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 strand-specific fluorescent dyes reliably detects sequence changes in DNA fragments of up to 1.5 kb and locates them precisely. This method was successfully used for the detection of three new dysfibrinogenemias: Poissy III, Tahiti (heterozygous Aalpha Arg16His) and Saint-Germain I (heterozygous AalphaGly12Val). The mutations were confirmed by dideoxy sequencing.
Mathonnet
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Laboratoire de Biochimie et Biologie Moléculaire, Hopital R. Poincare, F92380 Garches, France.
Peltier
J Y
JY
Roda
L
L
de Raucourt
E
E
D'Hailly
F
F
Tetegan
M
M
Catherine
N
N
Vinatier
I
I
de Mazancourt
P
P
D000328:Adult; D019943:Amino Acid Substitution; D002675:Child, Preschool; D020147:Coagulation Protein Disorders / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D015241:Fibrinogens, Abnormal / Q000032:analysis* / Q000737:chemistry / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA
D015241:Fibrinogens, Abnormal; C447414:fibrinogen Poissy III; C447420:fibrinogen Saint-Germain I; C447419:fibrinogen Tahiti