Improved single-cell protocol for preimplantation genetic diagnosis of spinal muscular atrophy  Philippe Burlet, Ph.D., Nelly Frydman, D.Pharm., Nadine Gigarel, B.Sc., Jean Paul Bonnefont, M.D., Violaine Kerbrat, B.Sc., Gérard Tachdjian, M.D., René Frydman, M.D., Arnold Munnich, M.D., Julie Steffann, M.D., Pierre F. Ray, Ph.D.  Fertility and Sterility  Volume 84, Issue 3, Pages 734-739 (September 2005) DOI: 10.1016/j.fertnstert.2005.03.054 Copyright © 2005 American Society for Reproductive Medicine Terms and Conditions

FIGURE 1 Gel electrophoresis showing products from single cells amplified with (A) primers described in van der Steege et al. (13) and (B) our modified protocol. Lane 1 shows an undigested sample; lane 2 an amplified cell from a control individual showing only SMN1 copies, lane 3 an amplified cell from a control individual showing SMN1 and SMN2 digestion products; lane 4 an amplified cell from an SMN1-deleted patient showing only SMN2. Burlet. Improved PCR-based PGD test for SMA. Fertil Steril 2005. Fertility and Sterility 2005 84, 734-739DOI: (10.1016/j.fertnstert.2005.03.054) Copyright © 2005 American Society for Reproductive Medicine Terms and Conditions

FIGURE 2 SMN1 and SMN2 exon 7 wild-type (Wt) or modified (mod.) sequences. Boldface letters indicate modified nucleotide by the amplification-created restriction site PCR. Arrows represent the primers used in this study: (a) inner forward primer; (b) forward primer described in van der Steege et al. (13); (c) inner reverse primer. Boxed nucleotides indicate the Dra I enzyme restriction sites. Burlet. Improved PCR-based PGD test for SMA. Fertil Steril 2005. Fertility and Sterility 2005 84, 734-739DOI: (10.1016/j.fertnstert.2005.03.054) Copyright © 2005 American Society for Reproductive Medicine Terms and Conditions