A Girardet, C Fernandez, M Claustres Reproductive BioMedicine Online

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Presentation transcript:

Rapid and powerful decaplex and dodecaplex PGD protocols for Duchenne muscular dystrophy A Girardet, C Fernandez, M Claustres Reproductive BioMedicine Online Volume 19, Issue 6, Pages 830-837 (December 2009) DOI: 10.1016/j.rbmo.2009.09.023 Copyright © 2009 Reproductive Healthcare Ltd. Terms and Conditions

Figure 1 Pedigree and haplotype analysis of the three Duchenne muscular dystrophy (DMD) families for whom preimplantation genetic diagnosis (PGD) was performed. PND, prenatal diagnosis. Dot in figure represents carrier woman. Blackened squares are affected males. The numbers in short tandem repeat markers represent the size of polymerase chain reaction products in base pairs. ‘−’ represent deleted alleles and ‘+’ are normal alleles. N pat and N mat correspond to paternal and maternal normal dystrophin haplotypes, respectively. Del represents dystrophin deletion haplotype. Reproductive BioMedicine Online 2009 19, 830-837DOI: (10.1016/j.rbmo.2009.09.023) Copyright © 2009 Reproductive Healthcare Ltd. Terms and Conditions

Figure 2 Results obtained following amplification of single lymphocytes and blastomeres in family A. Lane M: mother; lane F: father; lanes 1, 4 and 7: embryos. Lane 1 is a non-carrier female embryo, lane 4 is an unaffected male embryo and lane 7 is an affected male embryo showing absence of the peaks corresponding to exons 9, 21 and 4, as well as 5′-5n4 and 5′-7n4 markers. Amplicons are labelled with 6-carboxy fluorescein (6-FAM) (channel 1) and 6-carboxyhexafluorescein (HEX) (channel 2) fluorescent dyes. STR, short tandem repeat. Reproductive BioMedicine Online 2009 19, 830-837DOI: (10.1016/j.rbmo.2009.09.023) Copyright © 2009 Reproductive Healthcare Ltd. Terms and Conditions