A new polymorphism in the human factor VIII gene: implications for linkage analysis in haemophilia A and for the evolution of int22h sequences

Bowen, Derrick John, De Brasi, C. D., Larripa, I. B. and Collins, Peter William ORCID: https://orcid.org/0000-0002-6410-1324 2000. A new polymorphism in the human factor VIII gene: implications for linkage analysis in haemophilia A and for the evolution of int22h sequences. British Journal of Haematology 111 (2) , pp. 544-548. 10.1111/j.1365-2141.2000.02373.x

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Abstract

A new polymorphism in the human factor VIII gene has been localized and characterized. It is a biallelic, single nucleotide polymorphism located in intron 22 of the gene, within the 9·5 kb int22h-1 segment. The allelic forms are G (frequency 0·65) and A (frequency 0·35), giving a predicted rate of heterozygosity of 0·46. The polymorphism occurs within a CG dinucleotide and affects an MspI site (CCGG). Int22h-1 is duplicated twice extragenically at Xq28; both extragenic copies (int22h-2 and -3) are also polymorphic with respect to MspI. Investigation of 156 MspI [–] alleles, comprising 30 intragenic and 126 extragenic sites, indicated that all were due to A alleles and none had arisen by C to T transition within the CG dinucleotide. The intragenic MspI site (designated MspI A) is located 737 bases downstream of a previously described XbaI restriction fragment length polymorphism. Despite their close proximity, the polymorphisms are not in complete linkage disequilibrium; haplotype analysis in 85 factor VIII genes from a Caucasian population predicts an informativity of approximately 60% in linkage studies using both, compared with an informativity of approximately 47% in studies using either on its own.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine Systems Immunity Research Institute (SIURI)
Subjects:	R Medicine > R Medicine (General)
Uncontrolled Keywords:	Haemophilia A; Polymorphism; Linkage analysis; Intron 22; Int22h sequences.
Publisher:	Wiley-Blackwell
ISSN:	0007-1048
Last Modified:	04 Jan 2023 02:13
URI:	https://orca.cardiff.ac.uk/id/eprint/57307

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