Genome-Wide Karyomapping for Detecting Cystic Fibrosis in Embryos

Filed in archive Diagnostics, Methodologies and Instrumentation , Genomics, Proteomics and Bioinformatics on June 30, 2009

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In the 25th annual meeting of the European Society of Human Reproduction and Embryology in Amsterdam, scientists report of an embryo test that can screen for cystic fibrosis as well as aneuploidy. According to the researchers, genome-wide karyomapping simultaneously detects inheritance of both single gene defects and chromosomal abnormalities at the single cell level.

With karyomapping it is not necessary to know the exact DNA mutation that is being sought; the scientists just need to take the relevant chunk of DNA from the parent that carries the mutation somewhere along its length, and if it matches a chunk of DNA from the embryo, then they know the embryo has inherited the mutation. As karyomapping involves analysing chromosomes, it also detects the existence of aneuploidy at the same time.

"The range of applications is broad and includes single gene defects, abnormal chromosome number, structural chromosome abnormalities and HLA [human leukocyte antigen] matching in 'saviour sibling' cases," said Mr Harton.

"The hope is that clinicians will be able to test embryos for specific genetic diseases and know that, with one test, they are transferring chromosomally normal embryos. This will be a step forward from current technology that is mostly limited to choosing one test or the other," explained Prof Handyside.

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