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Identification of mutations in the glucose‐6‐phosphatase gene in Czech and Slovak patients with glycogen storage disease type Ia, including novel mutations K76N, V166A and 540del5
Author(s) -
Kozák Libor,
Francová Hana,
Hrabincová Eva,
Štastná Sylvie,
Pešková Karolína,
Elleder Milan
Publication year - 2000
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/1098-1004(200007)16:1<89::aid-humu17>3.0.co;2-a
Subject(s) - biology , genetics , glycogen storage disease , mutant , mutation , gene , point mutation , allele , glucose 6 phosphatase , microbiology and biotechnology , glycogen , enzyme , biochemistry
Mutations in the glucose‐6‐phosphatase (G6Pase) gene are responsible for glycogen storage disease type Ia (GSD Ia). A study of the molecular basis of GSD Ia was carried out in 12 Czech and Slovak GSD Ia patients from 10 unrelated families. Mutation analysis was performed for the entire coding region of G6Pase gene using DGGE, sequencing and PCR/digestion. With the strategy used, all mutant alleles were identified in this study. Three novel mutations (K76N, V166A and 540del5), six previously described mutations (W77R, R83C, G188R, R295C, Q347X and 158delC) and one known polymorphism (1176T→C) were detected. The most common mutation identified was R83C, accounting for 8 out of 20 (40%) mutant alleles. The K76N mutation was found in a Gypsy family: two siblings with GSD Ia were homozygous for this mutation. These findings expand our knowledge of mutations responsible for glycogen storage disease type Ia. Hum Mutat 16:89, 2000. © 2000 Wiley‐Liss, Inc.