Abstract
We identified a structural defect of α-galactosidase A (α-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, α-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 α-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.
Original language | English |
---|---|
Pages (from-to) | 247-252 |
Number of pages | 6 |
Journal | No To Hattatsu |
Volume | 22 |
Issue number | 3 |
DOIs | |
State | Published - 1990 |
Externally published | Yes |