Gynaecology Research Today is a free monthly online journal that collates and summarizes the latest research about Gynaecology, including details on pap smears, laparoscopy, ultrasound, hysteroscopy. | ||||||||
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Preimplantation genetic diagnosis of X-linked adrenoleukodystrophy with gender determination using multiple displacement amplification.Lledó B, Bernabeu R, Ten J, Galán FM, Cioffi L Bernabeu Institute of Fertility and Gynecology, Alicante, Spain. blledo@institutobernabeu.com OBJECTIVE: To evaluate the use of multiple displacement amplification (MDA) for whole genome amplification in the preimplantation genetic diagnosis (PGD) of X-linked adrenoleukodystrophy. DESIGN: MDA was used to amplify the whole genome directly from a single blastomere. MDA products were used for polymerase chain reaction (PCR) analysis of two polymorphic markers flanking the ABCD1 gene and a new X/Y marker, X22, to sex embryos in an X-linked adrenoleukodystrophy PGD program. SETTING: Fertility and gynecology private center in Alicante, Spain. PATIENT(S): A couple in which the wife is a carrier of the ABCD1 gene mutation (676A-->C) that was previously identified in her family. INTERVENTION(S): MDA of single blastomere and PCR tests for PGD. MAIN OUTCOME MEASURE(S): The ability to analyze single blastomeres for X-linked adrenoleukodystrophy using MDA. RESULT(S): The development of an MDA-PGD protocol for X-linked adrenoleukodystrophy allowed for the diagnosis of five embryos. These were biopsied on day 3 of culture and analyzed. One embryo was an affected male and one embryo was a female carrier. Three healthy female embryos were transferred 48 hours after biopsy. Unfortunately, no pregnancy was achieved. CONCLUSION(S): The MDA technique is useful for overcoming the problem of insufficient genomic DNA in PGD and allows the simultaneous amplification of different targets to perform a diagnosis of any known gene defect and a sexing test by standard methods and conditions. Published 9 November 2007 in Fertil Steril, 88(5): 1327-33.
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