Lay out the genetics of Nicholas’s case, including where the mutationoccurred, what exact nucleotide defect was present, why this was aserious type of defect, and why he was so affected by the mutationbut his mother was not.

Human Heredity: Principles and Issues (MindTap Course List)
11th Edition
ISBN:9781305251052
Author:Michael Cummings
Publisher:Michael Cummings
Chapter4: Pedigree Analysis In Human Genetics
Section4.7: Non-mendelian Inheritance: Maternal Mitochondrial Genes
Problem 2EG: Which members of the pedigree could have been carriers, and which might have been the source of the...
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Lay out the genetics of Nicholas’s case, including where the mutation
occurred, what exact nucleotide defect was present, why this was a
serious type of defect, and why he was so affected by the mutation
but his mother was not.

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Step 1

Nicholas was a 2 year-old boy with an extreme case of inflammatory bowel disease and susceptibility to infections. After continued deterioration of his lower intestine, his colon had to be removed. He was suspected to be suffering from a genetic disease, and his DNA was analyzed to find out which mutation was causing his condition.

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