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Report for Clinical Trial NCT02359747

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Analysis of Human Genomic DNA in Embryo's Culture Media Targeting on a Single Gene Disease and Point Mutations

try to find genomic DNA in culture medium after the embryos develop on Day 3 and Day 5 also in single step culture media. using direct PCR Polymerase Chain Reaction and also WGA Whole Genome Amplification before PCR and sequencing of the samples to find the point mutation

NCT02359747 Single-Gene Disease

1 Interventions

Name: Polymerase Chain Reaction and Whole Genome Amplification

Type: Genetic
Group Labels: 1

In Vitro Fertilization treatment

Primary Outcomes

Measure: genomic DNA in culture medium (pg)

Time: 1 year

Secondary Outcomes

Description: amplification of point mutation with PCR (polymerase chain reaction)

Measure: amplification of point mutation

Time: 1 year

Time Perspective: Retrospective


There is one SNP


1 C677T

Quantification will be made with a standard curve constructed with genomic DNA (with culture media -day 3 and day5-, to take into account media inhibitory effects) TSPY1 amplification will be use to assess the presence of Y chromosome WGA followed by PCR on a single copy gene (MTHFR gene) will be performed on a subset of some samples to monitor the C677T polymorphism (genotyping by sequencing) WGA followed by PCR on a single copy gene (MTHFR) will be also performed on blastocoele fluids --- C677T ---

HPO Nodes