Objective: To study the allelic frequencies of protein C(PC) polymorphisms in Chinese Han population and thrombotic patients.
Methods: Two PC polymorphisms PC-1476A/T and PC3342T/G situated in exon 1 and exon 6 of PC were detected by PCR-SSCP silver stain. Ninty normal individuals and 105 patients with thrombosis were studied.
Results: The frequencies of PC-1476A/T in normal individuals were obviously different from in Caucasians (0.867/0.133, 0.4/0.6), whereas the frequencies of PC-3342T/G were similar in Chinese and Caucasians (0.60/0.40, 0.59/0.41). The frequency distributions of the two polymorphisms were consistent with the law of Hardy-Weinberg and were in the mode of linkage disequilibrium. The frequences of rare alleles PC-1476T and PC-3342G were higher in thrombotic patients (0.21 and 0.46) than in normal controls (0.13 and 0.40). PC-1476T was especially high in CHD patients (0.243) (P < or = 0.05).
Conclusion: These results suggest that the two polymorphisms may be one of the genetic related factors in venous and arterial thrombosis.