title: PCR-based restriction fragment length polymorphism and haplotype of the most common mutation L176F in the beta-glucuronidase gene.
abstract: Mucopolysaccharidosis type VII or Sly syndrome is an autosomal recessive disorder of glycosaminoglycan storage leading to variable clinical symptoms, such as hepatosplenomegaly, bone deformities, hearing loss, corneal opacities, mental retardation, and hydrops fetalis in affected individuals. The disease is caused by approximately 40 different mutations in the beta-glucuronidase gene. Detection of the most common mutation L176F by single-strand conformation polymorphism (SSCP) was not always successful. Although DNA sequencing followed by PCR amplification can easily detect this mutation, accessibility to a DNA sequencer or useful reagents in the sequencing procedure is not readily available in many countries. A PCR-based restriction fragment length polymorphism (RFLP) developed in this report would allow rapid and easier detection of this mutation for screening new patients or neonates of heterozygous parents. Analysis of intragenic polymorphic sites in the L176F patients identified two distinct alleles; the predominant one probably originated in Spain.
authors: Department of Chemistry and Physics, Northwest Missouri State University, Maryville, MO 64468, USA. islamr@nwmissouri.edu
authors: M Rafiq
authors: MR
authors: Islam
authors: Gul N
authors: GN
authors: Shah
authors: William S
authors: WS
authors: Sly
mesh_terms: D001483:Base Sequence; D017931:DNA Primers; D005966:Glucuronidase / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D016538:Mucopolysaccharidosis VII / Q000235:genetics; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods*; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D017931:DNA Primers; D005966:Glucuronidase