Open AccessA simple approach for classifying new mutations as somatic or germinal in DNA samples lacking paired tissue
Author(s) -
I. Erquiaga,
Cristina Hurtado,
Paula Aranaz,
Francisco J. Novo,
José Luis Vizmanos
Publication year - 2014
Publication title -
biotechniques/biotechniques
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.617
H-Index - 131
eISSN - 1940-9818
pISSN - 0736-6205
DOI - 10.2144/000114180
Subject(s) - somatic cell , loss of heterozygosity , biology , genetics , germline , germline mutation , mutation , dna , allele , gene
When studying mutations in DNA samples, determining whether novel sequence changes are somatic mutations or germline polymorphisms can be difficult. Here we describe a novel and very simple approach for identification of somatic mutations and loss of heterozygosity (LoH) events in DNA samples where no matched tissue sample is available. Our method makes use of heterozygous polymorphisms that are located near the putative mutation to trace both germinal alleles.