Questions
Q1.
Alkaptonuria is an inherited condition caused by the presence of recessive alleles.
(a) State what is meant by a recessive allele.
(1)
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(b) Alkaptonuria is first diagnosed in children when it is noticed that they produce very dark
urine that turns black when exposed to air.
A woman and a man do not have alkaptonuria. They have a child who has the condition.
The woman and the man are expecting a second child.
(i) Draw a genetic diagram to show the genotypes of the woman and the man, the gametes they
produce and the possible phenotypes and genotypes of the second child.
(4)
(ii) Calculate the probability that the second child is male and does not have the condition.
(1)
probability = ...........................................................
(c) Alkaptonuria is caused by the body being unable to break down the amino acids tyrosine and
phenylalanine.
This leads to a build-up of a toxin that causes damage to joints and tendons and can also lead to
heart valve damage in later life.
A new drug treatment is being tested that can slow the damage to the joints and tendons.
Scientists selected 40 adults who all had alkaptonuria. They placed each patient into one of two
groups. One group was given the drug treatment and the other group acted as a control.
The scientists then compared the symptoms of the patients in each group after three years.
(i) Describe what is meant by the control group.
(1)
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(ii) The table compares the control group with the drug treatment group.
It shows the numbers starting and completing the trial and those showing harmful effects.
It also compares improvements in two symptoms of alkaptonuria.
Evaluate whether the new drug should be recommended as an effective treatment for
alkaptonuria.
(5)
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(d) Other scientists have suggested that eating fewer proteins that contain tyrosine and
phenylalanine would reduce the symptoms of alkaptonuria.
Suggest why eating fewer of these proteins may be difficult.
(2)
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(Total for question = 14 marks)
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