Article
Genotyping the hemophilia inversion hotspot by use of inverse PCR.
Clinical chemistry - 1 Jul 2005
Rossetti Liliana Carmen, Radic Claudia Pamela, Larripa Irene Beatriz, De Brasi Carlos Daniel
Abstract excerpt
BACKGROUND: Factor VIII intron 22 inversions (Inv22) cause 40%-45% of severe cases of hemophilia A in all human populations. Currently, Inv22 can be analyzed either by Southern blotting or by rapid long-distance-PCR-based approaches. We describe an alternative method using inverse-PCR (I-PCR). METHODS: I-PCR involved 3 steps: (a) BclI restriction; (b) self-ligation of restriction fragments, providing BclI rings;...
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