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  • 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.  

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.

 

 

 

 
 
 
 
 

Answers (1)

a) Phenylketonuria is caused due to mutation in the gene that codes for an enzyme phenylalanine hydroxylase. It is an autosomal recessive trait. The affected individual lacks an enzyme that converts the amino acid phenylalanine into tyrosine. As a result of this phenylalanine is accumulated and converted into phenyl pyruvic acid and other derivatives. Accumulation of these in the brain results in mental retardation. These are also excreted through urine because of its poor absorption by the kidney.

b) Klinefelter’s Syndrome - The genetic disorder is also caused due to the presence of an additional copy of X-chromosome resulting in a karyotype of 47, XXY. Such an individual has overall masculine development, however, the feminine development (development of breast, i.e., Gynaecomastia) is also expressed. Such individuals are sterile.

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Priyanka Kumari

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