The facile detection of 1505G-->A in Gaucher patients with different phenotypes.
In Gaucher disease patients, over 100 disease-causing mutations have been identified. For identification of the 1504C-->T (R463C) mutation it is common to use PCR-restriction fragmentation analysis using the restriction enzyme MspI. In the present study we investigated the reliability of this approach because accurate determination of genotypes is important in genotype-phenotype correlations. A simple modification, i.e. using the restriction enzyme HphI instead of MspI, revealed that type I and II Gaucher disease patients who had previously been identified as carrying the 1504C-->T mutation in fact carried the 1505G-->A (IVS10(-1)G-->A) mutation. Sequencing of the appropriate fragment confirmed this. The PCR method easily differentiates between these two mutations in Gaucher disease patients, thus circumventing the need for sequencing procedures. The phenotypes of the patients found to be carrying the 1505G-->A mutation are also described.
Moraitou
M
M
Department of Enzymology and Cellular Function, Institute of Child Health, Ag. Sophia Children's Hospital, Athens, Greece.
van Weely
S
S
Verhoek
M
M
Aerts
J
J
Dimitriou
E
E
Michelakakis
H
H
D000293:Adolescent; D000328:Adult; D003062:Codon; D015252:Deoxyribonucleases, Type II Site-Specific; D005776:Gaucher Disease / Q000097:blood / Q000235:genetics*; D005838:Genotype; D005966:Glucuronidase / Q000235:genetics*; D006115:Greece / Q000208:ethnology; D006596:Hexosaminidases / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D010641:Phenotype; D016133:Polymerase Chain Reaction
D003062:Codon; D015252:Deoxyribonucleases, Type II Site-Specific; C024412:GGTGA-specific type II deoxyribonucleases; D006596:Hexosaminidases; C086400:chitotriosidase; D005966:Glucuronidase