The 3′ Hypervariable VNTR-Locus APO B: Three Different Analysing Methods Revealing Different Alleles and Large Family Studies

Summary

Separation of polymerase chain reaction (PCR) amplification of the Apo B 3′- VNTR was carried out on horizontal, 4%, denaturing polyacrylamide(PAA)/piperazindiacrylamide(PDA)-gels crosslinked with 3% C using a discontinuous buffer system, providing an efficient typing system. Furthermore we compared three different electrophoretic systems and proved that in several samples, alleles showed a completely different migration velocity in agarose- and PAA-gels. Fifteen different alleles containing 14–53 repeats of the basic 15-bp unit were distinguished in a population study of 220 individuals from 38 northwest-portuguese families. For population studies the Hardy-Weinberg-equilibrium was checked by forming groups of phenotypes and no significant deviation could be found. Family studies confirmed the formal conception of an autosomal codominant type of inheritance. Two children of one family showed a new mutation to allele 49 on the condition of their legitimacy.