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.
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