Achondroplasia is a dominantly inherited condition with a phenotype that includes a large head and short stature. It is caused by mutations in the gene for fibroblast growth factor receptor 3 (FGFR3), which causes the receptor to be active even when its ligand is not present. Compared to individuals without achondroplasia, individuals who are heterozygous for this condition most likely:A.do not have the achondroplasia phenotype because expression of the wild-type receptor masks the expression of the mutant receptor.B.have the achondroplasia phenotype because having one copy of the mutant receptor causes the receptor to be inappropriately activated.C.have an intermediate phenotype between wild-type and achondroplasia because both wild-type and mutant receptors are expressed.D.do not have the achondroplasia phenotype because only the wild-type receptor is expressed.
Question
Achondroplasia is a dominantly inherited condition with a phenotype that includes a large head and short stature. It is caused by mutations in the gene for fibroblast growth factor receptor 3 (FGFR3), which causes the receptor to be active even when its ligand is not present. Compared to individuals without achondroplasia, individuals who are heterozygous for this condition most likely:A.do not have the achondroplasia phenotype because expression of the wild-type receptor masks the expression of the mutant receptor.B.have the achondroplasia phenotype because having one copy of the mutant receptor causes the receptor to be inappropriately activated.C.have an intermediate phenotype between wild-type and achondroplasia because both wild-type and mutant receptors are expressed.D.do not have the achondroplasia phenotype because only the wild-type receptor is expressed.
Solution
Individuals who are heterozygous for achondroplasia most likely have the achondroplasia phenotype because having one copy of the mutant receptor causes the receptor to be inappropriately activated. This is because achondroplasia is a dominantly inherited condition, meaning that only one copy of the mutated gene is needed for the person to have the condition. The mutation in the FGFR3 gene causes the receptor to be active even when its ligand is not present, leading to the characteristic features of achondroplasia such as a large head and short stature.
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