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Polymerase chain reaction-based detection of chromosomal imbalances on embryos: the evolution of preimplantation genetic diagnosis for chromosomal translocations Francesco Fiorentino, Ph.D., Georgia Kokkali, M.Sc., Anil Biricik, M.Sc., Dimitri Stavrou, M.D., Bahar Ismailoglu, B.Sc., Rosangela De Palma, M.D., Ph.D., Lucia Arizzi, B.Sc., Gary Harton, B.Sc., Mariateresa Sessa, Ph.D., Kostantinos Pantos, M.D., Ph.D. Fertility and Sterility Volume 94, Issue 6, Pages e6 (November 2010) DOI: /j.fertnstert Copyright © 2010 American Society for Reproductive Medicine Terms and Conditions
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Figure 1 Capillary electrophoresis of fluorescent polymerase chain reaction (PCR) products obtained from a preimplantation genetic diagnosis case for Robertsonian translocation (13;14), after multiplex amplification of a set of polymorphic short tandem repeat (STR) markers located along chromosome 14. The x-axis shows the length of PCR products in base pair and the y-axis shows the fluorescence intensity in relative fluorescence units. On top of the electropherogram the marker name is located above the corresponding alleles (peaks). A normal diploid embryo (C) has the normal complement of each parental chromosome, thus two alleles of a chromosome-specific STR are determined as two peaks. Embryos with a normal copy number for a given chromosome will show a heterozygous pattern for all the STRs used. The observation of an extra STR allele as a three peak pattern is diagnostic of the presence of an additional sequence, which represents an additional chromosome, as in the case of a trisomy. Trisomic embryos will produce trisomic patterns for all markers on the same chromosome (B). The observation of only one STR allele as a one peak pattern is diagnostic of the missing of the sequence from one chromosome, as in the case of a monosomy. Monosomic embryos will show a homozygote pattern for all the STRs used for a given chromosome (A). Fertility and Sterility , e6DOI: ( /j.fertnstert ) Copyright © 2010 American Society for Reproductive Medicine Terms and Conditions
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Figure 2 Uniparental disomy (UPD) detection on embryos from a preimplantation genetic diagnosis case for Robertsonian translocation (13;14), by using the polymerase chain reaction (PCR)-based preimplantation genetic diagnosis protocol for detection of chromosomal imbalances. The x-axis shows the length of PCR products in base pair and the y-axis shows the fluorescence intensity in relative fluorescence units. On top of the electropherogram the marker name is located above the corresponding alleles (peaks). For the chromosome 14 STR markers, the embryo (A) inherited alleles only from one parent (B) and failed to inherit an allele from the other (C), consistent with UPD14. Highlighted in blue are maternal alleles. Fertility and Sterility , e6DOI: ( /j.fertnstert ) Copyright © 2010 American Society for Reproductive Medicine Terms and Conditions
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