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Rapid detection of glycogen storage disease type Ia by DNA microarray by Shanshan Xu; Shengying Qin; Xuefan Gu; Wenjuan Qiu; Jun Ye; Lianshu Han; Lin He is a Medicine article available to read on EtoBox.

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## Abstract **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 specifi-city 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. Clin Chem Lab Med 2010;48:1229–34.

Who reads Rapid detection of glycogen storage disease type Ia by DNA microarray?

Author

Shanshan Xu; Shengying Qin; Xuefan Gu; Wenjuan Qiu; Jun Ye; Lianshu Han; Lin He

Publisher

Walter de Gruyter GmbH

Published

2010

Language

EN

Field

Medicine (Health Sciences)