This website was constructed as a class project for Genetics 564, an undergraduate Genetics course at UW-Madison.
The Aldolase B Gene (ALDOB)
The Aldolase B gene (ALDOB in humans) is located on the ninth chromosome (see image at right, courtesy of Genetics Home Reference). It spans from nucleotide 101,420,560 to 101,435,780 and contains nine introns, or coding regions of DNA [1]. There are several mutations to ALDOB that have been identified as causes of HFI. The two most common mutations, A149P and A174D, are missense mutations, which alter the coding sequence to substitute one amino acid for another in the resulting polypeptide. Other common mutations to this gene are nonsense mutations, which encodes a stop codon that results in a truncated protein. There are seven known mutations that make up 82% of the HFI-causing mutations worldwide [2].
References
1. NCBI. (2014). ALDOB aldolase B, fructose-bisphosphate [ Homo sapiens (human) ]. Retrieved March 6, 2014, from http://www.ncbi.nlm.nih.gov/gene/229
2. Coffee, E.M., Yerkes, L., Ewen, E.P., Zee, T., Tolan, D.R. (2010). Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population. Journal of Inherited Metabolic Disorders, 33(1), 33–42. doi: 10.1007/s10545-009-9008-7
2. Coffee, E.M., Yerkes, L., Ewen, E.P., Zee, T., Tolan, D.R. (2010). Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population. Journal of Inherited Metabolic Disorders, 33(1), 33–42. doi: 10.1007/s10545-009-9008-7