Mutation analysis of mucopolysaccharidosis type Ⅱ and prenatal diagnosis / 中华妇产科杂志
Chinese Journal of Obstetrics and Gynecology
; (12): 410-413, 2014.
Article
in Zh
| WPRIM
| ID: wpr-453508
Responsible library:
WPRO
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.
Full text:
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Index:
WPRIM
Type of study:
Diagnostic_studies
Language:
Zh
Journal:
Chinese Journal of Obstetrics and Gynecology
Year:
2014
Type:
Article