O-141: Preimplantation genetic diagnosis for new cases of single gene mutations - using “reverse linkage” for colnfirming the mutation status of embryos

Abstract

Linkage analysis, first described in tracking Cystic Fibrosis gene mutations 20 years ago, can also be applied to track single gene defects from parents to their embryos. Genetic PGD cases usually combine mutation detection and linkage analysis in a family where primary relatives with the mutation are used to identify a linked polymorphism pattern. This information is required before offering PGD. Combining linkage confirmation with direct mutation testing gives confidence in the accuracy of the analysis, given the problems of allele dropout and differential amplification often associated with the amplification of extremely low amounts of target DNA.