- 1(current)
Q. No.Identify the incorrectly matched pair regarding the Mendelian disorders:
| 1. | Sickle cell anemia: a single base substitution at the sixth codon of the beta-globin gene |
| 2. | Phenylketonuria: an inborn error of metabolism due to the lack of an enzyme that converts tyrosine to phenylalanine |
| 3. | Beta thalassemia: the gene involved is a single gene located on chromosome 11 |
| 4. | Hemophilia: a sex-linked recessive trait extremely rare in females |
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Consider the following statements:
| I: | People affected by phenylketonuria are unable to convert tyrosine to phenylalanine. |
| II: | Alzheimer’s disease results from the accumulation of amyloid protein plaques in the brain. |
| III: | Klinefelter’s and Turner’s syndromes are the result of nondisjunction of the sex chromosomes in either of the sexes. |
Which of the above statements are true?
| 1. | I and II only | 2. | I and III only |
| 3. | II and III only | 4. | I, II, and III |
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Identify the correct statement regarding phenylketonuria:
| 1. | The affected individual is unable to convert tyrosine to phenylalanine |
| 2. | It is inherited as an X-linked recessive trait |
| 3. | Phenylalanine accumulates in the brain and is excreted in urine |
| 4. | It is an inborn error of metabolism |
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Match the disorder in Column I with the location of the gene causing it in Column II and select the correct option from the codes given:
|
|
COLUMN I |
|
COLUMN II |
|
A. |
Sickle cell anaemia |
a. |
Chromosome 11 |
|
B. |
Phenylketonuria |
b. |
Chromosome 12 |
|
C. |
Cystic fibrosis |
c. |
Chromosome 7 |
|
D. |
Huntington’s disease |
d. |
Chromosome 4 |
Codes:
| A | B | C | D | |
| 1. | a | b | c | d |
| 2. | b | a | c | d |
| 3. | a | b | d | c |
| 4. | b | a | d | c |
Identify an autosomal recessive inborn error of metabolism the effects of which can be completely overcome by regulating the diet of the affected individual:
| 1. | Cystic fibrosis | 2. | Huntington’s chorea |
| 3. | Albinism | 4. | Phenylketonuria |
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Given below [A – E] are suggested causes for the genetic diseases. Select the cause as your answer for the given disease.
| A. | A single nucleotide mutation results in a polar amino acid being substituted by a non-polar amino acid in the polypeptide. |
| B. | Autosomal recessive inborn error of metabolism where mutation renders a key enzyme involved in amino acid metabolism non-functional. |
| C. | X-linked recessive condition is more common in males than in females. |
| D. | Caused by a primary autosomal non-disjunction event. |
| E. | Caused by a non-disjunction event in sex chromosomes in either of the sexes. |
Red-green colour blindness:
| 1. | A | 2. | B |
| 3. | C | 4. | D |
Given below [A – E] are suggested causes for the genetic diseases. Select the cause as your answer for the given disease.
| A. | A single nucleotide mutation results in a polar amino acid being substituted by a non-polar amino acid in the polypeptide. |
| B. | Autosomal recessive inborn error of metabolism where mutation renders a key enzyme involved in amino acid metabolism non-functional. |
| C. | X-linked recessive condition is more common in males than in females. |
| D. | Caused by a primary autosomal non-disjunction event. |
| E. | Caused by a non-disjunction event in sex chromosomes in either of the sexes. |
Phenylketonuria:
| 1. | A | 2. | B |
| 3. | C | 4. | D |
- 1(current)
Q. No.
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