K. Kristjansson et al., PREIMPLANTATION SINGLE-CELL ANALYSES OF DYSTROPHIN GENE DELETIONS USING WHOLE GENOME AMPLIFICATION, Nature genetics, 6(1), 1994, pp. 19-23
Primer extension preamplification (PEP) increases the scope and capaci
ty of single cell genetic diagnosis by generating sufficient template
to perform multiple subsequent DNA analyses using the polymerase chain
reaction. We report the simultaneous analysis of single cells at five
commonly deleted dystrophin exons and at the ZFX/ZFY loci. Ninety thr
ee percent of PEP reactions with single amniocytes, chorionic villus c
ells and blastomeres were successful, and a blinded analysis of single
lymphoblasts from affected males resulted in 93% diagnostic accuracy,
demonstrating its applicability in preimplantation prevention of Duch
enne muscular dystrophy. Transfer of unaffected male embryos and impro
ved diagnostic reliability are achieved with the ability to perform re
plicate multilocus analyses from the same blastomere.