[Ⅱ型黏多糖贮积症家系中IDS基因突变分析]
[Analysis of IDS gene mutation in a family affected with mucopolysaccharidosis typeⅡ].
作者信息
Li Yiying, Mei Shiyue, Kong Xiangdong, Zhao Zhenhua, Zhu Xiaofan, Yang Xinyu, Qin Zhi, Wu Han
机构信息
Prenatal Diagnosis Center, The First Affiliated Hospital, Zhengzhou University, Zhengzhou, Henan 450052, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Feb 10;34(1):58-60. doi: 10.3760/cma.j.issn.1003-9406.2017.01.013.
OBJECTIVE
To detect potential mutation of iduronate-2-sulfatase (IDS) gene in a family affected with mucopolysaccharidosis type Ⅱ (MPS Ⅱ).
METHODS
For the proband and his unaffected mother, the whole coding sequence of the IDS gene was analyzed with PCR and bidirectional Sanger sequencing.
RESULTS
A novel splicing mutation, c.709-1G>A, was detected in the proband, for which his mother was heterozygous.
CONCLUSION
The c.709-1G>A splicing mutation of the IDS gene is probably causative for the MSP Ⅱ in the proband. Prenatal diagnosis for the mutation may avoid birth of further child affected with this disease.
目的
检测黏多糖贮积症Ⅱ型（MPSⅡ）家系中艾杜糖-2-硫酸酯酶（IDS）基因的潜在突变。
方法
对先证者及其未患病母亲，采用聚合酶链反应（PCR）和双向桑格测序法分析IDS基因的整个编码序列。
结果
在先证者中检测到一种新的剪接突变，即c.709-1G>A，其母亲为该突变的杂合子。
结论
IDS基因的c.709-1G>A剪接突变可能是先证者患MSPⅡ的病因。对该突变进行产前诊断可避免再有患此病的患儿出生。
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