Background: Glycogen storage disease type Ia (GSD Ia) is an autosomal recessive disorder, and diagnosis depends on genetic testing. Recently, microarray analysis has become a useful new technique for mutation analysis. We developed a GSD Ia microarray capable of identifying known mutations in the G6PC gene and validate the feasibility of using it as a rapid detection method for DNA-based diagnosis.
Methods: An approach based on universal DNA microarray (UA) and ligase detection reaction (LDR) was used. Fifteen mutations and one polymorphism were detected in this microarray. A total of 102 DNA samples from GSD Ia patients were tested.
Results: The genotypes obtained using the DNA microarray were in full agreement with those obtained by direct sequencing. For each mutation, wild-type homozygote, heterozygote, and mutant-type homozygote were typed correctly into three groups.
Conclusions: The shortened assay time and high specificity validated by 102 GSD Ia patients suggest that the GSD Ia microarray has the potential to become an efficient, rapid detection method for DNA-based diagnosis and carrier detection.