摘要: Loss of heterozygosity (LOH) is a genetic event frequently observed in many cancer types. The loss one allele locus can have multiple possible functional effects including haploinsufficiency, gene expression and being the second ‘hit’ that unmasks recessive tumour suppressor gene. LOH be caused by mitotic errors, chromothripsis, conversion inappropriate repair DNA (deoxyribonucleic acid) breaks. methods for detecting are evolving from single assays such as microsatellite analysis, to accurate sensitive genome-wide single-nucleotide polymorphism arrays massively parallel sequencing. an important tool aid discovery novel genes now gaining importance biomarker clinical decision making certain contexts. Key Concepts Loss common whereby lost, leading part genome appearing homozygous where heterozygous matching normal DNA. Allelic imbalance different LOH: both alleles still present but numbers copies. Regions copy number neutral or show loss. Whole-chromosome nondisjunction. Defects homologous recombination lead increased levels cancer. The two-hit hypothesis describes inactivation copies cancer; hit. Haplo-insufficiency cannot perform its function normally when only likely reason selection some events. Keywords: loss heterozygosity; polymorphism; chromosome instability; tumour gene; cancer genomics
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