Efficient strategies for preimplantation genetic diagnosis of spinal muscular atrophy  Anne Girardet, Ph.D., Céline Fernandez, B.Sc., Mireille Claustres, M.D., Ph.D.  Fertility and Sterility  Volume 90, Issue 2, Pages 443.e7-443.e12 (August 2008) DOI: 10.1016/j.fertnstert.2007.07.1305 Copyright © 2008 American Society for Reproductive Medicine Terms and Conditions

Figure 1 Results obtained after amplification of single lymphocytes and blastomeres using multiplex A protocol. (A) Exon 7 results after DraI restriction analysis. Lane 1: DNA size marker (1-kb ladder, GIBCO BRL, Grand Island, NY). Lane 2: undigested PCR product (235 bp). Lanes 3 and 4: results obtained after amplification of single lymphocytes from father and affected daughter, respectively. Lanes 5 and 6: two blastomeres from an unaffected embryo (E1); the 202-bp and 176-bp bands correspond to SMN1 and SMN2 exon 7, respectively. Lane 7: an affected embryo (E6) showing only the SMN2 exon 7-corresponding band. (B) Exon 8 results after DdeI restriction analysis. Lane 1: DNA size marker (1-kb ladder, GIBCO BRL). Lane 2: undigested PCR product (287 bp). Lanes 3 to 7: the same single cells presented in (A). The 287-bp and 234-bp bands correspond to SMN1 and SMN2 exon 8, respectively. (C) D5S629 results. Lanes 1, 2, and 3: results obtained after amplification of single lymphocytes from mother, father, and affected daughter, respectively. Lanes 4 and 5: results of the two blastomeres from embryo E1. Lane 6: result obtained from embryo E6. (D) D5S610 results. Lanes 1 to 6: the same single cells presented in (C). Lane 6: allele dropout of the paternal allele is clearly visible. Fertility and Sterility 2008 90, 443.e7-443.e12DOI: (10.1016/j.fertnstert.2007.07.1305) Copyright © 2008 American Society for Reproductive Medicine Terms and Conditions