Preimplantation genetic diagnosis of leukocyte adhesion deficiency type I Filomenamila Lorusso, M.D., Dewen Kong, M.D., Ahmad Kamal Abdul Jalil, M.Sc., Camille Sylvestre, M.D., Seang Lin Tan, M.D., Asangla Ao, Ph.D. Fertility and Sterility Volume 85, Issue 2, Pages 494.e15-494.e18 (February 2006) DOI: 10.1016/j.fertnstert.2005.03.092 Copyright © 2006 American Society for Reproductive Medicine Terms and Conditions
FIGURE 1 Preimplantation genetic diagnosis for G400A and C562T mutations in the ITGB2 gene. (A) Schematic representation of the heminested polymerase chain reaction (PCR) for simultaneous amplification of the maternal G400A and paternal C562T mutations in the ITGB2 gene. A(i) shows the site of G400A mutation on exon 4 and of C562T on exon 5. The black arrows indicate the position of primers. A(ii) shows the restriction map of the AvaII site on exon 4 and the BcgI site on exon 5, with expected product sizes. (B) Detection of G400A and C562T mutations by restriction fragment length polymorphism. (C) Short tandem repeat D21S11 profile, with number of repeats from the three family members. Lorusso. PGD of LAD-1. Fertil Steril 2006. Fertility and Sterility 2006 85, 494.e15-494.e18DOI: (10.1016/j.fertnstert.2005.03.092) Copyright © 2006 American Society for Reproductive Medicine Terms and Conditions