Personal+Genomics+of+PAH+Results

A pedigree showing the connection between parent and offspring of parents who are carriers and their possibility of having an affected child. If both parents are heterozygous for the mutated PAH gene, then there is a 25% chance that one of their offspring will have the disease, 50% will be carriers, and 25% will be homozygous with no traces of the disease at all. (Image open to the public on Google.)

The comparison of the process of phenylalanine hydroxylase in a healthy person and a person with PKU. Within a normal individual, the PAH gene will take the Phe and transform it into tyrosine. When the PAH gene is defective or mutated, the Phe cannot follow through the process to becoming tyrosine and there is then an excess amount of Phe in the blood. This over abundance causes many complications like brain disorders, seizures, and regulated diet. (Image open to the public on Google. )

These are the known protein connections for homo sapiens. The more connections there are, the stronger the relation to PKU that each of the genes have. Based on this image, PAH gene has the strongest relation, but there are a few that are closely related in the amount of connections made. (http://string-db.org/newstring_cgi/show_network_section.pl?taskId=_ID4_gN4AL9v&interactive=yes&advanced_menu=_unassigned&network_flavor=confidence)

The genome-wide association study(GWAS) is an examination of many common genetic variants in different individuals to see if any of the variants are associated with any given trait, like with phenotypes. There are SNPs associated with this gene. Six different markers/regions of the gene contained these SNPs that cause PKU.

The 23andMe site allows individuals to take a sample of their saliva and send it in to be analyzed for research. The DNA from the sample is not distributed to the public, but the data from their genome and surveys they may participate in are used for further research. There is not a whole lot of information regarding PKU out for the public to access. Permission to access a participants results would be the only other way of obtaining any more information in respect to PKU. Once having access to login information, the two search results on 23andMe of PKU came up with information about the FDA changing the rules and availability to the genome data for participants and PKU within Canada. The Canada site also provides description of the disease and examples of data that could be seen in participants’ reports. PKU involves the accumulation of phenylalanine and some other diseases like Alzheimer’s disease and Parkinson’s disease may have a correlation with PKU. Those diseases assemble a toxic, abnormal amyloid that is made up of protein fragments and such proteins like phenylalanine accelerate the process of this build up process (Adler-Abramovich et al. 2012).

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