![]() ![]() CONCLUSIONS: Single-cell sequencing is a helpful tool for preimplantation embryo profiling. Implantation of one of the normal embryos following by chorionic villus sampling at 11 th week of pregnancy indicated that the baby was free from c.1537G>A p.G513S mutation within the COL4A1 gene. RESULTS: Three out of 12 embryos interrogated in this study were found to be normal while 9 were found to harbor the mutation in heterozygous condition. Oligonucleotide primers bracketing the mutation were synthesized and used to amplify 162 base pairs (bp) polymerase chain reaction amplicons originating from each embryo which were subsequently sequenced to detect the presence or absence of the single base polymorphism. DNA extracted from isolated cells were subjected to whole genome amplification using an isothermal amplification and strand displacement technology. SUBJECTS AND METHODS: Processing of trophectoderm biopsies was done from twelve embryos for c.1537G>A p.G513S mutation within the COL4A1 gene. AIM: Screening of embryos free from c.1537G>A p.G513S mutation within the COL4A1 gene for which the father was known in before be in heterozygous condition. The technology helps in avoiding selective pregnancy termination since the baby is likely to be free of the disease under consideration. CONTEXT: Genetic profiling of embryos (also known as preimplantation genetic diagnosis) before implantation has dramatically enhanced the success quotient of in vitro fertilization (IVF) in recent times.
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