Determination of the Population Allelic Frequency of the Variants of the MPS Complex in Southwestern Colombia

Abstract Mucopolysaccharidoses are lysosomal storage diseases characterized by the excessive accumulation of glycosaminoglycan sulfate in organs and tissues. To determine population allelic frequency MPS complex variants a without clinical molecular diagnosis MPS. An observational descriptive study was carried out where presents IDUA, IDS, SGSH, NAGLU, HGSNAT, GNS, GALNS, GLB1, ARSB, GUSB, HYAL1 genes determined means sequencing 320 exomes from patients MPS; results were tabulated, formulas used to values associated with each genes. 509 alleles reported, which 262 have not been previously reported. Genes most frequent presence GLB1 involved I IV A / B. The total frequencies ranged between 0.00393 (2 alleles) 0.47937 (248 alleles). These studies make it possible polymorphisms that circulate country, present affected MPS, allowing expand knowledge about characteristics patients.