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Fabry disease: Detection of 13‐bp deletion in α‐galactosidase a gene and its application to gene diagnosis of heterozygotes
Author(s) -
Ishii Satoshi,
Sakuraba Hitoshi,
Shimmoto Michie,
MinamikawaTachino Reiko,
Suzuki Tadashi,
Suzuki Yoshiyuki
Publication year - 1991
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410290517
Subject(s) - polymerase chain reaction , gene , heterozygote advantage , breakpoint , exon , biology , genetics , genomic dna , microbiology and biotechnology , dna , gene duplication , genotype , chromosomal translocation
Abstract Polymerase chain reaction amplification of reversetranscribed messenger RNA from a patient with Fabry disease revealed a 13‐base pair deletion in the 5′ region (exon 1) of α‐galactosidase A complementary DNA. This gene rearrangement was not detected by Southern or Northern analysis. Short direct repeats were present around the breakpoints, and considered to be of pathogenetic significance. Gene diagnosis of the mother and a female cousin was successfully achieved by polymerase chain reaction amplification of genomic DNA; the former as a Fabry disease heterozygote and the latter as a normal homozygote.