[Prenatal diagnosis of familial amyloidotic polyneuropathy].
Utilization of the in vitro DNA amplification method for prenatal diagnosis of familial amyloidotic polyneuropathy (FAP) in a German family was reported at the 1st symposium on FAP and other transthyretin related disorders, which was held in Granja, Portugal, in September 1989. Fetal DNA was prepared from chorionic villi and a part of the transthyretin (TTR) gene that may carry the FAP type I mutation was enzymatically amplified. The presence of the mutant TTR gene in fetal DNA was demonstrated by restriction analysis of the amplified DNA. Two other groups also reported prenatal diagnosis of FAP by polymerase chain reaction and restriction analysis.
Murakami
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First Department of Internal Medicine, Kumamoto University School of Medicine.
D000328:Adult; D017772:Amyloid Neuropathies / Q000175:diagnosis* / Q000235:genetics; D001483:Base Sequence; D017931:DNA Primers; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011228:Prealbumin / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis
D017931:DNA Primers; D011228:Prealbumin