## Related questions with answers

Like Hurler syndrome, Fabry disease involves an abnormal accumulation of substances within lysosomes. However, the lysosomes of individuals with Fabry disease show an abnormal accumulation of lipids. The defective enzyme is $\alpha$-galactosidase $A$, which is a lysosomal enzyme that functions in lipid metabolism. This defect causes cell damage, especially to the kidneys, heart, and eyes. The gene that encodes a-galactosidase $\mathrm{A}$ is found on the $\mathrm{X}$ chromosome. Let's suppose a phenotypically unaffected couple produces two sons with Fabry disease and one phenotypically unaffected daughter. What is the probability that the daughter will have an affected son?

Solution

VerifiedThe parents are not phenotypically affected but their two sons have the disease, while the daughter does not have the disease, which means that the disease is inherited X-linked recessive.

$P: X^{F}X^{f} \times X^{F} Y$

$F_{1}: X^{F}X^{F},X^{F}X^{f}, X^{F}Y, X^{f}Y \Rightarrow \dfrac{3}{4}$ are healthy genotypes and $\dfrac{1}{4}$ have a disease.

The probability that the daughter will be the carrier of the trait is $\dfrac{1}{2}$

The probability that the daughter's son will have the disease:

$P=\dfrac{1}{2}\times\dfrac{1}{4}=\dfrac{1}{8}$

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