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Title: Rapid and cost-effective method for the detection of the c.533G>A mutation in the HEXA gene
Author: Ribeiro, D.
Duarte, A.J.
Amaral, O.
Keywords: Genética Humana
Doenças Genéticas
Mutation analysis
Tay Sachs variant B1
Hexosaminidase A
lysosomal storage diseases
Issue Date: Mar-2011
Publisher: Mary Ann Liebert, Inc. publishers
Citation: Genet Test Mol Biomarkers. 2011 Mar;15(3):123-6. Epub 2011 Jan 4
Abstract: Tay-Sachs disease is a rare autosomal recessive neurodegenerative disorder that results from mutations in the HEXA gene, leading to β-hexosaminidase A (HexA) α subunit deficiency. An unusual variant of Tay-Sachs disease is known as the B1 variant. Previous studies indicated that, in northern Portugal, this is not only the most common variant but also one of the most prevalent lysosomal storage diseases. Additionally, this variant might also show a higher prevalence in populations of Portuguese and Spanish ancestry. A single mutation is invariably present in at least one of the alleles of B1 variant patients, HEXA mutation c.533G >A. To implement a method for c.533G >A testing in individuals and populations, we have optimized two distinct mutation analysis techniques, one based on restriction fragment length polymorphism analysis and the other based on allelic discrimination. We present the comparison of both methods and their advantages. Mutation screening by allelic discrimination proved to be particularly useful for the studying of large samples of individuals. It is time saving and highly reproducible, and under the conditions used, its cost is lower than the cost of polymerase chain reaction-based restriction fragment length polymorphism analysis.
Peer review: yes
ISSN: 1945-0265
Publisher Version:
Appears in Collections:DGH - Artigos em revistas internacionais

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