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Question :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»

Solution :(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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