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 |
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 |
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 |
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 |