Genetically based enzyme deficiencies in humans

Phenylketonuria is caused majorly due to mutations in the _____ gene.

• Phenylalanine ammonia lyase

• Phenylalanine hydroxylase

• Tyrosine hydroxylase

• Phenylalanine synthase

A genetic alteration in the DNA sequence (insertion, deletion or replacement of base/s) resulting in premature termination of protein synthesis (early stop codon) is known as ________.

• Non-sense mutation

• Missense mutation

• Splice site mutations

Oculocutaneous Type II albinism is related to genetic defect in ___ gene.

• Tyrosinase

• Tyrosinase related protein-1

• P-protein

In albinism, _____ pigment production is affected greatly.

• Melatonin

• Cyanin

• Anthocyanin

• Melanin

In Tay-Sachs disease, metabolism of _____ is hampered.

• Ganglioside

• Glycoprotein

• Proteoglycan

• Lipopolysacchraide

In Tay Sachs disease, the mutation predominantly found is a _______.

• insertion

• deletion

• replacement