Fetal Genotyping in Maternal Blood by Digital PCR: Towards NIPD of Monogenic Disorders Independently of Parental Origin.

Purpose: To date, non-invasive prenatal diagnosis (NIPD) of monogenic disorders has been limited to cases with a paternal origin. This work shows a validation study of the Droplet Digital PCR (ddPCR) technology for analysis of both paternally and maternally inherited fetal alleles. For the purpose, single nucleotide polymorphisms (SNPs) were studied with the only intention to mimic monogenic disorders.

Erythrocyte ghost (Na+ + K+) ATPase activity in mice with hereditary muscular dystrophy (strain C57 BL/64J/dy).

Erythrocyte ghost (Na+ + K+) ATPase activity was studied in mice with hereditary muscular dystrophy (strain C 57 BL 6J/dy) and appropriate controls. No difference was observed in the enzymatic activity between dystrophic and any of the healthy genotypes. Ouabain 5 mM and 0.