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प्रश्न
Give an example of a human disorder that is caused due to a single gene mutation.
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उत्तर
Sickle-cell anaemia is a human genetic disorder caused by a single gene mutation. In sickle-cell anaemia, glutamic acid (Glu) at the 6th position of beta globin chain (of haemoglobin molecule) is replaced by valine (Val).
संबंधित प्रश्न
What will be the phenotype of progeny, if a carrier haemophilic female marries a normal male?
A child suffering from Thalassemia is born to a normal couple. But the mother is being blamed by the family for delivering a sick baby.
- What is Thalassemia?
- How would you counsel the family not to blame the mother for delivering a child suffering from this disease? Explain.
- List the values your counselling can propagate in the families.
Why is pedigree analysis done in the study of human genetics? State the conclusions that can be drawn from it.
Which of the following traits is never observed in a human female?
Identify the INCORRECT statement.
If a genetic disease is transferred from a phenotypically normal but carrier female to only some of the male progeny, the disease is ______.
A disease caused by an autosomal primary non-disjunction is ______.
Females with Turner’s syndrome have ______.
If a father and son are both defective in red-green colour vision, is it likely that the son inherited the trait from his father? Comment.
Jacob is genetically a carrier of the disorder that affects the shape of the RBCs, as shown in the diagram below. His son James suffers from the same disorder.

- Give the biochemical reason for the disorder that changes the shape of the RBCs, as shown above.
- Draw a Punnett square to show the genotype of the mother of James.
- Name and define the type of 'point mutation' responsible for this disorder.
