Menkes disease in humans is caused by a mutation in a copper-transport protein that is coded for by an X-linked gene. Individuals with the recessive form of this mutant gene MNK have a copper deficiency which results in kinky hair, growth failure and nervous system deterioration. Carl has Menkes disease, but his parents both have normal copper transport. In his family history, he knows that his grandfather and uncle on his mother’s side both had Menkes disease. None of his female relatives are known to have Menkes disease. (a) What is Carl’s mother’s genotype? (b) What is Carl’s father’s genotype? (c) What is Carl’s genotype? (d) Carl’s sister is normal for copper transport. What is the chance that she is a carrier?(Show your work using a Punnett Square) (e) If Carl marries Felicia, who has normal copper transport. Felicia’s mother is not a MNK carrier but her father has Menkes disease. What are the expected phenotypic and genotypic ratios of their children (state your answers as percentages of sons and daughters)? (Show your work using a Punnett Square)
Menkes disease in humans is caused by a mutation in a copper-transport protein that is coded for by an X-linked gene. Individuals with the recessive form of this mutant gene MNK have a copper deficiency which results in kinky hair, growth failure and nervous system deterioration. Carl has Menkes disease, but his parents both have normal copper transport. In his family history, he knows that his grandfather and uncle on his mother’s side both had Menkes disease. None of his female relatives are known to have Menkes disease.
(a) What is Carl’s mother’s genotype?
(b) What is Carl’s father’s genotype?
(c) What is Carl’s genotype?
(d) Carl’s sister is normal for copper transport. What is the chance that
she is a carrier?
(Show your work using a Punnett Square)
(e) If Carl marries Felicia, who has normal copper transport. Felicia’s mother is not a MNK carrier but her father has Menkes disease. What are the expected
(Show your work using a Punnett Square)
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