Genetic heterogeneity of glycogen storage disease type Ia in France: A study of 48 patients

Forty‐eight patients with glycogen storage disease type Ia (GSD Ia) were studied. Using a combination of single‐strand conformation polymorphism (SSCP) analysis, restriction enzyme digestion and direct sequencing, we were able to identify 93/96 mutant alleles, comprising 23 different mutations in th...

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Bibliographic Details
Published in:Human mutation 2000-11, Vol.16 (5), p.444-444
Main Authors: Trioche, Pascale, Francoual, Jeanne, Chalas, Jacqueline, Capel, Liliane, Lindenbaum, Albert, Odièvre, Michel, Labrune, Philippe
Format: Article
Language:English
Subjects:
Alleles
France - epidemiology
French
G6PC
Genetic Heterogeneity
glucose-6-phosphatase
Glucose-6-Phosphatase - genetics
Glucose-6-Phosphatase - metabolism
Glycogen Storage Disease Type I - enzymology
Glycogen Storage Disease Type I - epidemiology
Glycogen Storage Disease Type I - genetics
glycogen storage disease type Ia
Humans
Liver - enzymology
Mutation - genetics
Prevalence
Sequence Deletion - genetics
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Summary:Forty‐eight patients with glycogen storage disease type Ia (GSD Ia) were studied. Using a combination of single‐strand conformation polymorphism (SSCP) analysis, restriction enzyme digestion and direct sequencing, we were able to identify 93/96 mutant alleles, comprising 23 different mutations in the glucose‐6‐phosphatase gene (G6PC). Among these, 7 are novel mutations of G6PC: M5R, T111I, A241T, C270R, F322L, and two deletions, 793delG and 872delC, resulting in the same mutation at the amino acid level, fs300Ter (300X). © 2000 Wiley‐Liss, Inc.
ISSN:1059-7794
1098-1004
DOI:10.1002/1098-1004(200011)16:5<444::AID-HUMU10>3.0.CO;2-F