Parekh H.,University of Rajasthan |
Dashora P.,University of Rajasthan |
Acharya A.,SN Gene Laboratory |
Vaniawala S.,SN Gene Laboratory |
And 2 more authors.
Research Journal of Pharmaceutical, Biological and Chemical Sciences | Year: 2015
Cell free DNA (cfDNA) is now emerging as potent biomarker in cancer diagnostics as well as an useful tool for non-invasive diagnostic methods related to a wide range of clinical conditions. Its extraction from blood is crucial to exploitation as a biomarker. Link of cfDNA has been established with a wide range of health conditions including autoimmune diseases, sepsis and trauma, heart diseases and dialytic processes. However, its utility in prenatal diagnosis has been one of the most widely investigated areas of research. Association of cfDNA with cancer and its methylation status as a potent prognostic marker is also assuming increasing significance in recent times. Its association with different forms of cancer with special reference to breast cancer is notable. A doubtful mammographic findings does indicate other testing that involve imaging techniques but the final diagnosis is established by a biopsy in particular to differentiate malignant from benign tumors. Although this is an established process that has considerably reduced mortality, several lacunae indicate the need for superior prognostic and diagnostic markers. In these contexts, cfDNA has been discussed in this review.
PubMed | Akanksha Hospital and Research Institute and SN Gene Laboratory
Type: Journal Article | Journal: Journal of human reproductive sciences | Year: 2016
Genetic profiling of embryos (also known as preimplantation genetic diagnosis) before implantation has dramatically enhanced the success quotient of 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.Processing of trophectoderm biopsies was done from twelve embryos for c.1537G>A; p.G513S mutation within the COL4A1 gene. DNA extracted from isolated cells were subjected to whole genome amplification using an isothermal amplification and strand displacement technology. 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.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. Implantation of one of the normal embryos following by chorionic villus sampling at 11Single-cell sequencing is a helpful tool for preimplantation embryo profiling. This is the first report from India describing the birth of a normal child through IVF procedure where a potential pathogenic COL4A1 allele was avoided using this technology.