Autosomal Genetic Disorders & Symptoms — NEET Biology
📚 Practice ConceptMention any two autosomal genetic disorders with their symptoms.
Match the following genetic disorders or mutation types with their characteristic features as described in NCERT: Column I (Genetic Concept) A. Haemophilia B. Sickle-cell anaemia C. Phenylketonuria D. Down’s Syndrome E. Frame-shift mutation Column II (Characteristic Feature) I. Caused by deletion or insertion of base pairs of DNA II. Results from trisomy of chromosome 21 III. X-linked recessive disorder where blood clotting is affected IV. Due to substitution of Glutamic acid by Valine at the sixth position of beta globin chain V. Autosomal recessive trait leading to accumulation of phenylpyruvic acid
View solution & NCERT explanation
Correct answer: D — A-III, B-IV, C-V, D-II, E-I
Let's match each item from Column I to its correct characteristic feature in Column II: A. Haemophilia: This is described as a sex-linked recessive disease where a single protein involved in blood clotting is affected. (NCERT, Section 4.8.2) So, A-III. B. Sickle-cell anaemia: This defect is caused by the substitution of Glutamic acid (Glu) by Valine (Val) at the sixth position of the beta globin chain of the haemoglobin molecule. (NCERT, Section 4.8.2) So, B-IV. C. Phenylketonuria: This is an inborn error of metabolism, inherited as an autosomal recessive trait, where phenylalanine accumulates and is converted into phenylpyruvic acid due to the lack of an enzyme. (NCERT, Section 4.8.2) So, C-V. D. Down’s Syndrome: The cause of this genetic disorder is the presence of an additional copy of chromosome number 21 (trisomy of 21). (NCERT, Section 4.8.3) So, D-II. E. Frame-shift mutation: These mutations are caused by deletions and insertions of base pairs of DNA. (NCERT, Section 4.7) So, E-I. Therefore, the correct match is A-III, B-IV, C-V, D-II, E-I.
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