3. Detection of GAA gene mutations and inherited trait of Pompe disease
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Abstract
Pompe is a rare genetic disease that belongs to Lysosomal storage diseases. It began by mutation in the GAA gene, leading to a deficiency of the lysosomal alpha glucosidase A enzyme, thereby causing glycogen storage in the cells. To date, close to 700 GAA gene mutations have been reported. Detecting GAA gene mutation and carriers has great significance in genetic counseling. This study aims to detect GAA gene mutations and inherited traits of Pompe disease. We screen 14 patients by measuring GAA activity from DBS, then analyzed the gene sequence of 14 patients with low GAA activity and 02 parents who have children with Pompe disease to detect mutations. We detected 10 GAA gene mutations, including 02 mtuations that have not been reported previously, and 50 carriers from 8 families with GAA gene mutation.
Article Details
Keywords
Pompe disease, mutation, GAA
References
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