Mutation analysis of mucopolysaccharidosis type Ⅱ and prenatal diagnosis
10.3760/cma.j.issn.0529-567x.2014.06.003
- VernacularTitle:黏多糖贮积症Ⅱ型家系IDS基因突变分析及产前诊断
- Author:
Ning LIU
;
Huirong SHI
;
Xiangdong KONG
;
Qinghua WU
;
Miao JIANG
- Publication Type:Journal Article
- Keywords:
Mucopolysaccharidosis Ⅱ;
Iduronate sulfatase;
Mutation;
Prenatal diagnosis;
Pedigree
- From:
Chinese Journal of Obstetrics and Gynecology
2014;49(6):410-413
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyze the mutations of IDS gene in a mucopolysaccharidosis type Ⅱ (MPS Ⅱ) 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 MPS Ⅱ,and prenatal diagnosis is the efficient method to avoid defect birth.
