Pre-implantation Genetic Diagnosis (PGD)

    Mr & Ms Mus have white fur, and desire offspring with black fur. Both are heterozygous (Aa) for an allele (a) at a locus that when homozygous (aa) results in offspring with black fur. The allelic difference is detectable with an ASO test. The parents seek genetic counseling. Ova from Ms Mus are extracted and fertilized with sperm from Mr Mus in vitro. several early-stage blastulae (blastocysts) are extracted from her and maintained in cell culture. A single cell from each embryo is extracted and its DNA analyzed with the ASO test. Three-quarters of the embryos are expected to be either homozygous AA (top) or heterozygous Aa (bottom); they are discarded. Approximately one-quarter of the embryos are homozygous aa (middle) and will have black fur. One of these is re-implanted in Ms Mus and allowed to develop to term.

    No "genetic engineering" has been employed. The zygotes were produced by in vitro fertilization, a common procedure. The ASO screen identified naturally-occurring variation, and gave the parents a choice at a very early stage of development. In humans, Pre-implantation Genetic Diagnosis is currently available for a number of serious, single-locus genetic diseases.
Diagnosis is made at the ~100 cell blastula stage, while the cells are still pluripotent (able to differentiate into any tissue type).

    See the 1997 movie
GATACCA for a discussion of the implications.


Figure modified after ©2000 Griffith et al.; all text material ©2024 by Steven M. Carr