Prenatal diagnosis of glycogen storage disease Ia by screening for hot spot mutations in combination with the 1176 nucleotide polymorphism linkage analysis.
- Author:
Wen-juan QIU
1
;
Ya-fen ZHANG
;
Jun PAN
;
Jun YE
;
Xiao-qing LIU
;
Lian-shu HAN
;
Xue-fan GU
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Child; Child, Preschool; Family Health; Female; Genetic Linkage; Glucose-6-Phosphatase; genetics; Glycogen Storage Disease Type I; diagnosis; genetics; Humans; Male; Pedigree; Polymerase Chain Reaction; Polymorphism, Single Nucleotide; Pregnancy; Prenatal Diagnosis; methods
- From: Chinese Journal of Medical Genetics 2005;22(1):44-48
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo develop and evaluate a simple, fast and accurate prenatal diagnosis method for glycogen storage disease Ia (GSD Ia) in Chinese.
METHODSThis study involved 3 unrelated families. Genomic DNA samples were extracted from the blood of three GSD Ia patients and their parents, from the amniocytes of 3 fetuses and the blood of 2 newborns. By the way of restriction enzyme analysis, the screening for 727G-->T and R83H mutations of glucose-6-phosphatase gene was carried out in conjunction with 1176 nucleotide polymorphism linkage analysis so as to make the gene and prenatal diagnosis of 3 GSD Ia families. Direct DNA sequencing of the corresponding PCR products was used to confirm the unveiled mutations and 1176 nucleotide polymorphism.
RESULTSThree probands were homozygotes for the 727G-->T mutation and their parents were heterozygotes for this mutation. The fetuses of family 1 and 3 were heterozygotes for the 727G-->T mutation, whereas the fetus of family 2 did not carry this mutation. The 1176 nucleotide polymorphisms of 3 fetuses were different from those of the corresponding probands. The prenatal diagnoses of family 1 and 2 were confirmed by the postnatal biochemical and molecular studies.
CONCLUSIONThese findings suggest that the screening for 727G-->T and R83H mutations in conjunction with the 1176 polymorphism linkage analysis be a simple, fast and accurate method for gene and prenatal diagnosis of GSD Ia in Chinese.