Detection of a new mutation(T1140C)in a patient with Hunter syndrome from Guangdong,China  

作　　者：GUO Yibin DU Chuanshu WANG Jingjing 

机构地区：[1]Department of Medical Genetics,Preclinical Medical School,Sun Yat-Sen University,Guangzhou 510080,China

出　　处：《Frontiers in Biology》2007年第4期383-386,共4页生物学前沿（英文版）

基　　金：This work was supported by Chinese Medical Board Partly Imburse(No.2003).

摘　　要：This study identified mutations of the idurnate-2-sulfatase(IDS)gene in a patient with Hunter syndrome,and established a basis for the diagnosis of the prenatal gene of Hunter syndrome.Urine glyeosaminoglycan(GAG)assay was used to make the preliminary diagnosis of mucopolysac-charidosis type II.Polymerase chain reaction(PCR)from dried blood spots and DNA sequencing were applied to analyze hotspot mutations in exons 9,3 and 8 of the IDS gene in the proband and his parents.A new missense mutation(T1140C)in exon 8 of the IDS gene was found by using DNA sequencing.This mutation caused a substitution of codon 339 from CTA(leucine)to CCA(praline).The patient is a hemi-zygote,and his mother is a heterozygote.The new missense mutation results in a change in the primary and tertiary struc-ture of the IDS protein.It is possible that this mutation severely impairs enzymatic activity and is the underlying basis for the pathology seen in this patient with Hunter syndrome.

关 键 词：Hunter syndrome mucopolysaccharidosis typeⅡ iduronate-2-sulfatase gene mutation polymerase chain reaction DNA sequencing 

分 类 号：TP3[自动化与计算机技术—计算机科学与技术]