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Title: Validation of suspected somatic Single Nucleotide Variations in the brain of Alzheimer disease patients
Author: Gómez Ramos, Alberto
Picher, Angel J.
García, Esther
Garrido, Patricia
Hernández, Félix
Soriano García, Eduardo
Avila, Jesús
Keywords: Malaltia d'Alzheimer
Alzheimer's disease
Issue Date: 19-Jan-2017
Publisher: IOS Press
Abstract: Next-generation sequencing techniques and genome-wide association study analyses have provided a huge amount of data, thereby enabling the identification of DNA variations and mutations related to disease pathogenesis. New techniques and software tools have been developed to improve the accuracy and reliability of this identification. Most of these tools have been designed to discover and validate single nucleotide variants (SNVs). However, in addition to germ-line mutations, human tissues bear genomic mosaicism, which implies that somatic events are present only in low percentages of cells within a given tissue, thereby hindering the validation of these variations using standard genetic tools. Here we propose a new method to validate some of these somatic mutations. We combine a recently developed software with a method that cuts DNA by using restriction enzymes at the sites of the variation. The non-cleaved molecules, which bear the SNV, can then be amplified and sequenced using Sanger's technique. This procedure, which allows the detection of alternative alleles present in as few as 10% of cells, could be of value for the identification and validation of low frequency somatic events in a variety of tissues and diseases.
Note: Reproducció del document publicat a:
It is part of: Journal of Alzheimer's Disease, 2017, vol. 56, num. 3, p. 977-990
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ISSN: 1387-2877
Appears in Collections:Articles publicats en revistes (Biologia Cel·lular, Fisiologia i Immunologia)
Articles publicats en revistes (Institut de Neurociències (UBNeuro))

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