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• W2095475204 abstract "It has been over two decades since the first preimplantation genetic diagnosis (PGD) for a monogenic disorder was performed [1], and methods have evolved to include a wide variety of techniques [2]. Among the most important advances was the incorporation of genotyping of linked informative markers near the mutation in order to avoid misdiagnosis from a phenomenon known as allele drop out (ADO). ADO occurs when two alleles are present, but the PCR-based test only detects one of the two, which can result in misdiagnosis of a monogenic disorder. However, by evaluating nearby linked informative polymorphisms, this type of error can be avoided since it is less likely to occur twice in the same test [2, 3].The most common type of polymorphism used as a linked marker in the PGD setting is the short tandem repeat (STR). One advantage of the STR is that it is often multi-allelic, providing a high likelihood of being informative for a given family. However, a potential disadvantage is the relatively low frequency of STRs throughout the human genome [4, 5]. This becomes an important issue as genotypes of markers too far away from the mutation could be misinterpreted as a result of recombination. Specifically, if recombination occurred between the marker and the mutation, the genotypes could be misinterpreted as consistent with an ADO event at one of the two loci. This is even more of a concern when genes near telomeres are evaluated since the recombination frequency is considerably higher than other regions on the chromosome [6, 7].In contrast to the STR, the single nucleotide polymorphism (SNP) is the most common polymorphism in the human genome, and therefore more likely to provide a marker within 1 Mb of the mutation, as recommended by the European Society for Human Reproduction and Embryology (ESHRE) PGD Consortium [2]. We recently reported the use of TaqMan PCR based allelic discrimination to genotype embryos for a single gene disorder in parallel with comprehensive chromosome screening [8]. This approach provides an opportunity to genotype SNPs as informative markers, instead of STRs, using a quantitative real time (q)PCR-based approach. This case report illustrates the particular advantage of qPCR, by identifying STR-based misdiagnoses due to recombination near the mutation." @default.
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• W2095475204 date "2014-08-07" @default.
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• W2095475204 title "Improved sensitivity to detect recombination using qPCR for Dyskeratosis Congenita PGD" @default.
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• W2095475204 doi "https://doi.org/10.1007/s10815-014-0298-9" @default.
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