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Absence of linkage between type III protein S deficiency and the PROS1 and
C4BP genes in families carrying the protein S Heerlen allele
Y Espinosa-Parrilla, M Morell, JC Souto, M Borrell, D Heine-Suner, I Tirado, V Volpini, X Estivill and N Sala
Departament de Genetica Molecular, Institut de Recerca Oncologica,
Barcelona, Spain.
To elucidate the molecular basis of hereditary protein S (PS) deficiency
and, in particular, type III or free PS deficiency, the allelic
distribution and segregation patterns of the PS gene (PROS1) polymorphisms
P626A/G and S460P (PS Heerlen) have been analyzed in a group of 45
proposita suffering from type I or type III PS deficiency. No differences
between patients and controls were found in the frequency of the P626A/G
alleles. By contrast, the frequency of the PS Heerlen allele in the group
of patients with type III PS deficiency (9 of 46 chromosomes, P = .196) was
significantly higher (P < .001) than in the control group (1 of 300
chromosomes, P = .003). The A allele of P626A/G was always associated with
the P allele of S460P. However, this haplotype did not co-segregate with
the type III PS-deficient phenotype in 3 of the families. Furthermore,
multipoint linkage analysis excluded the whole PROS1 gene in 1 of these
families, which is in agreement with the absence of mutations in the PROS1
gene, as determined by sequence analysis. Finally, linkage analysis with 4
microsatellite markers linked to the C4BPB and C4BPA loci also excluded
these two genes. From these results we conclude that, at least in some
families, the molecular basis of type III PS deficiency is not due to the
Mendelian inheritance of a single defect in the PROS1 or in the C4BP genes.
Volume 89,
Issue 8,
pp. 2799-2806,
04/15/1997
Copyright © 1997 by The American Society of Hematology
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