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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?
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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
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?
A change of single base pair in the gene for beta-globin chain (in human haemoglobin) results in the change of amino acid residue glutamic acid to valine which is due to ______
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 was lost 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 a diploid | iii) Trisomy |
| D. Two individual chromosomes lose their diploid | iv) Double chromosome |
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 |
Which type of mutation shifts the reading frame of all downstream codons?
What mechanism causes a frameshift mutation?
Which of the following is caused by intrinsic replication errors and tautomeric shifts?
What is the distinction between a deletion and an insertion in terms of chromosomal aberrations?
