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WFH 2016 World Congress

 

24-28 July 2016 Orlando
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Discussion forum - WFH 2016 World Congress
    Topic - Laboratory issues

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Poster: 101
Visits: 49
Title: A modified IS-PCR protocol for easy detection and interpretation of inversion 22 in severe haemophilia A
Authors: Clemence Merlen , Clemence Merlen, Virginie Dormoy-Raclet, Franoise Couture, Julie Gauthier, Georges-Etienne Rivard
Centre: CHU Sainte-Justine

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A MODIFIED IS-PCR PROTOCOL FOR EASY DETECTION AND INTERPRETATION OF INVERSION 22 IN SEVERE HAEMOPHILIA A

Clemence Merlen
Thread initiator
Subspeciality
Reg: 7/6/2016 6:41:00 PM
Comment# 1
Haemophilia A is the most common inherited bleeding disorder caused by mutations within the factor VIII gene (F8). A high rate of mutation has been reported. The molecular diagnosis is important for the management of subjects with this condition and useful for genetic counselling of at-risk family members.Inversion of intron 22 (Inv22) is a frequent mutation encountered in up to 45 of families with severe haemophilia A. Identification of Inv22 is challenging due to particular molecular characteristics of the F8 gene such as size of intron 22 (32.8 kb) and presence of GC rich sequence of 9.5 kb. Several methods have been developed to identify Inv22, such as Southern-blot, long distance-PCR (LD-PCR) and more recently inverse-shifting PCR (IS-PCR)1. IS-PCR is the most recent technique described for Inv22 genotyping, which is used to detect Inv22 type 1 (Inv22-1), type 2 (Inv22-2), int22h-mediated deletions (Del22) or duplications (Dup22) in subjects as well as in carriers2. We described herein a modification of the IS-PCR (mIS-PCR) to improve the precision and reliability of Inv22 detection.

Comment added on 7/6/2016 10:53:00 PM 
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