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Q.a) How phenylketonuria is an example for Pleiotropy?

(2)
b) Schematically represent the sex determination in honeybee. (3)
Karnataka PUCKarnataka II PUC Board 2025Subjective· 5mImportance★★★★★
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PKU shows pleiotropy because one mutated gene causes several effects; in honeybees, fertilised diploid eggs give females and unfertilised haploid eggs give males (haplodiploidy).

a) Phenylketonuria (PKU) as an example of Pleiotropy:

  • Pleiotropy is the phenomenon in which a single gene influences multiple phenotypic traits.
  • PKU is an inborn error of metabolism caused by mutation in a single gene that codes for the enzyme phenylalanine hydroxylase.
  • The defective enzyme cannot convert phenylalanine to tyrosine, so phenylalanine accumulates and is converted to phenylpyruvic acid and other derivatives.
  • These accumulate in the brain and are excreted in urine, producing several effects: mental retardation and reduced (low) hair and skin pigmentation.
  • Since one mutated gene produces multiple phenotypic effects, PKU is a classic example of pleiotropy.

b) Sex determination in honeybee (schematic representation):

Honeybees follow the haplodiploid (male-haploidy) mechanism:

                 Queen (diploid, 2n = 32)
                        |
         ---------------------------------
         |                               |
   Egg FERTILISED by sperm         Egg UNFERTILISED
   (diploid, 2n = 32)              (haploid, n = 16)
         |                               |
   Develops into FEMALE            Develops into MALE (Drone)
   (Queen / Worker)                by parthenogenesis
``` …

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