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Identification of 15 different candidate causal point mutations and three
polymorphisms in 19 patients with protein S deficiency using a scanning
method for the analysis of the protein S active gene
S Gandrille, D Borgel, V Eschwege-Gufflet, M Aillaud, M Dreyfus, C Matheron, P Gaussem, JF Abgrall, B Jude and P Sie
INSERM CJF 91-01, UFR des Sciences Pharmaceutiques et Biologiques, Paris,
France.
To screen for point mutations causing protein S deficiency, we used a
sequence of techniques specifically for the study of the protein S active
gene, PS alpha. This strategy comprises amplification of exons and
intron/exon junctions by means of the polymerase chain reaction (PCR) and
electrophoresis of the amplified fragments in polyacrylamide gel containing
a gradient of denaturing agents (denaturing gradient gel electrophoresis).
Only fragments with altered melting behavior are sequenced after asymmetric
PCR. Beside the frequent polymorphism already described on Pro 626, we
detected 18 different sequence variations by studying exons II, IV, V,
VIII, X, and XV in 19 of 100 consecutive patients with protein S
deficiency. Fifteen were candidate causal mutations, 4 of which were
associated with a qualitative deficiency (type IIa or IIb). The remaining
three sequence variations were probably polymorphisms.
Volume 85,
Issue 1,
pp. 130-138,
01/01/1995
Copyright © 1995 by The American Society of Hematology
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