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ISSN 2070-8718 (Print)

2017, Number 1

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Rev Cub Gen 2017; 11 (1)

Molecular characterization of the GBA gene in Cuban patients with Gaucher disease

López RI, Esperón ÁAA, Lavaut SK, Puerta DA, Santos GEN, Rubio GT, Reyes NL, Gómez MM, Acanda RAM, Collazo MT

Language: Spanish
References: 31
Page: 20-26
PDF size: 369.70 Kb.


ABSTRACT

Gaucher disease (GD) is the most prevalent lysosomal storage disorder worldwide. It presents an autosomal recessive inheritance pattern and originates mainly from mutations in the GBA gene, located in the 1q21 chromosomal region, which encodes the lysosomal enzyme β-glucosidase. The present work describes the results obtained by the Molecular Biology Laboratory of the National Center of Medical Genetics, Havana, Cuba, in the analysis of the GBA gene in Cuban patients with clinical suspicion of GD. Seven unrelated patients, clinically characterized and with biochemical and/or histological diagnosis, were studied. Four mutations were studied by amplifying GBA gene sequences and restriction enzyme digestion. In cases where none of the mutations studied by direct analysis were present, the samples were subjected to mutation screening and DNA sequencing. Molecular analysis allowed to identify the mutation present in 100% of the analyzed chromosomes. Mutations L444P, N370S and I403T were detected. The present study established a methodology for the diagnosis by molecular biology of Gaucher disease in the Cuban population that allows to offer an effective and rapid diagnostic service to patients with suspected disease and to possible carriers.


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