Specific analysis of the intron 22 XbaI polymorphism of the human factor VIII gene using long-distance PCR

De Brasi, C. D., Bowen, Derrick John, Collins, Peter William ORCID: https://orcid.org/0000-0002-6410-1324 and Larripa, I. B. 1999. Specific analysis of the intron 22 XbaI polymorphism of the human factor VIII gene using long-distance PCR. British Journal of Haematology 107 (3) , pp. 566-568. 10.1046/j.1365-2141.1999.01731.x

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Abstract

A rapid, non-radioactive, PCR-based method to genotype the XbaI restriction fragment length polymorphism of the human factor VIII gene is described. The method uses long-distance PCR followed by XbaI restriction digestion and agarose gel electrophoresis. The 6.6 kb amplification product includes a constant XbaI site, which provides a digestion control. The specificity of the method was challenged by a blind experiment with 16 genomic DNA samples previously genotyped by Southern blot analysis: a perfect correlation was obtained between genotypes determined using Southern blot and PCR.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Schools > Medicine Research Institutes & Centres > Systems Immunity Research Institute (SIURI)
Subjects:	R Medicine > R Medicine (General)
Uncontrolled Keywords:	Genetics; Haemophilia A; Factor VIII gene; XbaI restriction fragment length polymorphism; Long-distance PCR.
Publisher:	Wiley-Blackwell
ISSN:	0007-1048
Last Modified:	04 Jan 2023 02:13
URI:	https://orca.cardiff.ac.uk/id/eprint/57305

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