Multiple genetic diagnoses from single cells using multiplex PCR: Reliability and allele dropout

We used a multiplex fluorescent PCR system containing seven primer sets on single cells from three different cell types (buccal, corneal and blastomer e cells) and more than 3500 heterozygous alleles to investigate reliability and extent of allele dropout in multiplex PCRs at the single cell level. A ll three cell types gave similarly high reliability, accuracy and allele dr opout rates, with similar reliability between singleplex and multiplex PCRs . Allele dropout was also consistent between the three cell types and did n ot significantly increase as allele size increased. These results indicate that multiplex fluorescent PCR is a reliable and acc urate method of obtaining multiple diagnosis (eight chromosomes simultaneou sly) from single cells and maximizes the information available from single cell analysis. Copyright (C) 1998 John Wiley & Sons, Ltd.