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Detection of the apolipoprotein B-100 arg (3500) > gl mutation in familial defective apoB-100 by temperature-gradient gel electrophoresis

Koch, M.; Pfohl, M.; Enderle, M.; Schnauder, G.; Seif, F.J.

Zeitschrift für Gastroenterologie 34(Suppl 3): 16-18

1996

ISSN/ISBN: 0044-2771
PMID: 8767448
Document Number: 459933
Familial defective apolipoprotein B-100 (FDB) is caused by a point mutation in exon 26 of the apolipoprotein B gene leading to a decreased binding to the LDL-receptor. Patients with FDB have hypercholesterolemia and atherosclerotic disease. Since other mutations of apoB-100 could also cause binding abnormalities we established a temperature-gradient gel electrophoresis (TGGE) method and started to screen hypercholesterolemic patients for the presence of point mutations in this region. 4 of 43 patients were positive according to TGGE and subsequent sequencing showed the familiar guanine to adenine transition in codon 3500 in all cases.

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