Premium
Fabry disease: Detection of gene rearrangements in the human α‐Galactosidase A Gene by Multiplex PCR Amplification
Author(s) -
Kornreich Ruth,
Desnick Robert J.
Publication year - 1993
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380020208
Subject(s) - biology , exon , gene , genetics , genomic dna , multiplex polymerase chain reaction , microbiology and biotechnology , polymerase chain reaction , gene duplication , multiplex , intron , loss of heterozygosity , coding region , allele
Fabry disease, an X‐linked recessive disorder of glycosphingolipid catabolism, results from lesions in the α‐galaciosidase A gene leading to deficient or absent activity of the lysosomal hydrolase. To facilitate the detection of rearrangements in this 14‐kb gene, a method was developed for the PCR amplification of all seven exons from genomic DNA in a single multiplex reaction. The entire coding region and all the intron/exon boundaries were amplified as four products. Application of this method permitted the detection of all five partial deletions previously identified by Southern analysis. This rapid method can be used to identify gene rearrangements in affected hemizygotes and determine heterozygosity for at risk females in families with Fabry disease. © 1993 Wiley‐Liss, Inc.