Molecular diagnosis of Gaucher disease type II.
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.
Tsai
F J
FJ
Department of Pediatrics, China Medical College Hospital, Taichung, Taiwan, R.O.C.
Chen
H W
HW
Peng
C T
CT
Tsai
C H
CH
Hwu
W L
WL
Wang
T R
TR
Liu
S C
SC
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