Preimplantation genetic diagnosis of X-linked diseases examined by indirect linkage analysis
| Autor: | Inna Soldatova, L. Pecnova, J. Míka, M Putzova, D. Stejskal, Krautová L, I. Borgulová, P Potuznikova, R. Kren |
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| Rok vydání: | 2015 |
| Předmět: |
Adult
Male Economics and Econometrics Preimplantation genetic haplotyping Pregnancy Rate Genetic Linkage Fertilization in Vitro Biology Preimplantation genetic diagnosis Andrology Cohort Studies Genetic linkage Pregnancy Materials Chemistry Media Technology medicine Humans Preimplantation Diagnosis Czech Republic Retrospective Studies Genetics Multiple displacement amplification Reproducibility of Results Forestry Genetic Diseases X-Linked medicine.disease Embryo Transfer Embryo transfer Pregnancy rate STR analysis Haplotypes Mutation Female Nucleic Acid Amplification Techniques Microsatellite Repeats |
| Zdroj: | Europe PubMed Central |
| ISSN: | 0006-9248 |
| Popis: | Background Many centers of assisted reproduction in the Czech Republic offer preimplantation genetic diagnosis with fluorescent in situ hybridization (FISH) to couples requiring preimplantation genetic diagnosis (PGD) of X-linked diseases. However, this process results in discarding all male embryos and is not able to distinguish a carrier or healthy female embryo in X-linked recessive disorders. Objectives The main aim of this study was to summarize a six-year period of PGD of X-linked monogenic diseases using indirect linkage analysis. Methods and results We wanted to accentuate the advantage indirect analysis of PGD using multiple displacement amplification (MDA) followed by short tandem repeat (STR) analysis. We present forty-six PGD cycles, including pre-case haplotyping (PGH) panel, for fifteen X-linked diseases. Embryo transfer was made thirty-eight times and gravidity was confirmed in thirteen female probands with a success rate of pregnancy calculated at 42 %. Conclusions PGD procedure using MDA amplification followed by STR analysis provides help in identifying genetic defects within embryos prior to implantation. The reliability of the method was also supported by high pregnancy rate compared to other publications, which commonly achieved a 30-35 % success rate (Tab. 2, Fig. 1, Ref. 33). |
| Databáze: | OpenAIRE |
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