Preimplantation genetic diagnosis for familial amyloidotic polyneuropathy (FAP)

• Tipo: Artigo em Revista Científica Internacional
• Data: 2001

Autores

carvalho, f (Autor) FMUP; sousa, m (Autor) ICBAS; Fernandes, S (Autor) Outra; Silva, J (Autor) Outra; Maria Joao Saraiva (Autor) ICBAS; barros, a (Autor) FMUP

Revista

Título: Prenatal Diagnosis

Vol. 21

Páginas: 1093-1099

ISSN: 0197-3851

Editora: Wiley-Blackwell

Indexação

ISI Web of Knowledge - 24 Citações

Scopus - 29 Citações

Outras Informações

ID Authenticus: P-000-SNJ

DOI: 10.1002/pd.250

Abstract (EN): Preimplantation genetic diagnosis (PGD) was developed more than a decade ago to offer an alternative to prenatal diagnosis for couples at risk of transmitting an inherited disease to their offspring. Portuguese-type familial amyloidotic polyneuropathy (FAP type I), is an autosomal dominant disease presenting an inherited mutation in the gene encoding the plasma protein transthyretin (TTR). We here report the first protocol for single-cell detection of the Met30 mutation in FAP type I and its application to PGD. A nested PCR reaction for exon 2 of the TTR gene was developed. The PCR product was then analysed by :restriction enzyme analysis and SSCP allowing the detection of the point mutation. Ten clinical cycles were performed in seven couples. From the 93 metaphase II (MII) injected oocytes, 82 were normally fertilized and 78 were biopsied. A positive signal in the nested PCR reaction was obtained in 61 blastomeres, corresponding to a DNA amplification efficiency of 78.2%. No allele dropout (ADO) or contamination were detected. A biochemical pregnancy was obtained in three cases and a clinical pregnancy in one couple is actually in normal evolution. Copyright (C) 2001 John Wiley & Sons, Ltd.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 7