PREIMPLANTATION GENETIC HAPLOTYPING IN GENETICALLY RISK FAMILIES Abstract of Irena Borgulova's PhD study Page 1/1 ABSTRACT Preimplantation genetic diagnosis (PGD) is at the intersection of assisted reproduction and clinical genetics. PGD precedes prenatal diagnosis because consists in biopsy of a single embryonic cell and its examination excluding genetic risks before embryo transfer back to mother uterus. Methods within PGD can offer all spectrums of possible investigations of a single cell, whether focused on monogenic disorders, chromosomal aberration or abnormality of whole genome. Monogenic diseases in embryos can be detected by direct or indirect linkage analysis. Indirect linkage analysis has the advantage compared to direct analysis that it is able to indentify pertinent aberration of examined chromosome. Indirect linkage analysis is characterised by preimplantation genetic haplotyping (PGH) which is prime and important constituent of PGD cycle. PGH is based on family anamnesis for determination of pathologic/ high-risk (mutation-associated) haplotype and healthy/ low-risk (without mutation) haplotype by comparison with the haplotypes of other family members. PGD cycle requires in vitro fertilisation (IVF). IVF cycle includes hormonal stimulation, biopsy of oocytes and their fertilisation outside...
| Identifer | oai:union.ndltd.org:nusl.cz/oai:invenio.nusl.cz:384054 |
| Date | January 2018 |
| Creators | Borgulová, Irena |
| Contributors | Macek, Milan, Trávník, Pavel, Veselá, Kateřina |
| Source Sets | Czech ETDs |
| Language | Czech |
| Detected Language | English |
| Type | info:eu-repo/semantics/doctoralThesis |
| Rights | info:eu-repo/semantics/restrictedAccess |
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