[Rapid prenatal diagnosis of familial amyloidotic polyneuropathy using DNA amplification].
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.
Murakami
T
T
First Department of Internal Medicine, Kumamoto University Medical School.
Nishiguchi
S
S
Maeda
S
S
Shimada
K
K
Araki
S
S
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*
D004247:DNA; D004259:DNA-Directed DNA Polymerase