Preimplantation genetic diagnosis of P450 oxidoreductase deficiency and Huntington Disease using three different molecular approaches simultaneously

Abstract

Purpose Description of the confluence of different molecular techniques to detect three different mutations in one cell. The man carries a 20 base pair insertion in exon 12 of the POR gene (c.1551_1552ins20), and the woman carries a point mutation in exon 8 of the POR gene (c.859G>C) plus a triplet repeat expansion in the HTT gene.

Case report: birth of healthy twins after preimplantation genetic diagnosis of propionic acidemia

“…Fourteen single blastomeres were studied by PCR. IVF, embryo culture and biopsy procedures were performed according to previously described protocols [14].…”

Identification of Novel Microsatellite Markers <1 Mb from the HTT CAG Repeat and Development of a Single-Tube Tridecaplex PCR Panel of Highly Polymorphic Markers for Preimplantation Genetic Diagnosis of Huntington Disease

“…Out of the 13 panel markers, 6 have been previously reported and used successfully in PGD (11)(12)(13)(14)(15)19 ). The remaining 7 markers (HD2098407, HD2362117, HD2417179, HD3139793, HD3377975, HD3615631, and HD3829173), each possessing a PIC value Ͼ0.5, are novel.…”

Birth of a healthy boy after PGD for X-linked heterotaxy syndrome

“…After thawing, 23 zygotes survived and 15 cleaving embryos were available for biopsy on day +3. Biopsy procedures were performed according to previously described protocols [1].…”