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
Subtopic:  Mendelian Disorders |
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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
Subtopic:  Mendelian Disorders | Non - Disjunction & Aneuploidy |
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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
Subtopic:  Mendelian Disorders |
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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
Subtopic:  Mendelian Disorders |
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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 fibrosis2.Huntington’s chorea
3.Albinism4.Phenylketonuria

Subtopic:  Mendelian Disorders |
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