INGEBI 02650
INSTITUTO DE INVESTIGACIONES EN INGENIERIA GENETICA Y BIOLOGIA MOLECULAR "DR. HECTOR N TORRES"
Unidad Ejecutora - UE
artículos
Título:
F8 intron 22 inversions and SNP rs73563631 in unrelated families with severe haemophilia A: clinical features and gene testing implications.
Autor/es:
CURTO, MARÍA DE LOS ANGELES; DE BRASI CARLOS DANIEL; ROSSETTI LILIANA CARMEN; MARCHIONE VANINA DANIELA; ABELLEYRO MIGUEL MARTIN; RADIC CLAUDIA PAMLA
Revista:
THROMBOSIS AND HAEMOSTASIS
Editorial:
SCHATTAUER GMBH-VERLAG MEDIZIN NATURWISSENSCHAFTEN
Referencias:
Lugar: Stuttgart ; Año: 2016 vol. 115 p. 678 - 681
ISSN:
0340-6245
Resumen:
One in 5,000 human males worldwidesuffers from haemophilia A (HA), the commonestX-linked coagulopathy caused bydeleterious mutations in the factor VIIIgene (F8). Among them, intron 22 inversions(INV22) cause severe-HA (FVIII:C< 1 %) and result from non-allelic recombinationbetween homologs within F8 intron22 (int22h-1, or h1) and an extra-F8 Xqtelomericcopy (h2 or h3) (1, 2). Involvingh3, INV22 type I (INV22?1) causes 35 % ofsevere-HAs and involving h2, INV22 typeII (INV22?2), 7 % (3, 4).INV22 genotyping was initially achievedby BclI-Southern blot (2) and later on byrapid type-undefined approaches usinglong range-PCR (LR-PCR) and inverseshifting-PCR (IS-PCR) (5, 6).
