Prenatal diagnosis of hereditary amyloidosis in a Portuguese family living in France.
Portuguese type amyloidosis is an autosomal dominant condition caused by a mutation in the transthyretin gene. This mutation can be detected directly by the presence of a restriction site for NsiI. We report here our first prenatal diagnosis for this condition performed by chorionic villus sampling, polymerase chain reaction, and restriction enzyme digestion.
Lucotte
G
G
Centre Régional de Neurogénétique, CHU de Reims, France.
Berriche
S
S
David
F
F
Rouquet
H
H
Turpin
J C
JC
D017772:Amyloid Neuropathies / Q000175:diagnosis / Q000235:genetics*; D015193:Chorionic Villi Sampling; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005260:Female; D005602:France; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D009154:Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D011174:Portugal / Q000208:ethnology; D011228:Prealbumin / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis
D011228:Prealbumin