BIOL 101 GL
Research Proposal-Sapkota 13 Team #1
Like many diseases, Maple Syrup Urine Disease has a genetic basis. It is caused
due to a mutated recessive gene received from both parents. Though the parents
have the gene, they do not show any signs or symptoms because they have a
dominant gene that prevents the recessive gene from working. The chance of
someone having the disease is dependent upon the carrier of the recessive gene.
The disease is inherited, not caused by anything else.
Maple Syrup Urine Disease is named after the smell of the urine from babies;
usually a sweet unique smell. Symptoms show poor appetite, throwing up, lack of
energy, and growth problems. These symptoms do not appear until later on in
infancy, but if not treated the disease can lead to death.
The location of the gene associated with the disorder is found on chromosomes
one (1: base pairs 100,432,323 to 100,487,977), six (6: base pairs 80,873,082 to
81,112,705), seven (7: base pairs 107,318,846 to 107,347,644), and nineteen (19:
base pairs 46,595,543 to 46,622,749). These particular genes contain essential