[Application of bidimensional electrophoresis in the determination of genetic variants].
Study of the polymorphism of human plasma proteins presents a major advantage in clinical biology to discover abnormal or rare forms, associated with risks or involved with well-specified pathological conditions. If this polymorphism corresponds to structural differences causing a variation of the isoelectric point (Ip) or the molecular weight, it is easily visualized with bidimensional electrophoresis, starting with a few microliters of plasma. On a single mapping per patient, we were able to establish the frequency of various isoforms of Gc globulin, transferrin, haptoglobin, alpha-1-antitrypsin and apolipoproteins E as well as A-IV, in a Lorraine population consulting for a health check-up. This method has already enabled us to demonstrate the effect of polymorphic apolipoproteins on the cholesterol and triglycerides level: patients carrying the epsilon 2 allele of the Apo E, have a mean cholesterol level which is lower than that of the carriers of allele epsilon 3. Patients carrying allele epsilon 4 have the highest mean cholesterol level.
Steinmetz
J
J
Laboratoire du Centre de Médecine Préventive, UA CNRS n. 597, Vandoeuvre-les-Nancy.
Lepage
L
L
Visvikis
S
S
Schiele
F
F
Galteau
M M
MM
D001798:Blood Proteins / Q000235:genetics*; D004586:Electrophoresis; D004591:Electrophoresis, Polyacrylamide Gel; D006801:Humans; D007525:Isoelectric Focusing; D011110:Polymorphism, Genetic
D001798:Blood Proteins
Application de l'électrophorèse bidimensionnelle à la détermination des variants génétiques.