TY - JOUR
T1 - Gaucher Disease Type 1
T2 - Cloning and Characterization of a cDNA Encoding Acid β-Glucosidase from an Ashkenazi Jewish Patient
AU - Graves, Peter N.
AU - Grabowski, Gregory A.
AU - Eisner, Robin
AU - Palese, Peter
AU - Smith, Frances I.
PY - 1988/10
Y1 - 1988/10
N2 - Gaucher disease (GD) type 1 is the most prevalent lysosomal storage disease and the most prevalent genetic disease among the Ashkenazi Jews. The defective activity of acid β-glucosidase is the enzymatic basis of GD and is inherited as an autosomal recessive trait. To investigate the genetic basis of Ashkenazi Jewish GD type 1, a cDNA encoding acid β-glucosidase was isolated from a cDNA library constructed using splenic poly(A)+RNA from a patient. The cDNA was sequenced to identify mutations, and the presence of a single missense mutation in the patients' genome was confirmed by selective oligonucleotide hybridization and by restriction endonuclease digestion analyses of amplified genomic sequences. This G→A transition (Arg-119 to Gln-119) was present heterozygously in the index patient and his affected third cousin but was not present in normal non-Jewish individuals. This mutation is the second single base mutation found in Ashkenazi Jewish GD type 1 patients. Furthermore, results obtained with the affected third cousin suggest that at least three mutant alleles may be present in this GD subpopulation.
AB - Gaucher disease (GD) type 1 is the most prevalent lysosomal storage disease and the most prevalent genetic disease among the Ashkenazi Jews. The defective activity of acid β-glucosidase is the enzymatic basis of GD and is inherited as an autosomal recessive trait. To investigate the genetic basis of Ashkenazi Jewish GD type 1, a cDNA encoding acid β-glucosidase was isolated from a cDNA library constructed using splenic poly(A)+RNA from a patient. The cDNA was sequenced to identify mutations, and the presence of a single missense mutation in the patients' genome was confirmed by selective oligonucleotide hybridization and by restriction endonuclease digestion analyses of amplified genomic sequences. This G→A transition (Arg-119 to Gln-119) was present heterozygously in the index patient and his affected third cousin but was not present in normal non-Jewish individuals. This mutation is the second single base mutation found in Ashkenazi Jewish GD type 1 patients. Furthermore, results obtained with the affected third cousin suggest that at least three mutant alleles may be present in this GD subpopulation.
UR - http://www.scopus.com/inward/record.url?scp=0023714905&partnerID=8YFLogxK
U2 - 10.1089/dna.1.1988.7.521
DO - 10.1089/dna.1.1988.7.521
M3 - Article
C2 - 3180993
AN - SCOPUS:0023714905
SN - 1044-5498
VL - 7
SP - 521
EP - 528
JO - DNA and Cell Biology
JF - DNA and Cell Biology
IS - 8
ER -