PKU 0.0 / 5 ? Human BiologyInheritance of human genetic diseasesA2/A-levelOCR Created by: manisha82Created on: 12-03-16 22:51 The mutated gene for PKU is on which chromosome? Chromosome 12 1 of 8 Which type of allele is PKU casued by? Autosomal recessive. Therefore, the individual must inherit two mutated form of genes. 2 of 8 What does the normal gene code for? Phenylalanine hydroxylase 3 of 8 What does phenylalanine hydroxylase do? Breaks down the amino acid phenylalanine into tyrosine 4 of 8 What happens as a result of the mutated gene? Phenylalanine can't be broken down by the enzyme phenylalanine hydroxylase. 5 of 8 Brain damage in children is a result of... Phenylalanine building up in the blood and tissue fluid. 6 of 8 What does PKU stand for? Phenylketonuria 7 of 8 How do doctors diagnose PKU? A heel ***** test on a baby. The blood is then checked in a lab for high levels of phenylalanine. 8 of 8
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