Eighteen Years of Molecular Genotyping the Hemophilia Inversion Hotspot: From Southern Blot to Inverse Shifting-PCR

International Journal of Molecular Sciences

Liliana C. Rossetti¹  Claudia P. Radic²  Miguel M. Abelleyro²  Irene B. Larripa² 

[1] Departamento de Genética, Instituto de Investigaciones Hematológicas, Academia Nacional de Medicina, Pacheco de Melo 3081, Ciudad de Buenos Aires (CP 1425), Argentina;

关键词: F8;    HEMA;    intron 22 inversions;    IS-PCR;    LD-PCR;   

DOI  :  10.3390/ijms12107271

来源: mdpi

【 摘 要 】

The factor VIII gene (F8) intron 22 inversion (Inv22) is a paradigmatic duplicon-mediated rearrangement, found 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 that have been developed for genotyping the Inv22 (and related int22h rearrangements) since discovery in 1993. The sequence— Southern blot, long distance-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.

【 授权许可】

CC BY   
© 2011 by the authors; licensee MDPI, Basel, Switzerland.