Article
Single intragenic microsatellite preimplantation genetic diagnosis for cystic fibrosis provides positive allele identification of all CFTR genotypes for informative couples.
Molecular human reproduction - 1 Mar 2001
Eftedal I, Schwartz M, Bendtsen H, Andersen A N, Ziebe S
Abstract excerpt
This study is part of a strategy aimed at using fluorescent polymerase chain reaction (PCR) on informative genetic microsatellite markers as a diagnostic tool in preimplantation genetic diagnosis (PGD) of severe monogenic disease. Two couples, both of whom had previously had children who were compound heterozygote for severe cystic fibrosis mutations, were offered PGD using fluorescent PCR of the highly...
Topics
- Alleles
- Blastocyst
- Blastomeres
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA
- Female
- Genotype
- Humans
- Male
- Microsatellite Repeats
- Pedigree
- Polymerase Chain Reaction
- Pregnancy
- Preimplantation Diagnosis
- Treatment Outcome