[A new mutation of iduronate-2-sulfatase gene from the patient with Hunter syndrome].
OBJECTIVE
To identify the mutations of iduronate-2-sulfatase (IDS) gene, and to establish a basis of prenatal gene diagnosis of Hunter syndrome.


METHODS
Urine 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.


RESULTS
Abnormal 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.


CONCLUSIONS
A 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.
Guo
Yi-bin
YB
Department of Medical Genetics, Sun Yat-sen Medical College, Sun Yat-sen University, Guangzhou, Guangdong 510080, P.R.China. guoyibin@mail.sysu.edu.cn
Lin
Qun-di
QD
Du
Chuan-shu
CS
D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D004252:DNA Mutational Analysis; D006801:Humans; D007066:Iduronate Sulfatase / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009083:Mucopolysaccharidoses / Q000235:genetics; D016532:Mucopolysaccharidosis II / Q000201:enzymology / Q000235:genetics*; D009154:Mutation
D007066:Iduronate Sulfatase