title: Diagnosis of caprine mucopolysaccharidosis type IIID by real-time polymerase chain reaction-based genotyping.
abstract: Mucopolysaccharidosis type IIID is caused by a deficiency of N-acetylglucosamine-6-sulfatase, which is one of the enzymes involved in the catabolism of heparin sulfate. Simple molecular marker assays underpin modern routine animal breeding and research activities worldwide. With the rapid growth of single nucleotide polymorphism (SNP) resources for many important animal genetic disorders, the availability of routine assays for genotyping SNPs is of increased importance. In the current study, real-time polymerase chain reaction (PCR) is demonstrated to provide a valuable approach as a rapid and accurate alternative to a previously developed gel-based PCR as a straightforward and efficient assay for the diagnosis of caprine mucopolysaccharidosis IIID.
authors.affiliation: Texas Veterinary Medical Diagnostic Laboratory, 1 Sippel Road, College Station, TX 77843, USA. aclavijo@tvmdl.tamu.edu
authors.forename: Alfonso
authors.initials: A
authors.lastname: Clavijo
authors.forename: Feng
authors.initials: F
authors.lastname: Sun
authors.forename: Loyd
authors.initials: L
authors.lastname: Sneed
mesh_terms: D000818:Animals; D015971:Gene Expression Regulation, Enzymologic; D020022:Genetic Predisposition to Disease; D005838:Genotype; D015511:Goat Diseases / Q000175:diagnosis* / Q000235:genetics; D006041:Goats; D009083:Mucopolysaccharidoses / Q000175:diagnosis / Q000201:enzymology / Q000662:veterinary*; D016133:Polymerase Chain Reaction / Q000379:methods / Q000662:veterinary*; D013429:Sulfatases / Q000172:deficiency / Q000235:genetics*
chemical_list: D013429:Sulfatases; C018719:N-acetylglucosamine-6-sulfatase