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Inborn errors of metabolism - class-X

Description: Inborn errors of metabolism
Number of Questions: 15
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Tags: genetics and evolution keeping diseases away bio-chemistry inborn errors of metabolism biology
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Select the correct match.

bio-chemistry inborn errors of metabolism haemophilia and colour blindness non infectious diseases keeping diseases away

  1. Sec-Limited trait: Colour blindness

  2. Sex-Limited trait: Express in both sex

  3. Sex-Influenced trait: More frequent in one sex than in the other

  4. Sex-influenced trait: Porcupine skin

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Correct Option: A

Haemophilia is?

bio-chemistry inborn errors of metabolism haemophilia and colour blindness non infectious diseases keeping diseases away

  1. Sex linked

  2. Sex limited

  3. Autosomal recessive

  4. Autosomal dominant

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Correct Option: A

Haemophilia is a?

bio-chemistry inborn errors of metabolism haemophilia and colour blindness non infectious diseases keeping diseases away

  1. X-linked dominant

  2. Autosomal dominant

  3. X-linked recessive

  4. Autosomal recessive

Show answer
Correct Option: A

A daughter will not normally be colourblind, unless her mother is ...... and her father is ....

bio-chemistry inborn errors of metabolism haemophilia and colour blindness non infectious diseases keeping diseases away

  1. Carrier, colour blind

  2. Colour blind, normal

  3. Colour blind, carrier

  4. Carrier, carrier

Show answer
Correct Option: A
Explanation:

Daughters inherit x chromosomes of father & mother respectively since one x chromosome masks the effect of another x chromosome, a daughter will only be colourblind if her mother is a carrier & father is colorblind.

So, the correct option is 'Carrier, colour blind'.

Select the incorrect statement from the following :

bio-chemistry inborn errors of metabolism haemophilia and colour blindness non infectious diseases keeping diseases away

  1. Baldness is a sex limited trait

  2. Linkage is an exception to the principle of independent assortment in heredity.

  3. Galactosemia is an inborn error of metabolism

  4. Small population size results in random genetic drift in a population

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Correct Option: A

If both parents are bald and their first female child is normal, then the chances of baldness in their second male child is?

bio-chemistry inborn errors of metabolism haemophilia and colour blindness non infectious diseases keeping diseases away

  1. $50$%

  2. $100$%

  3. $25$%

  4. $0$%

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Correct Option: B

The most common type of haemophilia is due to congenital absence of

bio-chemistry inborn errors of metabolism haemophilia and colour blindness non infectious diseases keeping diseases away

  1. Factor II

  2. Factor V

  3. Factor VIII

  4. Factor XI.

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Correct Option: C

The possibility of a female becoming haemophilic is extremely rare because the mother of such a female has to be at least (i) and father should be (ii). 

bio-chemistry inborn errors of metabolism haemophilia and colour blindness non infectious diseases keeping diseases away

  1. (i) Haemophilic, (ii) Carrier

  2. (i) Carrier, (ii) Haemophilic

  3. (i) Haemophilic, (ii) Normal

  4. (i) Haemophilic, (ii) Haemophilic

Show answer
Correct Option: B
Explanation:

  • Haemophilia is genetically due to the presence of a $recessive$ sex-linked gene h, carried by the X chromosome. 
  • A female becomes haemophilic only when both Its X chromosomes carry the gene $(XhXh)$. However, such females (mothers) generally die before birth because the combination of these two recessive alleles is lethal. A female having only one allele for haemophilia $(XX^h)$ appears normal because of the allele for normal blood clotting present on the other X-chromosome is dominant. Such females are known as carriers. 
  • In the case of males, a single gene for the defect is able to express itself as the Y-chromosome is devoid of any corresponding allele $(Xh^Y)$.
  • Thus, the possibility of a human female becoming haemophilic is extremely rare because she has to be homozygous recessive for the trait, i.e., her father must be a haemophilic and mother must be at least a carrier.

Which one of the following is a genetically transmitted character?

bio-chemistry inborn errors of metabolism haemophilia and colour blindness non infectious diseases keeping diseases away

  1. Colourblindness

  2. Hydrocephalus

  3. Haemophilia

  4. Muscular dystrophy

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Correct Option: A

Correct pathway for synthesis of skin pigment is?

bio-chemistry inborn errors of metabolism haemophilia and colour blindness non infectious diseases keeping diseases away

  1. Tyrosine - dopa - melanin - dopaquinone

  2. Tyrosine - dopaquinone - dopa - melanin

  3. Dopa - tyrosine - dopaquinone - melanin

  4. Tyrosine - dopa - dopaquinone - melanin

  5. Tyrosine - melanin - dopaquinone - dopa.

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Correct Option: D

Melanin is found in.

bio-chemistry inborn errors of metabolism haemophilia and colour blindness non infectious diseases keeping diseases away

  1. Whole skin

  2. Stratum spongiosum

  3. Stratum corneum

  4. Stratum germinativum

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Correct Option: D

Mental retardation in children suffering from galactosemia can be avoided by

bio-chemistry inborn errors of metabolism haemophilia and colour blindness non infectious diseases keeping diseases away

  1. Giving them more milk

  2. Giving them milk free diet

  3. Giving them milk fortified with vitamins

  4. Giving them more proteinous diet

Show answer
Correct Option: B

Pigmentation of skin is due to.

bio-chemistry inborn errors of metabolism haemophilia and colour blindness non infectious diseases keeping diseases away

  1. Melanocytes

  2. Leucocytes

  3. Lymphocytes

  4. Monocytes

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Correct Option: A

Molecular probes are used for many genetic disorders like?

bio-chemistry inborn errors of metabolism haemophilia and colour blindness non infectious diseases keeping diseases away

  1. Duchenne muscular dystrophy

  2. Cystic fibrosis

  3. Tay-Sachs disease

  4. All of these

Show answer
Correct Option: A

Mark the correct statement.

bio-chemistry inborn errors of metabolism haemophilia and colour blindness non infectious diseases keeping diseases away

  1. In lower one third part of oesophagus both Myenteric and Meissner's plexus are absent

  2. Carboxypeptidase is exopeptidase acting on 'N' terminal end of peptide chain

  3. Galactosemia is metabolic genetic disorder due to deficiency of the enzyme uridyl transferase

  4. Nucleotidase and nucleosidase enzymes are present in pancreatic juice

Show answer
Correct Option: C
Explanation:
  • Here, option (C) is correct as Galactosemia is metabolic genetic metabolic disorder due to deficiency of the enzyme uridyl transferase.
  • While, carboxypeptidase is a protease enzyme that acts on 'C' terminal end of a protien or peptide.
  • And, in pancreatic juice trypsin, amylase and lipase are present.
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