Trinucleotide repeat expansion

Multiple displacement amplification for preimplantation genetic diagnosis of fragile X syndrome

H. - S. Lee, Kim, M. J., Lim, C. K., Cho, J. W., Song, I. O., and Kang, I. S., Multiple displacement amplification for preimplantation genetic diagnosis of fragile X syndrome, vol. 10. pp. 2851-2859, 2011.

Preimplantation genetic diagnosis (PGD) has become an assisted reproductive technique for couples that have genetic risks. Despite the many advantages provided by PGD, there are several problems, including amplification failure, allele drop-out and amplification inefficiency. We evaluated multiple displacement amplification (MDA) for PGD of the fragile X syndrome. Whole genome amplification was performed using MDA. MDA products were subjected to fluorescent PCR of fragile X mental retardation-1 (FMR1) CGG repeats, amelogenin and two polymorphic markers.

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