Dr Igor N. Lebedevi külalisseminar

Teema: “Molecular karyotyping of human blastocysts by using blastocentesis”
Aeg ja koht: reede, 11.11.16, kl 10:15, Omicum, Riia 23b/1, auditoorium 105

Dr Igor N. Lebedev, Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Science, Tomsk, Russia

Summary of the seminar

The discovery of cell free DNA in the blastocoele fluid provides new additional source of information about the karyotype of embryo cells on preimplantation stages of development. In addition, new expectations arisen for the solution of key problem of preimplantation genetic diagnosis of chromosomal diseases, which is related to chromosomal mosaicism. The origin of cell free DNA is usually associated with cell apoptosis. Therefore, there is a possibility that the cells with abnormal karyotype undergo apoptosis. However, it remains unclear which cells form the main pool of cell free DNA. It is expected that the analysis of cell free DNA makes it possible to integrate the karyotype of cells from different germ layers, increasing the probability of detection of chromosomal mosaicism. In our study, we focused on the comparative analysis of the molecular karyotypes of cells from trophectoderm, inner cell mass and cell free DNA by using aCGH and NGS. The preliminary results of this comparative molecular karyotyping will presented. First, the analysis of cell free DNA increases the probability of detection of mosaicism. Second, the molecular karyotyping of cell free DNA provides possibility to detection of mitotic errors in chromosome segregation leading to chromosomal mosaicism. At last, preliminary results indicate that cell free DNA may be of value for preimplantation genetic diagnosis of chromosomal disorders, but only as an additional method, along with traditionally used trophectoderm biopsy.

Lisainfo: Professor Ants Kurg (ants.kurg@ut.ee)