Case report: first successful application of preimplantation genetic diagnosis for hereditary angiooedema Rosa Bautista-Llácer, Trinitat M. Alberola,

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Presentation transcript:

Case report: first successful application of preimplantation genetic diagnosis for hereditary angiooedema Rosa Bautista-Llácer, Trinitat M. Alberola, Xavier Vendrell, Esther Fernández, Manuel Pérez-Alonso Reproductive BioMedicine Online Volume 21, Issue 5, Pages 658-662 (November 2010) DOI: 10.1016/j.rbmo.2010.05.016 Copyright © 2010 Reproductive Healthcare Ltd. Terms and Conditions

Figure 1 Genealogical tree of the family requesting preimplantation genetic diagnosis for hereditary angiooedema. Arrow indicates the consultant patient. Question mark indicates unknown genetic status. Asterisks indicate family members involved in the informativity study. Reproductive BioMedicine Online 2010 21, 658-662DOI: (10.1016/j.rbmo.2010.05.016) Copyright © 2010 Reproductive Healthcare Ltd. Terms and Conditions

Figure 2 Preimplantation genetic diagnosis (PGD) cycle for hereditary angiooedema. (A) Position of the short tandem repeat markers (D11S1313, D11S1777 and D11S1298) with respect to the SERPING1 gene on chromosome 11. (B) Pedigree showing haplotypes of the family members involved in the informativity study and embryo haplotypes generated in the PGD cycle. The thick black line represents the hereditary angiooedema (HAE)-bearing haplotype. (C) Fragment analysis for the preimplantation genetic diagnosis of HAE. Electropherograms from the couple and embryos numbers 1 and 3 are shown. Numbers represent the fragment size. Numbers in bold and italics correspond to the HAE affected alleles for each marker (D11S1313, D11S1777 and D11S1298). ADO, allelic drop out. AF=amplification failure; cen=centromere; ET=embryo transfer; Mb=megabases; tel=telomere. Reproductive BioMedicine Online 2010 21, 658-662DOI: (10.1016/j.rbmo.2010.05.016) Copyright © 2010 Reproductive Healthcare Ltd. Terms and Conditions