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Pathology

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Genetics

Question
6 out of 18
 

A defect in the enzyme adenosine deaminase (ADA) shows which inheritance? (AIIMS Nov 2014)



A Autosomal recessive
B Autosomal dominant

C X-linked recessive
D Mitochondrial

Ans. A Autosomal recessive

A defect in the enzyme adenosine deaminase (ADA) is seen in the autosomal recessive form of severe combined immunodeficiency disease (SCID), while a defect in the IL-2 receptor is seen in the X-linked recessive form of SCID.

A developmental defect at the pre-B stage is seen in X-linked agammaglobulinemia of Bruton, while developmental failure of pharyngeal pouches 3 and 4 is characteristic of DiGeorges syndrome.

Genetics Flashcard List

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