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Principles of Inheritance and Variation

Long Answer Type

61. Define mutation. Illustrate the types of mutation that can arise by change in chromosome structure.

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Short Answer Type

62.

Name the types of chromosomal disorders .

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63. What is aneuploidy ? Give an example.

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Long Answer Type

64.

What is point mutation? Give one example.

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Short Answer Type

65. What are mutagens.

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66. Name a few Chromosomal disorders in human.

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Long Answer Type

67. Mention any two autosomal genetic disorders with their symptoms.

1. Down’s syndrome: It is a case of autosomal aneuploidy which arises due to gain of a copy of 21st chromosome. Symptoms in Down's Syndrome is short statured with small round head, furrowed tongue and partially open mouth. Palm is broad with characteristic palm creases. Physical, psychomotor and mental development is retarded.

2. Phenylketonuria: It is an autosomal recessive disorder characterised by absence of the enzyme which converts phenylalanine into tyrosine . The person shows mental retardation because of the accumulation of phenylalanine and converted into phenylpyruvic acid and other derivatives which are passed out in urine. Kidney also shows poor absorption.

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