[Contribution of molecular biology to the diagnosis of familial hypercholesterolemias in children].
The detection of children at high risk in families with a genetic form of hypercholesterolemia is important for acceptance of prevention under medical control. However, usual lipidic parameters are difficult to interpret during infancy. So we studied by a molecular biology approach 11 families presenting with syndrome of pure hypercholesterolemia where a defect of the LDL receptor (LDL-R) gene was suspected (Familial Hypercholesterolemia: FH IIa). Markers of the LDL-R gene (Restriction Fragment Length Polymorphism RFLP) were studied with intragenic probes. The segregation of the abnormal gene was studied in each family. Our results illustrate the limits of such an approach (its heaviness and the fact that, in 2 families, the analysis was not informative), but also its advantages: indeed, in 8 families, the diagnosis was established (particularly in one case at birth). Moreover in 2 families the LDL-R abnormality was excluded. In such case, as an alternative, the hypothesis of an apo B abnormality was envisaged. This differential diagnosis is interesting since it permits the choice of an adequate treatment.
Laboratoire de Biochimie A, CHRU Grenoble.
F
F
Tricot-Guerber
K
K
Valenti
B
B
Lafeuillade
S
S
Pradines
T
T
Foulon
M
M
Bost
A J
AJ
Hadjian
D000293:Adolescent; D000367:Age Factors; D002648:Child; D002675:Child, Preschool; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis* / Q000235:genetics; D008967:Molecular Biology / Q000379:methods; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length
Apport de la biologie moléculaire au diagnostic des hypercholestérolémies familiales chez l'enfant.