Article
Prenatal diagnosis of cystic fibrosis in a highly heterogeneous population.
Prenatal diagnosis - 1 Mar 1996
Casals T, Gimenez J, Ramos M D, Nunes V, Estivill X
Abstract excerpt
Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasian populations. The Spanish CF population is highly heterogeneous, with more than 70 different mutations causing CF. Since the CFTR gene was cloned, we have performed 81 prenatal diagnoses for 74 couples. Sixty-nine cas...
Topics
- Amniotic Fluid
- Chorionic Villi
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA, Satellite
- Female
- Fetal Diseases
- Genes, Recessive
- Genetics, Population
- Genotype
- Heterozygote
- Humans
- Pedigree
- Point Mutation
- Polymorphism, Restriction Fragment Length
- Pregnancy
- Pregnancy Trimester, First
- Pregnancy Trimester, Second