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Reproduction In Organisms

Question
CBSEENBI12003443

Which of the following disorders are caused due to recessive autosomal mutations?

  • Turner"s syndrome and sickle cell anaemia

  • Edward's syndrome and Down's syndrome

  • Cystic fibrosis and phenylketonuria

  • Alzheimer's disease and Huntington's chorea

Solution

C.

Cystic fibrosis and phenylketonuria

Gene related human disorders are determined by mutations in single gene. The pattern of inheritance of Mendelian disorders can be traced in a family by Pedigree analysis.

Cystic Fibrosis is an abnormal recessive disorder of infants, children and young adults. It occurs due to an abnormal recessive autosomal allele present on chromosome 7. Presence of fibrous cysts in pancreas. It produces a defective glycoprotein that causes formation of thick mucus in skin, lungs, pancreas and other secretory organs.

Phenylketonuria is an inborn, autosomal, recessive metabolic disorder in which homozygous recessive individual lacks the enzyme phenylalanine hydroxylase needed to change phenylalanine to tyrosine in liver. Lack of this enzyme is due to the abnormal autosomal recessive gene on chromosome 12.