Screening for familial defective APOB-100 in Chinese

Objective:To screen apolipoprotein B-100 mutation in Chinese with hypercholesterolemia. Methods:A segment of APOB gene from nucleotide 10549 to 10895 was amplified by PCR. The PCR protucts was denatured and bybridized with specific aligonucleotide labed with digoxigenin to detect the APOB gene mutation 3531CGC→CGT.Results:362 cases of hypercholesterolemia was screened, but not a single proband was detected.Conclusion:This genetic mutation is unlikely to exist, or rare in GuangZhou population.