Article
First-trimester prenatal molecular diagnosis of infantile hypophosphatasia in a Japanese family.
Prenatal diagnosis - 1 Jun 1996
Orimo H, Nakajima E, Hayashi Z, Kijima K, Watanabe A, Tenjin H, Araki T, Shimada T
Abstract excerpt
We obtained a prenatal molecular diagnosis during the first trimester in a Japanese woman whose first child (the proband) had been a compound heterozygote for infantile hypophosphatasia. We examined chorionic villus DNA samples obtained at 10 weeks of gestation for the base substitutions detected...
Topics
- Alleles
- Chorionic Villi Sampling
- DNA
- Female
- Genotype
- Humans
- Hypophosphatasia
- Japan
- Nucleic Acid Hybridization
- Oligonucleotide Probes
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Polymorphism, Single-Stranded Conformational
- Pregnancy