Advertisements
Advertisements
प्रश्न
Answer the following question.
Two children, A and B aged 4 and 5 years respectively visited a hospital with a similar genetic disorder. The girl A was provided enzyme-replacement therapy and was advised to revisit periodically for further treatment. The girl, B was, however, given a therapy that did not require revisit for further treatment.
Name the ailments the two girls were suffering from?
Advertisements
उत्तर
ADA (adenosine deaminase) deficiency is a form of SCID (severe combined immunodeficiency)- a type of disorder that affects the immune system. The disease is caused by a mutation in a gene on chromosome 20. The gene codes for the enzyme adenosine deaminase (ADA). Without this enzyme, the body is unable to break down a toxic substance called deoxyadenosine. The toxin builds up and destroys infection-fighting immune cells called T and B lymphocytes.
संबंधित प्रश्न
Give one example of point mutation.
Match List I with List II.
| List I | List II | ||
| A. | A pair of chromosomes extra with diploid | i) | monosomy |
| B. | One chromosome extra to the diploid | ii) | tetrasomy |
| C. | One chromosome loses from diploid | iii) | trisomy |
| D. | Two individual chromosomes lose from diploid | iv) | double monosomy |
What is the difference between missense and nonsense mutation?
Draw the diagram of different types of aneuploidy.
The point mutation sequence for transition, transition, transversion, and transversion in DNA are
Albinism is known to be due to an autosomal recessive mutation. The first child of a couple with normal skin pigmentation was an albino. What is the probability that their second child will also be an albino?
Which one of the following is a sort of chromosomal aberration?
Match list I with list II
| List I | List II |
| A. A pair of chromosomes extra with diploid | (i) monosomy |
| B. One chromosome extra to the diploid | (ii) tetrasomy |
| C. One chromosome loses from diploid | (iii) trisomy |
| D. Two individual chromosomes lose from diploid | (iv) double monosomy |
Match list I with list II.
| List I | List II | ||
| A. | A pair of chromosomes extra with diploid | i) | monosomy |
| B. | One chromosome extra to the diploid | ii) | tetrasomy |
| C. | One chromosome loses from diploid | iii) | trisomy |
| D. | Two individual chromosomes lose from diploid | iv) | double monosomy |
Match list I with list II
| List I | List II | ||
| A. | A pair of chromosomes extra with diploid | i) | monosomy |
| B. | One chromosome extra to the diploid | ii) | tetrasomy |
| C. | One chromosome loses from diploid | iii) | trisomy |
| D. | Two individual chromosomes lose from diploid | iv) | double monosomy |
