title: [Detection of a new mutation (G1253T) of iduronate-2-sulfatase gene for the patient with mucopolysaccharidosis type II].
abstract: OBJECTIVE
  To identify the mutations of iduronate-2-sulfatase (IDS) gene in mucopolysaccharidosis type II patients.
  
  
  METHODS
  PCR-SSCP analysis was applied to detect the common mutations in the exons 2, 3, 5, 7, 8, 9 in IDS-gene of the patient. DNA sequencing and PCR-RFLP were applied to analyze the mutation detected by PCR-SSCP.
  
  
  RESULTS
  A new mutation(1253G-->T) of exon 7 of the IDS gene was found by PCR-SSCP and DNA sequencing in the patient, The PCR-restriction enzyme digestion showed that enzyme digestion location appeared in the patient and his mother, which verified the results of sequencing analysis.
  
  
  CONCLUSIONS
  The mutation of patient with MPSII could be detected effectively and quickly by the applications of PCR-SSCP, DNA sequencing and PCR-restriction enzyme digestion analysis, and the new mutation thus detected is necessary for the prenatal diagnosis of the pedigree.
authors.affiliation: The Institute of Reproduction and Stem Cell Engineering, Central South University, Changsha, Hunan, 410078 PR China.
authors.forename: Chun-ya
authors.initials: CY
authors.lastname: Zhang
authors.forename: Lu-yun
authors.initials: LY
authors.lastname: Li
authors.forename: Shang-feng
authors.initials: SF
authors.lastname: Liu
authors.forename: Jun-jiang
authors.initials: JJ
authors.lastname: Fu
authors.forename: Guang-xiu
authors.initials: GX
authors.lastname: Lu
mesh_terms: D002648:Child; D006801:Humans; D007066:Iduronate Sulfatase / Q000235:genetics*; D008297:Male; D016532:Mucopolysaccharidosis II / Q000235:genetics*; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D007066:Iduronate Sulfatase