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प्रश्न
Give one example of point mutation.
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उत्तर
When heritable changes occur in a very short region of the DNA molecule, such as a single nucleotide or nucleotide pair, these are referred to as point mutations. Inversion, substitution (transition and transversion), or frameshift (insertion and deletion) nucleotide changes in DNA or RNA can cause point mutations. Phenylketonuria (PKU; Polling 1934) is a genetic condition that a person is born with, where someone with two copies of the gene does not have the enzyme phenylalanine hydroxylase. The liver requires this enzyme to convert phenylalanine, an amino acid, into tyrosine, another amino acid. It causes hyperphenylalaninemia, which is marked by the accumulation and excretion of phenylalanine, phenylpyruvic acid, and other substances. A defective autosomal recessive gene on chromosome 12 is the cause of the enzyme lack. This gene is faulty as a result of replacement. Affected children are normal at birth, but within a few weeks, plasma phenylalanine levels spike (30-50 times), impairing brain development. Other signs include mental impairment, reduced pigmentation in the hair and skin, and eczema.
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संबंधित 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?
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.
Why did the treatment provided to girl A required repeated visits?
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.
How was the girl B cured permanently?
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 |
Assertion (A): Gamma rays are generally used to induce mutation in wheat varieties.
Reason (R): Because they carry lower energy to non-ionize electrons from atom
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
How sex is determined in monoecious plants. write their genes involved in it.
Haploid plants are preferred over diploids for mutation study because in haploids ______.
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?
Rate of mutation is affected by ______.
Which one of the following is a sort of chromosomal aberration?
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 ______
A strong mutagen is:
How are alleles of particular gene differ from each other? Explain its significance.
Variations caused due to mutations are ______.
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 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 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 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 |
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 |
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 |
