A new mutation of iduronate-2-sulfatase gene from the patient with Hunter syndrome.
- Author:
Yi-bin GUO
1
;
Qun-di LIN
;
Chuan-shu DU
Author Information
- Publication Type:Journal Article
- MeSH: Child, Preschool; Chromatography, High Pressure Liquid; DNA Mutational Analysis; Humans; Iduronate Sulfatase; genetics; Male; Molecular Sequence Data; Mucopolysaccharidoses; genetics; Mucopolysaccharidosis II; enzymology; genetics; Mutation
- From: Chinese Journal of Medical Genetics 2006;23(1):67-69
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify the mutations of iduronate-2-sulfatase (IDS) gene, and to establish a basis of prenatal gene diagnosis of Hunter syndrome.
METHODSUrine glycosaminoglycan (GAG) assay was used to preliminary diagnosis of mucopolysaccharidosis. PCR-denaturing high-performance liquidchromatograptly (PCR-DHPLC) analysis was performed to detect the mutation in exons 9, 3, 8 of the IDS gene. DNA sequencing was applied to analyze the mutation detected by PCR-DHPLC.
RESULTSAbnormal peaks were found by PCR-DHPLC. A new frame-mutation (1569+TT) in exon 9 of IDS gene was identified by DNA sequencing. Two "T"q inserted in position 1569 base pair (1569+TT) caused a substitution of codon 482 (TTA, leucine) to 482 (TTT, phenylalanine). The "TT" insertion results in the decrease of amino acids from 550 to 482. The patient is a hemizygote and his mother is a heterozygote.
CONCLUSIONA new frame-shift mutation of IDS gene is found to report. The mutation (1569+TT) results in 68 amino acids lost. Probably it causes the enzyme activity seriously dropped down and being pathologically the basis of disease.
