II型黏多糖贮积症的突变分析及产前诊断
[Mutation analysis of mucopolysaccharidosis type II and prenatal diagnosis].
作者信息
Liu Ning, Shi Huirong, Kong Xiangdong, Wu Qinghua, Jiang Miao
机构信息
Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China. Email:
出版信息
Zhonghua Fu Chan Ke Za Zhi. 2014 Jun;49(6):410-3.
OBJECTIVE
To analyze the mutations of IDS gene in a mucopolysaccharidosis type II (MPSII) family and to make prenatal diagnosis on the high-risk fetus which has been pregnant for eleven weeks.
METHODS
IDS gene was analyzed by bidirectional DNA sequencing in 2 patients and their mother, and 5 unaffected individuals. Prenatal diagnosis for the high-risk fetus was performed by chorionic villus sampling after the genotypes was identified.
RESULTS
The mutation c.344delA (N115fsX15) was detected in the two patients, and the mother of patients carried the heterozygous c.344delA (N115fsX15) mutation. None of the mutant was detected in the 5 unaffected subjects. The fetus carried c.344delA (N115fsX15) heterozygous mutation and was a carrier.
CONCLUSION
The deletion mutation c.344delA (N115fsX15) is causative to the pedigree of MPSII, and prenatal diagnosis is the efficient method to avoid defect birth.
目的
分析一个黏多糖贮积症II型（MPSII）家系中艾杜糖硫酸酯酶（IDS）基因的突变情况，并对已孕11周的高危胎儿进行产前诊断。
方法
采用双向DNA测序法对2例患者及其母亲和5名未患病个体的IDS基因进行分析。在确定基因型后，通过绒毛取样对高危胎儿进行产前诊断。
结果
在2例患者中检测到c.344delA（N115fsX15）突变，患者母亲携带杂合的c.344delA（N115fsX15）突变。在5名未患病个体中均未检测到该突变。胎儿携带c.344delA（N115fsX15）杂合突变，为携带者。
结论
c.344delA（N115fsX15）缺失突变是该MPSII家系的致病原因，产前诊断是避免缺陷儿出生的有效方法。
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