A RAPID SCREENING METHOD FOR THE FACTOR-V ARG506-]GLN MUTATION

被引：112

作者：

GANDRILLE, S ^{[1
]}

ALHENCGELAS, M ^{[1
]}

AIACH, M ^{[1
]}

机构：

[1] HOP BROUSSAIS,HEMOSTASE LAB,F-75674 PARIS,FRANCE

来源：

BLOOD COAGULATION & FIBRINOLYSIS | 1995年 / 6卷 / 03期

关键词：

ACTIVATED PROTEIN C RESISTANCE; FACTOR V; GENETIC MUTATION; ASSAY METHODS;

D O I：

10.1097/00001721-199505000-00008

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

This study compared a rapid method to detect the nucleotide mutation 1691 G-->A, responsible for the factor V Arg506-->Gln substitution, with a previously established denaturing gradient gel electrophoresis (DGGE) technique in 136 patients with unexplained thrombosis. The new method comprises amplification of the factor V gene exon 10 with a modified oligonucleotide, permitting the introduction of a cleavage site for the restriction endonuclease HindIII in the fragments bearing the mutation. This simple, rapid, inexpensive and nonisotopic method gave the same results as the DGGE method in all subjects tested.

引用

页码：245 / 248

页数：4

共 18 条

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