Restriction fragment length polymorphism caused by a deletion involving Alu sequences within the human .alpha.2-plasmin inhibitor gene

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Abstract
A restriction fragment length polymorphism within the human .alpha.2-plasmin inhibitor gene has been detected by Southern blot hybridization using an .alpha.2-plasmin inhibitor cDNA probe. This restriction fragment length polymorphism can be attributed to the presenceof two alleles, A and B, that are distributed in Hardy-Weinberg equilibrium with frequencies of 73.5% and 2.65%, respectively, in 66 unrelated Caucasian individuals or with frequencies of 51.0% and 49.0%, respectively, in 50 unrelated Japanese individuals. The minor allele, B, is due to a deletion of about 720 base pairs in intron 8 of the .alpha.2-plasmin inhibitor gene. Sequence analysis of the deletion junction in allele B and the corresponding regions of allele A demonstrated the presence of oppositely oriented Alu sequences at the 5'' and 3'' deletion boundaries. These data suggest that this restriction fragment length polymorphism was caused by intrastrand recombination between Alu sequences.