Artificial intelligent assistant

Assessing carrier Risk susan has been found to be a carrier of Tay Sachs. what is the risk that her maternal aunt is also a carrier if we don't know her parents status?

First you have to know that Tay–Sachs disease is an autosomal recessive genetic disorder. Below we will assume that the mutation is at low frequency in the population.

**Probability that Susan's maternal grandparents carry the mutation**

The probability that Susan's mother carry the mutation is $\frac{1}{2}$. The probability that the mutation is present the Susan's maternal grandparents is therefore also $\frac{1}{2}$.

**Probability that Susan's aunt received the mutation if her parents where carrying it**

Now, if the mutation is present in Susan's maternal grandparents in a single copy (which is a consequence of the assumption of the mutation being at low frequency in the population), then the probability that the sister of Susan's mother received this allele is $\frac{1}{2}$ too.

**Putting these two probabilities together**

Putting these together. $\frac{1}{2} \frac{1}{2} = \frac{1}{4}$. The probability is $\frac{1}{4}$.

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