A) phenylalanine
B) tyrosine
C) valine replacing glutamine
D) glutamine replacing valine
E) homogentisic acid
Correct Answer: E
Solution :
Alkaptonuria is genetic disease. It is a metabolic disorder in which patient excrete large amount of homogentisic acid in urine. Such urine rums black when exposed to air. Phenylketonuria (PKU) results, when there is a deficiency of the liver enzyme phenylalanine hydyroxylase which converts phenylalanine into tyrosine. It interferes with brain development and also muscular problems. Albinism is a genetic and hereditary disease, occurs due to enzymes tyrosinase deficiency, which functions in melanin synthesis in humans. Sickle-cell anaemia is due to molecular gene mutation of gene\[\text{H}{{\text{b}}^{\text{A}}}\text{,}\]which produces\[\beta \] chain of adult haemoglobin. In sickle cell anaemia (with mutated gene\[\text{H}{{\text{b}}^{\text{S}}}\]), the sixth amino acid glutamic acid (in\[\beta \text{-}\]chain of normal haemoglobin) is replaced by valine, amino acid. Which codes for Sickle cell haemoglobin.
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