Multiplex sequence variation detection throughout the CFTR gene appropriate for preimplantation genetic diagnosis in populations with heterogeneity of cystic fibrosis mutations.

Abstract excerpt

Cystic fibrosis (CF) is one of the most important genetic diseases requiring prevention programmes. Preimplantation genetic diagnosis (PGD) represents an alternative to prenatal diagnosis, and is especially appropriate for couples with an unsuccessful reproductive history. For clinical application, protocols must be optimized to minimize PCR failure, allelic drop-out (ADO) and contamination, while simultaneously...

Topics

• Cystic Fibrosis
• Cystic Fibrosis Transmembrane Conductance Regulator
• Exons
• Female
• Genetic Variation
• Genotype
• Heterozygote
• Humans
• Lymphocytes
• Mutation
• Pregnancy
• Preimplantation Diagnosis