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