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.

Abstract:

: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.

journal_name

Blood

journal_title

Blood

authors

Gandrille S,Borgel D,Eschwege-Gufflet V,Aillaud M,Dreyfus M,Matheron C,Gaussem P,Abgrall JF,Jude B,Sie P

subject

Has Abstract,Author List Incomplete

pub_date

1995-01-01 00:00:00

pages

130-8

issue

1

eissn

0006-4971

issn

1528-0020

journal_volume

85

pub_type

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