[黏多糖贮积症II型患者艾杜糖醛酸-2-硫酸酯酶基因新突变（G1253T）的检测]
[Detection of a new mutation (G1253T) of iduronate-2-sulfatase gene for the patient with mucopolysaccharidosis type II].
作者信息
Zhang Chun-ya, Li Lu-yun, Liu Shang-feng, Fu Jun-jiang, Lu Guang-xiu
机构信息
The Institute of Reproduction and Stem Cell Engineering, Central South University, Changsha, Hunan, 410078 PR China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Jun;21(3):269-71.
OBJECTIVE
To identify the mutations of iduronate-2-sulfatase (IDS) gene in mucopolysaccharidosis type II patients.
METHODS
PCR-SSCP analysis was applied to detect the common mutations in the exons 2, 3, 5, 7, 8, 9 in IDS-gene of the patient. DNA sequencing and PCR-RFLP were applied to analyze the mutation detected by PCR-SSCP.
RESULTS
A new mutation(1253G-->T) of exon 7 of the IDS gene was found by PCR-SSCP and DNA sequencing in the patient, The PCR-restriction enzyme digestion showed that enzyme digestion location appeared in the patient and his mother, which verified the results of sequencing analysis.
CONCLUSION
The mutation of patient with MPSII could be detected effectively and quickly by the applications of PCR-SSCP, DNA sequencing and PCR-restriction enzyme digestion analysis, and the new mutation thus detected is necessary for the prenatal diagnosis of the pedigree.
目的
鉴定II型黏多糖贮积症患者艾杜糖醛酸-2-硫酸酯酶（IDS）基因的突变情况。
方法
采用聚合酶链反应-单链构象多态性分析（PCR-SSCP）检测患者IDS基因外显子2、3、5、7、8、9中的常见突变。应用DNA测序和聚合酶链反应-限制性片段长度多态性分析（PCR-RFLP）对PCR-SSCP检测到的突变进行分析。
结果
通过PCR-SSCP和DNA测序在患者中发现了IDS基因外显子7的一个新突变（1253G→T），PCR限制性酶切显示该酶切位点在患者及其母亲中出现，验证了测序分析结果。
结论
应用PCR-SSCP、DNA测序和PCR限制性酶切分析能够有效、快速地检测II型黏多糖贮积症患者的突变，所检测到的新突变对该家系的产前诊断具有重要意义。
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