Somatic mosaicism for copy-neutral loss of heterozygosity and DNA copy number variations in the human genome.

ABSTRACT:

Background

Somatic mosaicism denotes the presence of genetically distinct populations of somatic cells in one individual who has developed from a single fertilised oocyte. Mosaicism may result from a mutation that occurs during postzygotic development and is propagated to only a subset of the adult cells. Our aim was to investigate both somatic mosaicism for copy-neutral loss of heterozygosity (cn-LOH) events and DNA copy number variations (CNVs) in fully differentiated tissues.

Results

We studied panels of tissue samples (11-12 tissues per individual) from four autopsy subjects using high-resolution Illumina HumanOmniExpress-12 BeadChips to reveal the presence of possible intra-individual tissue-specific cn-LOH and CNV patterns. We detected five mosaic cn-LOH regions >5 Mb

SUBMITTER: Zilina O 

PROVIDER: S-EPMC4573927 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature