Home Bratislava Medical Journal 2015 Bratislava Medical Journal Vol.116, No.9, p.542–546, 2015

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Published Monthly, in English
Founded: 1919
ISSN 0006-9248
(E)ISSN 1336-0345

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Bratislava Medical Journal Vol.116, No.9, p.542–546, 2015

Title: Preimplantation genetic diagnosis of X-linked diseases examined by indirect linkage analysis
Author: I. Borgulova, M. Putzova, I. Soldatova, L. Krautova, L. Pecnova, J. Mika, R. Kren, P. Potuznikova, D. Stejskal

Abstract: 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).

Keywords: indirect diagnosis, X-linked inheritance, single gene mutation, haplotype analysis.
Published online: 28-Sep-2015
Year: 2015, Volume: 116, Issue: 9 Page From: 542, Page To: 546
doi:10.4149/BLL_2015_103


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