[Partial deletion of alpha-galactosidase A gene in a Japanese mutant of Fabry disease].
We identified a structural defect of alpha-galactosidase A (alpha-Gal A) gene in a Japanese patient with Fabry disease. A partial deletion approximately 0.4 kilobase-pairs in size was delineated by restriction endonuclease mapping; whole exon 3 sequence was removed. alpha-Gal A mRNA was deficient in the mRNA preparation from the lymphoblastoid cells derived from the patient, and a faulty transcription resulting in an unstable alpha-Gal A message was suggested in this case. Molecular pedigree analysis was successfully performed in identifying heterozygotes and the ancestry of the mutant allele in this family.
Sakuraba
H
H
Department of Clinical Genetics, Tokyo Metropolitan Institute of Medical Science.
Bishop
D F
DF
Suzuki
T
T
Suzuki
Y
Y
Desnick
R J
RJ
D000328:Adult; D002648:Child; D002872:Chromosome Deletion; D000795:Fabry Disease / Q000201:enzymology / Q000235:genetics*; D005260:Female; D005696:Galactosidases / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D000519:alpha-Galactosidase / Q000235:genetics*
D005696:Galactosidases; D000519:alpha-Galactosidase