中国广东Hunter综合征患者的T1140C新突变  

Detection of a New Mutation(T1140C) in a Chinese Guangdong Patient with Hunter Syndrome

作　　者：郭奕斌[1] 杜传书[1] 

机构地区：[1]中山大学基础医学院医学遗传室,广州510080

出　　处：《遗传》2006年第5期521-524,共4页Hereditas（Beijing)

基　　金：美国中华医学基金会(CMB)部分基金资助项目(编号:2003)~~

摘　　要：应用尿黏多糖含量检测、干血滤纸片直接扩增、PCR产物直接测序法对患者及其父母等的IDS基因的突变热点exons 9,3,8进行突变检测。发现患儿IDS基因的exon 8发生一新的错义突变,突变部位在第339位密码子(CTA)内,即cDNA第1 140 bp的T突变为C,导致原339位的“亮氨酸CTA”突变为“脯氨酸CCA”。该患儿为这一突变的半合子,而其母为这一突变的杂合子。该错义突变改变了IDS酶的一级结构和三级空间结构,从而可能引起IDS酶活性大大降低,这可能是该Hunter综合征患者的真正致病原因。To identify mutations of iduronate-2-sulfatase （ IDS ） gene in a patient with Hunter syndrome, and to establish a basis for prenatal gene diagnosis of Hunter syndrome. Urine GAG assay was used for preliminary diagnosis of mucopolysaccharidosis. PCR from dried blood spots and DNA sequencing were applied to analyze hot spot mutations in exons 9, 3, 8 of the /DS gene in the proband and his parents. A new missense mutation （T1140C） in exon 8 of the /DS gene was found by DNA sequencing. This mutation caused a substitution of codon 339 from CTA （leucine） to CCA （proline）. The patient is a hemizygote and his mother is a heterozygote. The new missense mutation results in a change in the primary and tertiary structure of the IDS protein. It is possible that this mutation severely impairs the enzymatic activity and is the underlying basis for the pathology seen in this patient with Hunter syndrome.

关 键 词：HUNTER综合征 黏多糖贮积症Ⅱ型 艾杜糖-2-硫酸酯酶 基因突变 聚合酶链反应 DNA序列分析 

分 类 号：R394[医药卫生—医学遗传学]