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Molecular diagnosis of Gaucher disease type II
1Department of Pediatrics, China Medical College Hospital, Taichung, Taiwan, R.O.C.
Zhonghua Minguo Xiao Er Ke Yi Xue Hui Za Zhi [Journal]. Zhonghua Minguo Xiao Er Ke Yi Xue Hui
|September 1, 1995
Abstract:
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.