caa a22 4500 467984956 CHVBK 20180323112529.0 cr unu---uuuuu 170328e19901001xx s 000 0 eng 10.1007/BF00193586 doi (NATIONALLICENCE)springer-10.1007/BF00193586 Prenatal diagnosis of familial amyloidotic polyneuropathy: evidence for an early expression of the associated transthyretin methionine 30 [Elektronische Daten] [Maria Almeida, Isabel Alves, Yoshiuki Sakaki, Pedro Costa, Maria Saraiva] Summary: Transthyretin methionine 30 (TTR Met 30), which is associated with familial amyloidotic polyneuropathy, originates in a single base substitution (A for G) in the second exon of the TTR gene. This autosomal dominant disease can be diagnosed by RFLP analysis of NsiI-digested DNA. The amplification of DNA by PCR improves the diagnosis method, making it suitable for prenatal diagnosis. Using PCR-amplified DNA, prenatal diagnosis of two at-risk fetuses was performed. Control Met 30 and normal DNA (either genomic or produced by site directed mutagenesis) were processed in parallel. The diagnosis was made by hybridization with allele-specific oligonucleotide probes, and later confirmed by screening of the mutant protein in the amniotic fluid and, when possible, in the sera from the newborns. TTR Met 30 was detected in the amniotic fluid of a positive fetus whose father was the carrier of the mutation. This indicates that the mutant protein is expressed very early in development. Springer-Verlag, 1990 Almeida Maria Centro de Estudos de Paramiloidose, Instituto Nacional de Saúde, P-4000, Porto, Portugal aut Alves Isabel Centro de Estudos de Paramiloidose, Instituto Nacional de Saúde, P-4000, Porto, Portugal aut Sakaki Yoshiuki Research Laboratory for Genetic Information, Kiushu University, Maidashi, Fukuoka, Japan aut Costa Pedro Centro de Estudos de Paramiloidose, Instituto Nacional de Saúde, P-4000, Porto, Portugal aut Saraiva Maria Centro de Estudos de Paramiloidose, Instituto Nacional de Saúde, P-4000, Porto, Portugal aut Human Genetics Springer-Verlag 85/6(1990-10-01), 623-626 0340-6717 85:6<623 1990 85 439 https://doi.org/10.1007/BF00193586 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00193586 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Almeida Maria Centro de Estudos de Paramiloidose, Instituto Nacional de Saúde, P-4000, Porto, Portugal aut NATIONALLICENCE 700 1- Alves Isabel Centro de Estudos de Paramiloidose, Instituto Nacional de Saúde, P-4000, Porto, Portugal aut NATIONALLICENCE 700 1- Sakaki Yoshiuki Research Laboratory for Genetic Information, Kiushu University, Maidashi, Fukuoka, Japan aut NATIONALLICENCE 700 1- Costa Pedro Centro de Estudos de Paramiloidose, Instituto Nacional de Saúde, P-4000, Porto, Portugal aut NATIONALLICENCE 700 1- Saraiva Maria Centro de Estudos de Paramiloidose, Instituto Nacional de Saúde, P-4000, Porto, Portugal aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/6(1990-10-01), 623-626 0340-6717 85:6<623 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer