Prenatal diagnosis of familial amyloidotic polyneuropathy: evidence for an early expression of the associated transthyretin methionine 30

• Type: Article in International Scientific Journal
• Date: 2004

Authors

almeida, mr (Author) Other; alves, il (Author) Other; sakaki, y (Author) Other; costa, pp (Author) Other; saraiva, mjm (Author) Other

Journal

Title: Human Genetics

Vol. 85

Pages: 623-626

ISSN: 0340-6717

Publisher: Springer Nature

Indexing

ISI Web of Knowledge

Scopus - 29 Citations

Other information

Authenticus ID: P-007-4ZV

DOI: 10.1007/bf00193586

Abstract (EN): 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. © 1990 Springer-Verlag.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 4