Single Choice

Which of the following disorders are caused due to recessive autosomal mutations?

ATurner's syndrome and sickle cell anaemia
BEdward's syndrome and Down's syndrome
CCystic fibrosis and phenylketonuria
Correct Answer
DAlzheimer's disease and Huntington's chorea.

Solution

A. Turner syndrome is produced by the union of an abnormal O egg and a normal X sperm or a normal egg and an abnormal O sperm. The individual has 45 chromosomes (44 + X) instead of 46.
Sickle cell anaemia is caused by a defective allele on chromosome 11. In homozygous condition, the disorder kills the individual. In heterozygous conditions, it leads to haemolytic anaemia under conditions of oxygen 60-70% deficiency.
B. Edward syndrome is caused due to the presence of an extra chromosome number 18.
Down's syndrome is caused due to the presence of an extra chromosome number 21.
C. Cystic fibrosis is a recessive autosomal disorder which arises due to the alleles present on chromosome 7.
Phenylketonuria is an autosomal recessive disorder in which the homozygous recessive individual lacks the enzyme phenylalanine hydroxylase.
D. Alzheimer's disease is a neurodegenerative disorder caused by the accumulation of amyloid protein plaques in the brain resulting in the degeneration of neurons.
Huntington's disease is an autosomal dominant disorder due to an allele on the short arm of chromosome 4.
Hence, disorders caused due to recessive autosomal mutations are Cystic fibrosis and Phenylketonuria. So, the correct answer is 'Cystic fibrosis and phenylketonuria'.


SIMILAR QUESTIONS

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Thalassemia and sickle cell anemia are caused due to a problem in globin molecule synthesis. Select the correct statement.

Genetics

If both parents are carriers for thalassemia, which is an autosomal recessive disorder, what are the chances of pregnancy resulting in an affected child?

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If both parents are carriers for thalassaemia, which is an autosomal recessive disorder, what are the chances of pregnancy resulting in an affected child?

Genetics

Choose the correct answer from the alternatives given. Match column I with column II and select the correct option from the given codes. Column I Column II A. Sickle cell anaemia (i) 7th chromosome B. Phenylketonuria (ii) 4th chromosome C. Cystic fibrosis (iii) 11th chromosome D. Huntingtons disease (iv) X - chromosome E. Colourblindness (v) 12th chromosome

Genetics

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Genetics

The disease sickle-cell anaemia is caused by the substitution of (i) by (ii) at the (iii) position of (iv) globin chain of haemoglobin molecule. Which of the, following correctly fills the blanks in the above statement?

Genetics

In sickle cell anaemia glutamic acid is replaced by valine. Which one of the following triplets codes for valine?

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