蛋白C基因多态性在正常人和血栓病人的分布频率

Frequency of protein c polymorphisms in chinese population and thrombotic patients

目的探讨蛋白Ｃ基因多态性在中国正常人和血栓病人的分布情况。方法用聚合酶链式反应－单链构型多态性银染法分析了蛋白Ｃ（ＰＣ）的第一、六外显子的两个多态性：ＰＣ－１４７６Ａ／Ｔ和ＰＣ－３３４２Ｔ／Ｇ，检测了９０名汉族正常人和１０５例血栓病人。结果ＰＣ－１４７６Ａ／Ｔ的基因分布频率在正常人为０．８６７／０．１３３，与西方人群（０．４／０．６）明显不同（Ｐ＜０．００５），而ＰＣ－３３４２Ｔ／Ｇ的分布频率在中西方人非常接近，分别为０．６０／０．４０和０．５９／０．４１；两多态性基因频率分布符合Ｈａｒｄｙ－Ｗｅｉｎｂｅｒｇ平衡定律，且连锁不平衡。ＰＣ－１４７６Ａ／Ｔ和ＰＣ－３３４２Ｔ／Ｇ的少见等位基因ＰＣ－１４７６Ｔ和ＰＣ－３３４２Ｇ在血栓病人的分布频率分别为０．２１和０．４６，高于在正常人群的分布频率（０．１３和０．４０）。结论此两ＰＣ基因多态性可能是动静脉血栓的遗传性相关因素。

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 ≤0.05). Conclusion These results suggest that the two polymorphisms may be one of the genetic related factors in venous and arterial thrombosis.