INVESTIGADORES
DE BRASI Carlos Daniel
artículos
Título:
Eighteen years of genotyping the hemophilia inversion hotspot. From Southern blot to inverse shifting-PCR.
Autor/es:
LILIANA C. ROSSETTI ; CLAUDIA P. RADIC ; MIGUEL M. ABELLEYRO ; IRENE B. LARRIPA ; CARLOS D. DE BRASI
Revista:
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Editorial:
MOLECULAR DIVERSITY PRESERVATION INTERNATIONAL-MDPI
Referencias:
Lugar: Basel; Año: 2011 vol. 12 p. 7271 - 7271
ISSN:
1422-0067
Resumen:
The factor VIII gene (F8) intron 22 inversion (Inv22) is a paradigmatic duplicon-mediated rearrangement involved in about one half of patients with severe hemophilia A worldwide. The identification of this prevalent cause of hemophilia was delayed for nine years after the F8 characterization in 1984. The aim of this review is to present the wide diversity of practical approaches for Inv22 (and other int22h rearrangements) genotyping developed since its discovery in 1993. The sequence - Southern blot, long range-PCR and inverse shifting-PCR - for Inv22 genotyping is an interesting example of scientific ingenuity and evolution in order to resolve challenging molecular diagnostic problems.
