Molecular characterization of a new deletion of the GBA1 gene due to an inter Alu recombination event.
Por:
Cozar M, Bembi B, Dominissini S, Zampieri S, Vilageliu L, Grinberg-Vaisman DR and Dardis A
Publicada:
1 feb 2011
Ahead of Print:
29 oct 2010
Resumen:
Gaucher disease is the most frequent lysosomal storage disorder due to the autosomal recessive deficiency of acid ß-glucosidase. More than 300 mutations in the GBA1 gene have been described. However only one large deletion of the GBA1 gene has been reported to date. Here, using a combination of different experimental approaches including PCR, sequencing and Southern blot analysis, we describe the identification and characterization of a new large deletion of the GBA1 gene due to an inter Alu recombination event.
Filiaciones:
Cozar M:
Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, CIBER de Enfermedades Raras, Institut de Biomedicina de la Universitat de Barcelona (IBUB), Barcelona, Spain
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