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Bratislava Medical Journal
Article . 2015 . Peer-reviewed
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Preimplantation genetic diagnosis of X-linked diseases examined by indirect linkage analysis

Authors: I, Borgulova; M, Putzova; I, Soldatova; L, Krautova; L, Pecnova; J, Mika; R, Kren; +2 Authors

Preimplantation genetic diagnosis of X-linked diseases examined by indirect linkage analysis

Abstract

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.The main aim of this study was to summarize a six-year period of PGD of X-linked monogenic diseases using indirect linkage analysis.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 %.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).

Keywords

Adult, Male, Pregnancy Rate, Genetic Linkage, Reproducibility of Results, Genetic Diseases, X-Linked, Fertilization in Vitro, Embryo Transfer, Cohort Studies, Haplotypes, Pregnancy, Mutation, Humans, Female, Nucleic Acid Amplification Techniques, Preimplantation Diagnosis, Czech Republic, Microsatellite Repeats, Retrospective Studies

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
4
Average
Average
Average
gold