Genetic analysis of DNA from single human oocytes: A model for preimplantation diagnosis of cystic fibrosis
โ Scribed by C Coutelle; C Williams; A Handyside; K Hardy; R Winston; R Williamson
- Book ID
- 118889915
- Publisher
- Elsevier Science
- Year
- 1990
- Tongue
- English
- Weight
- 135 KB
- Volume
- 31
- Category
- Article
- ISSN
- 0020-7292
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Cystic fibrosis (CF) is an autosomal recessive disease characterized by obstruction and chronic infections of the respiratory tract and pancreatic insufficiency. The gene was cloned in 1989 and the most frequent mutation was shown to be the delta F508 mutation. During PGD, embryos obtained in vitro
The combination of in vitro fertilization (IVF) with PCR technologies enables diagnosis of single gene defects for preimplantation genetic diagnosis. This has been accomplished by two-step nested PCR, or PEP-PCR followed by nested PCR processes. To improve the detection of single cell genetic defect