Use of a multiplex ligation-dependent probe amplification method for the detection of deletions/duplications in the GBA1 gene in Gaucher disease patients

Suelen P. Basgalupp, Marina Siebert, Filippo Pinto e. Vairo, Anisse Marques Chami, Louise Lapagesse de Camargo Pinto, Gerson da S. Carvalho, Ida Vanessa D. Schwartz

Research output: Contribution to journalArticle

2 Scopus citations

Abstract

Gaucher disease (GD) is caused by the deficient activity of β-glucocerebrosidase due to pathogenic mutations in the GBA1. This gene has a pseudogene (GBAP) with 96% of sequence homology. Recombination (Rec) events in the GBA1 seem to be facilitated by an increased degree of homology and proximity to the GBAP. The objectives of this study were to validate the P338-X1 GBA kit (MRC-Holland) for Multiplex Ligation-dependent Probe Amplification (MLPA) and to detect larger deletions/duplications present in GBA1 in GD patients from Brazil. Thirty-three unrelated Brazilian GD patients, previously genotyped by the Sanger method (both pathogenic alleles identified = 29 patients, only one allele identified = 3 patients, no pathogenic alleles identified = 1 patient), were evaluated by the MLPA assay. MLPA was compatible with the previous results obtained by Sanger sequencing and identified an additional allele (a heterozygous deletion in intron 7 in one patient with only one mutation identified by Sanger). Our data suggest that, although larger deletions/duplications do not appear to be frequent in GD, the P338-X1 GBA kit for MLPA appears to be a good method for GBA1 analysis. Additional investigations should be performed in order to characterize the remaining four uncharacterized alleles of our sample.

Original languageEnglish (US)
Pages (from-to)17-20
Number of pages4
JournalBlood Cells, Molecules, and Diseases
Volume68
DOIs
StatePublished - Feb 2018

Keywords

  • Gaucher disease
  • GBA1
  • MLPA
  • Molecular diagnosis

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology
  • Hematology
  • Cell Biology

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