title: Molecular diagnosis of Gaucher disease type II.
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.
authors.affiliation: Department of Pediatrics, China Medical College Hospital, Taichung, Taiwan, R.O.C.
authors.forename: F J
authors.initials: FJ
authors.lastname: Tsai
authors.forename: H W
authors.initials: HW
authors.lastname: Chen
authors.forename: C T
authors.initials: CT
authors.lastname: Peng
authors.forename: C H
authors.initials: CH
authors.lastname: Tsai
authors.forename: W L
authors.initials: WL
authors.lastname: Hwu
authors.forename: T R
authors.initials: TR
authors.lastname: Wang
authors.forename: S C
authors.initials: SC
authors.lastname: Liu
mesh_terms: D001483:Base Sequence; D005776:Gaucher Disease / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D011296:Prenatal Diagnosis