Marfan Syndrome Research Today is a free monthly online journal that collates and summarizes the latest research about Marfan Syndrome, including details on genetics, causes, symptoms, treatment. | ||||||||
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Preimplantation genetic diagnosis of Marfan syndrome using multiple displacement amplification.Lledó B, Ten J, Galán FM, Bernabeu R Bernabeu Institute of Fertility and Gynecology, Alicante, Spain. belen.lledo@ua.es OBJECTIVE: To evaluate the use of multiple displacement amplification (MDA) for whole-genome amplification in the preimplantation genetic diagnosis (PGD) of Marfan syndrome. DESIGN: Multiple displacement amplification was used to amplify the whole-genome directly from a single cell. The MDA product was used for polymerase chain reaction (PCR) analysis of five different loci. At this point MDA was used to develop a PGD-Marfan syndrome program. SETTING: Fertility and gynecology private center in Alicante, Spain. PATIENT(S): A couple in which the husband is affected by Marfan syndrome and carries a novel mutation in the FBN-1 gene. INTERVENTION(S): The MDA of single cells and PCR tests for PGD. MAIN OUTCOME MEASURE(S): Allele drop-out (ADO), amplification efficiency rates, and the ability to detect Marfan syndrome using MDA. RESULT(S): We report that isothermal whole-genome amplification from single cells allowed analysis of five different loci using standard conditions. The development of a MDA-PGD protocol for Marfan syndrome allowed for the diagnosis of seven embryos. These were biopsied on day 3 of culture and analyzed. Two healthy embryos were transferred 48 hours after culture, resulting in a singleton ongoing pregnancy and the birth of a healthy child. CONCLUSION(S): The MDA technique is useful for overcoming the problem of insufficient genomic DNA in PGD. The use of MDA as a universal step marks a new cycle for PGD as it allows for the diagnosis of any known gene defect by standard methods and conditions. Published 9 October 2006 in Fertil Steril, 86(4): 949-55.
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