allele dropout
Failure to amplify one allele during PCR, potentially causing misdiagnosis in genetic testing.
Full Definition
Allele dropout is a technical artifact that occurs during polymerase chain reaction (PCR) when one of two alleles fails to amplify, resulting in the appearance of homozygosity when the sample is actually heterozygous. This phenomenon can lead to misdiagnosis in genetic testing, particularly in preimplantation genetic testing and single-cell analysis. Allele dropout can be caused by poor DNA quality, primer binding site mutations, or technical factors during amplification.
Usage
Usage note: Two words, not hyphenated as a noun.
In Context
- "Quality control measures were implemented to minimize allele dropout in PGT procedures." — Laboratory validation report
- "The apparent homozygosity was later confirmed to be due to allele dropout." — Genetic testing analysis