title: Rapid and cost-effective method for the detection of the c.533G>A mutation in the HEXA gene.
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.
authors.affiliation: Departamento de Genética-Unidade I&D, CGMJM-Centro de Genética Médica Dr. Jacinto Magalhães, Instituto Nacional de Saúde Dr. Ricardo Jorge (INSA, IP), Porto, Portugal.
authors.forename: Diogo
authors.initials: D
authors.lastname: Ribeiro
authors.forename: Ana Joana
authors.initials: AJ
authors.lastname: Duarte
authors.forename: Olga
authors.initials: O
authors.lastname: Amaral
mesh_terms: D000483:Alleles; D004252:DNA Mutational Analysis / Q000191:economics* / Q000379:methods*; D006580:Genetic Carrier Screening; D054818:Hexosaminidase A / Q000235:genetics*; D006801:Humans; D009154:Mutation; D012150:Polymorphism, Restriction Fragment Length; D011174:Portugal; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013661:Tay-Sachs Disease / Q000175:diagnosis* / Q000235:genetics; D013997:Time Factors
chemical_list: D054818:Hexosaminidase A