Detection of a new mutation (T1140C) in a patient with Hunter syndrome from Guangdong, China
Detection of a new mutation (T1140C) in a patient with Hunter syndrome from Guangdong, China
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在中国广东亨特综合征患者中检测到新突变（T1140C）
DOI：
10.1007/s11515-007-0057-8
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发表时间：
2007
期刊：
影响因子：
--
通讯作者：
Wang Jingjing
中科院分区：
文献类型：
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作者：
Guo Yibin;Du Chuanshu;Wang Jingjing
本研究鉴定了1例Hunter综合征患者的idurate-2-sulfatase（IDS）基因突变，为Hunter综合征的产前基因诊断奠定了基础。尿糖胺聚糖（GAG）测定用于粘多糖病II型的初步诊断。应用聚合酶链反应（PCR）和DNA测序技术分析先证者及其父母IDS基因第9、3、8外显子热点突变。DNA测序发现IDS基因第8外显子存在一个新的错义突变T1140 C。该突变导致密码子339从CTA（亮氨酸）替换为CCA（脯氨酸）。病人是半合子，他母亲是杂合子。新的错义突变导致IDS蛋白的一级和三级结构发生变化。这种突变可能严重损害酶活性，是该亨特氏综合征患者病理学的基础。
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 mucopolysaccharidosis 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 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 enzymatic activity and is the underlying basis for the pathology seen in this patient with Hunter syndrome.