INVESTIGADORES
RADIC Claudia Pamela
artículos
Título:
Inverse shifting PCR based prenatal diagnosis of hemophilia-causative inversions involving int22h and int1h hotspots from chorionic villus samples
Autor/es:
CLAUDIA P. RADIC; LILIANA C. ROSSETTI; JOHANNA R. ZUCCOLI; MARTÍN M ABELLEYRO; IRENE B. LARRIPA; CARLOS D. DE BRASI
Revista:
PRENATAL DIAGNOSIS
Editorial:
Wiley InterScience
Referencias:
Año: 2009 p. 1183 - 1185
ISSN:
0197-3851
Resumen:
Almost one half of severe hemophilia A cases are caused by intron 22 (Inv22) and intron 1 (Inv1) factor VIII gene inversions worldwide. To improve the analysis of the presence of Inv22 and Inv1 from chorionic villus-extracted DNA samples, we applied a recently published approach, inverse shifting-PCR (IS-PCR). Prenatal diagnosis accomplished in two cases showed that IS-PCR is a robust and reliable tool to provide rapid information for genetic counseling for hemophilia-affected families.
