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New technique makes it easier to test for genetic conditions

BMJ 2006; 332 doi: https://doi.org/10.1136/bmj.332.7556.1471 (Published 22 June 2006) Cite this as: BMJ 2006;332:1471

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  1. Susan Mayor
  1. London

    A technique has been developed that makes it easier to test embryos for inherited mutations. It also decreases the chances that parents who are at risk of serious genetic diseases have an affected baby via in vitro fertilisation, according to results reported this week at a conference in the Czech Republic.

    The technique—preimplantation genetic haplotyping—looks for “genetic fingerprints,” which match gene regions in a parent or other family member who is known to have a genetic disorder. This is simpler than the current technique of preimplantation genetic diagnosis, which searches for specific mutations and is generally restricted to diseases with a common mutation—for example, the DF508 mutation for cystic fibrosis.

    The number of diseases that the current technique can screen for is limited to about 200 of the more common genetic conditions because the assays are time consuming, requiring the development of single cell mutation tests specific to each family.

    The new approach overcomes these limitations by …

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