POLYMORPHIC SITE STUDY AT CODON-347 OF APOLIPOPROTEIN-A-IV IN A JAPANESE POPULATION

In a population of Japanese subjects, we surveyed codon 347 of the apo lipoprotein (apo) A-IV gene and found that the frequency of a rare all ele at this point was extremely low compared to that in western popula tions. Only one of 850 unrelated samples showed mutation at the enzyme recognition site by agarose gel electrophoresis. However, direct sequ encing of the coding region revealed that it did not result from the A CT (Thr) to TCT (Ser) mutation which has been reported in western coun tries, but from an ACT to ACG (Thr) mutation, which does not affect th e primary structure of apo A-IV. Two additional family members showed the same point mutation at codon 347.