One form of achondroplasia (dwarfism) is caused by a mutation in the autosomal F

Question

One form of achondroplasia (dwarfism) is caused by a mutation in the autosomal FGFR3 gene. The normal function of the FGFR3 gene is to stop the growth of long bones when the correct signal is received (usually during puberty). In people with achondroplasia, the FGFR3 gene has a mutation that makes the protein constitutively active (constitutive means it is always active), therefore long bone growth is halted too early.

Based on the information above, the mutation in the FGFR3 gene that causes achondroplasia would likely show

a) autosomal recessive inheritance, because the gene is haplosufficient.

b) autosomal recessive inheritance, because the mutant protein is active when it shouldn't be.

c) autosomal dominant inheritance, because the gene is haploinsufficient.

d) autosomal dominant inheritance, because the gene is active when it shouldn't be.

e) autosomal dominant inheritance, because the mutant protein "poisons" the ability of the normal wild-type protein to function.

The answer is not C!

Explanation / Answer

Option D is correct Beacuse it is causing dwarfism in case of mutation. It helps in controlling the bone length for example in case of puberty. If gene will be active when there is no requirment of activation dwarrfism

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