Mucopolysaccharidosis IIID (MPS IIID) or Sanfilippo D syndrome is an inherited lysosomal storage disease and caused by a deficiency of the N-acetylglucosamine-6-sulfatase activity, which involves in the catabolism of heparan sulfate. In addition to humans, canine, feline and murine, goats have been reported as possessing this lysosomal storage disease. The molecular defect in the MPS IIID goat has been previously identified. It has been observed that a molecular base for this defect is a nonsense mutation at nucleotide 322 (C→T) results in the change of the arginine codon to a stop codon. This mutation is not only to be related to stop enzyme function but also introduces a recognition site for AluI that will enable carrier detection. The goal of this study is to find the presence of MPS IIID genetic disorder in some goat breeds. A total of 80 goat blood samples selected randomly from 4 different countries including Kyrgyzstan, Iraq, Northern Cyprus and Bosnia-Herzegovina were used as a sample. Polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) and DNA sequence data were utilized to identify this disorder in the goat populations. The result of this study demonstrates nonsense mutation which causes MPS IIID genetic disorder was not found in the goat breeds studied, while a silent mutation was found at nucleotide 354 (T→C) when compared with reference sequence.
GEDİK, YASEMİN and KAVUNCU, ORHAN
"Determination of mucopolysaccharidosis IIID in some goat breeds,"
Turkish Journal of Veterinary & Animal Sciences: Vol. 45:
5, Article 20.
Available at: https://journals.tubitak.gov.tr/veterinary/vol45/iss5/20