title: [Rapid prenatal diagnosis of familial amyloidotic polyneuropathy using DNA amplification].
abstract: We have used in vitro DNA amplification by the polymerase chain reaction for prenatal diagnosis of familial amyloidotic polyneuropathy (FAP) in a German family. Fetus DNA was prepared from chorionic villus sampling and specific prealbumin DNA sequence that may carry FAP type I mutation was enzymatically amplified. The mutant prealbumin gene could be distinguished by direct DNA analysis with Nsi I using amplified DNA. This method is sufficiently sensitive and rapid that prenatal diagnosis of FAP can be done on the same day when fetal DNA is available.
authors.affiliation: First Department of Internal Medicine, Kumamoto University Medical School.
authors.forename: T
authors.initials: T
authors.lastname: Murakami
authors.forename: S
authors.initials: S
authors.lastname: Nishiguchi
authors.forename: S
authors.initials: S
authors.lastname: Maeda
authors.forename: K
authors.initials: K
authors.lastname: Shimada
authors.forename: S
authors.initials: S
authors.lastname: Araki
mesh_terms: D000686:Amyloidosis / Q000175:diagnosis* / Q000235:genetics; D004247:DNA; D004259:DNA-Directed DNA Polymerase; D005260:Female; D005784:Gene Amplification; D006801:Humans; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis* / Q000235:genetics; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
chemical_list: D004247:DNA; D004259:DNA-Directed DNA Polymerase