[Frequency of protein C polymorphisms in Chinese population and thrombotic patients].
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).


CONCLUSIONS
These results suggest that the two polymorphisms may be one of the genetic related factors in venous and arterial thrombosis.
Zheng
Y
Y
Central Lab, Xiangya Hospital, Hunan Medical University, Changsha.
Zhou
B
B
Pu
X
X
D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D044466:Asian People; D002544:Cerebral Infarction / Q000235:genetics; D002648:Child; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D011486:Protein C / Q000235:genetics*; D013923:Thromboembolism / Q000235:genetics*; D020246:Venous Thrombosis / Q000235:genetics
D011486:Protein C