Three new cases of dysfibrinogenemia Poissy III, Saint-Germain I and Tahiti

In order to identify unknown mutations, the FAMA method was used to rapidly screen the fibrinogen chain genes in individuals with dysfibrinogenemias. Chemical cleavage at mismatches on heteroduplexes DNA end-labeled with stra nd-specific fluorescent dyes reliably detects sequence changes in DNA fragm ents of up to 1.5 kb and locates them precisely. This method was successful ly used for the detection of three new dysfibrinogenemias: Poissy III, Tahi ti (heterozygous A alpha Arg16His) and Saint-Germain I (heterozygous A alph a Gly12Val). The mutations were confirmed by dideoxy sequencing. (C) 2001 E lsevier Science Ltd. All rights reserved.