We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Rapid detection of glycogen storage disease type Ia by DNA microarray.
- Authors
Shanshan Xu; Shengying Qin; Xuefan Gu; Wenjuan Qiu; Jun Ye; Lianshu Han; Lin He
- 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.
- Publication
Clinical Chemistry & Laboratory Medicine, 2010, Vol 48, Issue 9, p1229
- ISSN
1434-6621
- Publication type
Academic Journal
- DOI
10.1515/CCLM.2010.244