Detection of a new mutation (G1253T) of iduronate-2-sulfatase gene for the patient with mucopolysaccharidosis type II.
- Author:
Chun-ya ZHANG
1
;
Lu-yun LI
;
Shang-feng LIU
;
Jun-jiang FU
;
Guang-xiu LU
Author Information
- Publication Type:Journal Article
- MeSH: Child; Humans; Iduronate Sulfatase; genetics; Male; Mucopolysaccharidosis II; genetics; Mutation; Polymorphism, Single-Stranded Conformational
- From: Chinese Journal of Medical Genetics 2004;21(3):269-271
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify the mutations of iduronate-2-sulfatase (IDS) gene in mucopolysaccharidosis type II patients.
METHODSPCR-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.
RESULTSA 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.
CONCLUSIONThe 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.
