1.

Name the kind of diseases/disorders and any two symptoms that are likely to occur in humans if: (a) Mutation in the gene that codes for an enzyme phenylalanine hydroxylase occurs. (b) The karyotype is XXY.

Answer» (a) Phenylalanine hydroxylase converts amino acid phenylalanine into another amino acid, tyrosine. It due to mutation, phenylalanine hydroxylase (PAH) does not form,
Phenylalanine `overset("PAH")rarr` Tyrosine
It leads to buildup of phenylalanine to toxic levels, a condition called phenylketonuria. The disease leads to mental disorders, seizures and intellectual disability.
(b) The karyotype XXY is present in a syndrome called Klinefelter syndrome. It results from two or more X-chromosome in males. Symptoms include weaker muscles, greater height,less body hair, breast growth poor coordination and infertility.


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