Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele.

Abstract excerpt

Infantile-onset glycogen storage disease type II, or Pompe disease, results from a genetic deficiency of the lysosomal enzyme acid alpha glucosidase (GAA). Sequencing of the cDNA from a cell line (GM 244) derived from a patient with Pompe disease demonstrated a T953-to-C transition that predicted a methionine-to-threonine substitution at codon 318. The basepair substitution resulted in loss of...

Topics

• Base Sequence
• Blotting, Southern
• Cell Line
• Cloning, Molecular
• Endonucleases
• Female
• Glycogen Storage Disease Type II
• Humans
• Methionine
• Molecular Sequence Data
• Mutation