a Kozak motif.
c
JOB LOST! The motifs that would be able to distinguish a bacterial sequence from a human sequence are found in the promoter region, which will not be found in gDNA.
d
JOB SAVED! The bacterial gDNA will be significantly longer then Devin’s human sequence, which will have the introns spliced out of it.
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