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Sequence No.

BIO-346

(i) Name the kind of diseases/disorders that are likely to occur in humans if :
(a) mutation in the gene that codes for an enzyme phenylalanine hydrolase occurs,
(b) there is an extra copy of chromosome 21.
(c) the karyotype is XXY.
(ii) Mention any one symptoms of the disease/disorders named above.
Or
Name the kind of diseases/disorders and any two symptoms that are likely to occur in human if:
(i) mutation in the gene that codes for an enzyme phenylalanine hydrolase occur.
(ii) the karyotype is XXY.
Answer:

(i) The following types of diseases are likely to occur in human :
(a) Phenyl ketonuria
(b) Down’s syndrome
(c) Klinefelter’s syndrome

 

(ii) Symptoms of above diseases are :
(a) Accumulation of phenylketonuria causes mental retardation.
(b) Down’s syndrome : Affected individuals are short statured with small round head.
(c) Klinefelter’s syndrome : The individuals are sterile.

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BIO-346

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