Peptide-nucleic acid-mediated enriched polymerase chain reaction as a key point for non-invasive prenatal diagnosis of beta-thalassemia.
Haematologica
; 93(4): 610-4, 2008 Apr.
Article
em En
| MEDLINE
| ID: mdl-18326525
ABSTRACT
The presence of fetal DNA in maternal plasma can be exploited to develop new procedures for non-invasive prenatal diagnosis. Tests to detect 7 frequent beta-globin gene mutations in people of Mediterranean origin were applied to the analysis of maternal plasma in couples where parents carried different mutations. A mutant enrichment amplification protocol was optimized by using peptide nucleic acids (PNAs) to clamp maternal wild-type alleles. By this approach, 41 prenatal diagnoses were performed by microelectronic microchip analysis, with total concordance of results obtained on fetal DNA extracted from chorionic villi. Among these, 27/28 were also confirmed by direct sequencing and 4 by pyrosequencing.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Diagnóstico Pré-Natal
/
Reação em Cadeia da Polimerase
/
Talassemia beta
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Ácidos Nucleicos Peptídicos
/
Doenças Fetais
/
Transfusão Feto-Materna
Tipo de estudo:
Diagnostic_studies
/
Guideline
Limite:
Adult
/
Female
/
Humans
/
Male
/
Pregnancy
Idioma:
En
Revista:
Haematologica
Ano de publicação:
2008
Tipo de documento:
Article
País de afiliação:
Itália