New Scientific Technology
Gene sequencing technology was available several years earlier, but implementing the technology only became mainstream in 2018. This new technology provides gene information and gene sequencing of the the entire DNA molecule instead of just sections. By gathering DNA information from the gene sequence, the marker for the Jane Wright Earl Family was identified March 2018. This genetic marker provides the location of our family’s mutation, c.-106C>, on the chromosome. Unlike the past, blood tests now provide a confirmation as to whether or not you are a carrier of this mutated gene. See Fact Sheet
Understanding DNA Sequencing
DNA sequencing is a laboratory technique used to determine the exact sequence of bases (A, C, G, and T) in a DNA molecule. The DNA base sequence carries the information a cell needs to assemble protein and RNA molecules, and thus perform specific bodily functions. Scientists can use DNA sequence information to determine which sections of DNA contain genes and which sections carry regulatory instructions, turning genes on or off. This highly important sequence data can highlight changes in a gene that may cause disease such as OTC deficiency.