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Multiple polymorphic sites in factor X locus

HJ Hassan, R Guerriero, C Chelucci, A Leonardi, G Mattia, G Leone, G Mariani, PM Mannucci and C Peschle

Department of Hematology, Istituto Superiore di Sanita, Rome, Italy.

The structure of factor X (FX) gene was analyzed in five FX deficient pedigrees with four different variants of the disease, as well as in 50 normal subjects. Genomic DNA from the deficient patients and the normal controls was digested with 12 restriction endonucleases and hybridized with a FX cDNA probe. The results seemingly exclude gross gene deletions or rearrangements in the deficient patients. A variety of polymorphic sites (ie, EcoRI, HindIII, PstI, PvuII, TaqI) was observed within the FX locus and their relative frequency was established. Intriguingly, a highly polymorphic region for the PvuII endonuclease was identified and located approximately 3 kilobases (kb) from the last 3' exon. These polymorphisms allowed us to analyze the allelic segregation in a FX deficient family and to identify a homozygous subject.

Volume 71, Issue 5, pp. 1353-1356, 05/01/1988
Copyright © 1988 by The American Society of Hematology


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  Copyright © 1988 by American Society of Hematology         Online ISSN: 1528-0020