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  1. Problems
  2. /A woman is healthy. Her parents are healthy, and her brother has an autosomal recessive condition…
AdvancedBiologyHigh School (11–12)Heredity and Evolution › Principles of Inheritance and VariationNumericalOlympiad

A woman is healthy. Her parents are healthy, and her brother has an autosomal recessive condition…

StemPy LabContributed by StemPy Lab

Try it on paper first. A hint, the key idea and the worked solution are here when you need them.

A woman is healthy. Her parents are healthy, and her brother has an autosomal recessive condition. The condition is rare: in the population the frequency of the recessive allele is 160\tfrac{1}{60}601​, and mating is random. The woman marries a healthy man with no family history, who is chosen at random from the healthy men of the population. Take the genotypes of the parents of the woman as Aa×AaAa \times AaAa×Aa and the man as unrelated to her.

  1. What is the probability that the woman is a carrier?
  2. What is the probability that the man is a carrier?
  3. How many affected children are expected in every 100001000010000 first children of such couples?
  4. The couple's first two children are healthy. What is now the probability that both parents are carriers?
  5. How many affected children are expected in every 100001000010000 third children of couples whose first two children are healthy?

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children
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The worked solution

Have you tried it?

Work it out on paper first. It is fine to get stuck or make a mistake: that is how we learn. When you are ready, go through the solution one step at a time, and check each step against your own.

Plan. Find the chance each parent is a carrier. Then update the chance that both are carriers after the children are seen.

(a) The woman is AAAAAA, AaAaAa or AaAaAa with weights 1:21 : 21:2 among the three healthy outcomes of Aa×AaAa \times AaAa×Aa (the fourth, aaaaaa, is ruled out). So P(carrier)=23=0.6667P(\text{carrier}) = \tfrac{2}{3} = 0.6667P(carrier)=32​=0.6667.

(b) 2q/(1+q)=(2/60)/(61/60)=261=0.03282q / (1 + q) = (2/60) / (61/60) = \tfrac{2}{61} = 0.03282q/(1+q)=(2/60)/(61/60)=612​=0.0328.

(c) Both must be carriers, probability 0.6667×0.0328=0.02190.6667 \times 0.0328 = 0.02190.6667×0.0328=0.0219, and then 14\tfrac{1}{4}41​ of children are affected. That is 54.6454.6454.64 in 100001000010000.

(d) If both are carriers, a child is healthy with probability 34\tfrac{3}{4}43​, so two healthy children have probability 0.56250.56250.5625. In every other state the children are surely healthy (probability 111). By Bayes' rule, P(both carriers)=0.0219×0.5625/(0.0219×0.5625+1−0.0219)=0.0124P(\text{both carriers}) = 0.0219 \times 0.5625 / (0.0219 \times 0.5625 + 1 - 0.0219) = 0.0124P(both carriers)=0.0219×0.5625/(0.0219×0.5625+1−0.0219)=0.0124.

(e) The third child is affected only if both are carriers and then with probability 14\tfrac{1}{4}41​: 0.0124/40.0124 / 40.0124/4, which is 31.0331.0331.03 in 100001000010000. It is lower than the first child's 54.6454.6454.64 because two healthy children are some evidence that the parents are not both carriers.

Check. Listing the four genotype combinations of the parents with their weights, and the chance of healthy, healthy, affected children in each, then dividing by the chance of healthy, healthy, gives the same 31.0331.0331.03 in 100001000010000 with exact fractions.

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