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Albinism : Genetic Mendelian Abnormality

Albinism

Like Alkaptonuria, Phenylketonuria and Sickle cell anaemia, it is also a genic Mendelian abnormality caused by the presence of a homozygous recessive gene. Melanin Pigment is not found in the person suffering from such disorder. Because of this, the hair, iris and skin of the afflicted person all become colourless. This disorder is called Albinism.

Albinism

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Cause of Albinism

  • This is also a Genetic Mendelian Abnormality.
  • It also appears due to recessive genes.
  • In normal condition, tyrosine amino acid formed in the metabolism of Phenylalanine is formed in the presence of necessary enzymes to form Dihydroxyphenylalanine (DOPA), which is converted into Melanin Pigment.
  • In abnormal condition, the enzyme that produces Dihydroxyphenylalanine (DOPA) from Tyrosine Amino Acid is not formed. It is caused by recessive genes. Due to non-production of essential enzymes, Melanin Pigment is also not produced and the organs of the person remain colourless. This colorless condition is called albinism.

Inheritance of Albinism

Inheritance of albinism also generally follows Mendel's Law. Its inheritance can be understood by the following type of example according to the condition of the gametes –

Example – 01

When an Albino woman marries a normal man, her offspring are heterozygous carriers, that is, they do not show the trait of Albinism.

Example – 02

When a heterozygous woman and a man, who are carriers of normal pigment, marry each other, some of their children are albinism, some children are normal, that is, albinism is not found in them, and some children They are normal but they are carriers of albinism. 

Inheritance of Sex Linked Genes
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