Gaucher disease is a rare autosomal recessive lysosomal storage disorder in Chinese. A mutation at nucleotide 1448C (T-to-C) of the glucocerebrosidase gene is described in type 2 Gaucher disease. This mutation creates a Bcn I site in a polymerase chain reaction (PCR) amplified fragment. This technique was applied to a Chinese infant with type 2 Gaucher disease, and homozygosity for 1448C mutation was proved. This new finding can make prenatal diagnosis and carrier detection possible in Chinese population with type 2 Gaucher disease.