[Detection of a new mutation (G1253T) of iduronate-2-sulfatase gene for the patient with mucopolysaccharidosis type II].
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.
Zhang
Chun-ya
CY
The Institute of Reproduction and Stem Cell Engineering, Central South University, Changsha, Hunan, 410078 PR China.
Li
Lu-yun
LY
Liu
Shang-feng
SF
Fu
Jun-jiang
JJ
Lu
Guang-xiu
GX
D002648:Child; D006801:Humans; D007066:Iduronate Sulfatase / Q000235:genetics*; D008297:Male; D016532:Mucopolysaccharidosis II / Q000235:genetics*; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational
D007066:Iduronate Sulfatase