Marfan Syndrome is a heritable disorder of connective tissue caused by a mutated extracellular matrix glycoprotein protein, affecting 1 in 5,000 people worldwide. This protein is responsible for support and elasticity meaning that people affected by this disorder manifest with weakened tendons, ligaments and other connective tissues. Patients exhibit a wide variety of symptoms including, scoliosis, abnormally slender digits, vision problems and enlarged blood vessels. Marfan’s follows an autosomal dominant pattern of inheritance and has a penetrance of 100%, meaning that anyone inheriting the gene will be affected by the disease. This study focuses on the developments in the field of DNA mapping and how these advancements have improved the diagnostic tools and treatments for this disease. After exploring the methodology of DNA mapping, the LOD scores for Marfan Syndrome are discussed and compared in order to conclude which chromosome carried the mutation; it was found that chromosome 15 carries. Additionally, the results compare and contrast different genetic markers and identifies a link between markers D15529 and D15545. Although this technology is fairly recent and has thus not been studied as extensively as traditional methods, the information gathered in this research illustrates the methodology of DNA mapping and how; by understanding the gene expression and mutation at a biochemical level, diagnostics and treatments for patients can be tailored specifically to the disease and not just management of the symptoms.
Cultivation-Free Typing of Bacteria Using Optical DNA Mapping
