TY  - JOUR
TI  - Determination of mucopolysaccharidosis IIID in some goat breeds
AB  - 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.
AU  - GEDIK, YASEMIN
AU  - KAVUNCU, Orhan
DO  - 10.3906/vet-2101-41
PY  - 2021
JO  - Turkish Journal of Veterinary and Animal Sciences
VL  - 45
IS  - 5
SN  - 1300-0128
SP  - 964
EP  - 968
DB  - TRDizin
UR  - http://search/yayin/detay/514022
ER  -