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Journal of Zhejiang University SCIENCE B 2007 Vol.8 No.8 P.566~569

http://doi.org/10.1631/jzus.2007.B0566


A new mutation (1062 del 16) of iduronate-2-sulfatase gene from a Chinese patient with Hunter syndrome


Author(s):  GUO Yi-bin, PAN Jing-xin, MENG Ya-xian

Affiliation(s):  Department of Medical Genetics, Sun Yat-sen Medical College, Sun Yat-sen University, Guangzhou 510080, China; more

Corresponding email(s):   guoyibin@mail.sysu.edu.cn, gyblym@yahoo.com.cn

Key Words:  Hunter syndrome, Mucopolysaccharidosis type II (MPS II), Glycosaminoglycan (GAG), Iduronate-2-sulfatase (IDS), Mutation, Gene diagnosis, DNA sequencing


GUO Yi-bin, PAN Jing-xin, MENG Ya-xian. A new mutation (1062 del 16) of iduronate-2-sulfatase gene from a Chinese patient with Hunter syndrome[J]. Journal of Zhejiang University Science B, 2007, 8(8): 566~569.

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author="GUO Yi-bin, PAN Jing-xin, MENG Ya-xian",
journal="Journal of Zhejiang University Science B",
volume="8",
number="8",
pages="566~569",
year="2007",
publisher="Zhejiang University Press & Springer",
doi="10.1631/jzus.2007.B0566"
}

%0 Journal Article
%T A new mutation (1062 del 16) of iduronate-2-sulfatase gene from a Chinese patient with Hunter syndrome
%A GUO Yi-bin
%A PAN Jing-xin
%A MENG Ya-xian
%J Journal of Zhejiang University SCIENCE B
%V 8
%N 8
%P 566~569
%@ 1673-1581
%D 2007
%I Zhejiang University Press & Springer
%DOI 10.1631/jzus.2007.B0566

TY - JOUR
T1 - A new mutation (1062 del 16) of iduronate-2-sulfatase gene from a Chinese patient with Hunter syndrome
A1 - GUO Yi-bin
A1 - PAN Jing-xin
A1 - MENG Ya-xian
J0 - Journal of Zhejiang University Science B
VL - 8
IS - 8
SP - 566
EP - 569
%@ 1673-1581
Y1 - 2007
PB - Zhejiang University Press & Springer
ER -
DOI - 10.1631/jzus.2007.B0566


Abstract: 
Objective: To identify the mutations of iduronate-2-sulfatase (IDS) gene, to reveal its mutation features, and to establish a basis for genetic counseling and prenatal gene diagnosis of hunter syndrome. Methods: Urine glycosaminoglycans (GAGs) assay, PCR and DNA sequencing were performed to detect mutation of IDS gene of the patient and his parents. Results: The result showed that the patient was: DS(++), HS(++), KS(−), CS(−), and that both of his parents were negative. A frame-shift deletion mutation (1062 del 16) was identified in exon 7 of the patient’s IDS gene. His parents’ genotypes were normal. Conclusion: The patient’s mutation was not inherited by his parents but a novel one. The mutation probably altered the primary structure and tertiary structure of IDS enzyme protein remarkably and lowered the activity of IDS enzyme greatly. Therefore it is supposed to be the direct cause of the disorder.

Darkslateblue:Affiliate; Royal Blue:Author; Turquoise:Article

Reference

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