New Method for Genome Analysis

Researchers have been studying a very rare genetic disorder called Mabry Syndrome. Some characteristics include mental retardation, seizures and increased amounts of the enzyme alkaline phosphates. Before this time the exact genetic cause was unclear. However, scientists have discovered the mutation in PIGV gene is the cause for some proteins inability to anchor onto the cell membrane. Thus they are not able to function properly in the brain. In the case of Mabry Syndrome, the PIGV mutation is the reason that alkaline phosphatase cannot connected to the cell membrane. It accumulates in the blood and this is the reason for increased levels and how it is diagnosed. This discovery was made possible by “a new process that allows all the genes in the human genome to be analyzed simultaneously.” It was used on three children in the same family that all suffer from Mabry Syndrome. This is a huge breakthrough according to the article because “based on these results, the scientists will be able to carry out further research on the disease and develop new options for its treatment.” This process can now be used for other genetic disorders as well because "the new genome sequencing processes are suitable for tracking down individual mutations in the genome and for the identification of theses mutations as the cause of rare diseases."

http://www.sciencedaily.com/releases/2010/08/100829202000.htm