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Strategies for preimplantation genetic diagnosis of single gene disorders by DNA amplification

✍ Scribed by Dagan Wells; Jon K. Sherlock

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 223 KB
Volume: 18
Category: Article
ISSN: 0197-3851
DOI: 10.1002/(sici)1097-0223(199812)18:13<1389::aid-pd498>3.0.co;2-6

No coin nor oath required. For personal study only.

✦ Synopsis

Preimplantation genetic diagnosis (PGD) is an alternative to prenatal diagnosis for ensuring the genetic health of offspring born to families affected by inherited disease. This paper sets out to review current protocols for the diagnosis of single gene defects in human preimplantation embryos. These methods, which depend on DNA amplification using PCR, are subject to a variety of pitfalls, such as allele dropout (ADO), contamination and reduced amplification efficiency. Advances in single cell DNA amplification, such as improved multiplex PCR protocols, fluorescent-PCR and whole genome amplification (WGA), can be applied to address some of these problems. Different PGD strategies are discussed in the context of their clinical application.

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