Allelic drop-out and preferential amplification in single cells and human blastomeres: implications for preimplantation diagnosis of sex and cystic fibrosis.

Abstract excerpt

Previously the diagnosis of sex and cystic fibrosis status has been studied on single cells using the polymerase chain reaction (PCR). It has been suggested that allelic drop-out (PCR failure of one allele) and/or preferential amplification (hypo-amplification of one allele) may contribute to poor reliability and misdiagnosis, although this remains controversial as some reports suggest that allelic drop-out does...

Topics

• Alleles
• Blastomeres
• Cystic Fibrosis
• Cystic Fibrosis Transmembrane Conductance Regulator
• Female
• Humans
• Male
• Mouth Mucosa
• Polymerase Chain Reaction
• Reproducibility of Results