Question

Galactosemia is a metabolic disorder characterized by the inability to metabolize the sugar galactose. People with galactosemia suffer from liver, kidney, and brain damage among other symptoms. A gene mutation underlying galactosemia was identified by sequencing the genome of a person with galactosemia. What additional evidence would support the hypothesis that the mutation in the candidate gene causes the disease

Answer 1

Genetic mapping for unequivocal identification of the potentially causative mutation

Explanation:

Galactosemia is a genetic disorder caused by mutations in the Galactose-1-phosphate uridylyltransferase (GALT) gene, which encodes an enzyme involved in the metabolism of galactose. Gene mapping is a technique widely used in genetics to identify the position of one locus a chromosome by using molecular markers to estimate genetic distances. Genetic mapping provides useful evidence in order to identify when a disease that is transmitted from parent to offspring can be associated with one or more genes and then determine which gene/s is/are responsible for this condition.