Preimplantation genetic diagnosis for familial amyloidotic polyneuropathy (FAP)

• Type: Article in International Scientific Journal
• Date: 2001

Authors

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

Journal

Title: Prenatal Diagnosis

Vol. 21

Pages: 1093-1099

ISSN: 0197-3851

Publisher: Wiley-Blackwell

Indexing

ISI Web of Knowledge - 24 Citations

Scopus - 29 Citations

Other information

Authenticus ID: 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 7