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Question

Which one of the following is an autosomal recessive disease?

The correct answer is
Cystic fibrosis

Autosomal Recessive Disease Identification

An autosomal recessive disease requires an individual to inherit two copies of a mutated gene, one from each parent, located on an autosome (a non-sex chromosome). Having only one mutated copy makes the individual a carrier.

Disease Inheritance Patterns

Let's examine the inheritance pattern for each condition:

  • Cystic fibrosis: This condition is caused by mutations in the CFTR gene and follows an autosomal recessive pattern. Affected individuals have two mutated copies of the gene.
  • Neurofibromatosis: This is typically an autosomal dominant disorder, meaning only one copy of the mutated gene is sufficient to cause the condition.
  • Retinitis pigmentosa: This condition has varied inheritance patterns. While it *can* be autosomal recessive, it also occurs as autosomal dominant and X-linked forms.
  • Vitamin D resistant rickets: The most common form, X-linked hypophosphatemia, is inherited in an X-linked dominant pattern.

Conclusion on Genetic Disorders

Based on the typical inheritance patterns, Cystic fibrosis is the classic example of an autosomal recessive disease among the choices provided.

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Important Questions from Genetic Disorders & Public Health

  1. Which one of the following conditions is NOT inborn error of metabolism?
  2. Amniocentesis is called for in all of the following circumstances EXCEPT:
  3. Consider the following pairs of genetic diseases that show Mendelian inheritance. Each of the following pairs represents a genetic disease and it has been matched with a type of inheritance :
    1Cystic fibrosisAutosomal recessive
    2Huntington's choreaAutosomal dominant
    3Marfan's syndromeRecessive sex-linked
    How many of the pairs given above are correctly matched?
  4. Consider the following statements : 

    Statement I: 

    Signs of thalassemia major usually develop after 6 months of age. 

    Statement II: 

    This is the time when haemoglobin synthesis switches from haemo-globin F to haemoglobin A.

     Which one of the following is correct in respect of the above statements?

  5. Cystic fibrosis involves which of the following organs?
    1. Lungs
    2. Liver
    3. Pancreas
    4. Kidney

    Select the correct answer using the code given below.
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