新疆地区动脉血栓形成患者抗活化蛋白C及FV Leiden突变的调查

目的研究抗活化蛋白C（activated protein C resistance，APCR）现象和FV Leiden在新疆正常人群、血栓患者中的发生情况。方法对414例正常体检者（N）和79例脑梗死患者组（CT）及46例心肌梗死患者组（MI），用APCR法进行APCR敏感比（n—APC—SR）（〈0．68）和APCR阳性率（〈2．0为阳性）测定，用多聚酶链反应-限制性内切酶长度多态性（PCR—RFLP）分析及DNA序列分析对以上标本APCR阳性者做FV Leiden突变和凝血酶原G20210A位基因突变的检测的分析。结果APCR发生率正常对照组为6．28％，其APCR发生率在哈萨克族、维吾尔族、回族、汉族中分别是12％、8．4％、8．35％及4．8％，正常人APCR发生率在哈萨克族较高，且各少数名族与汉族APCR发生率差异有统计学意义（P〈0．05）。脑梗死病例组的APCR发生率为11．39％，心肌梗死病例组的APCR发生率为8．70％；两组间以及两组APCR发生率分别与对照组比较差异有统计学意义（P〈0．05）。各组人群中均未检出FV Leiden 1691 G—A突变杂合子以及凝血酶原G20210A位基因突变。结论APCR现象在新疆地区正常人少数民族中有较高的发生率，其分布与人种、地域有关。未检出FV Leiden，和凝血酶原G20210A位突变。因此，FV Leiden突变不是新疆地区人群动脉血栓发病的主要危险因素.

Incidences of APC Resistance and Factor V Leiden Mutation in Patients with Artery Thrombophilia in Xingjiang District

Objective Incidences of activated protein C （APC） resistance in patients with artery thrombosis in Xingjiang District were studied. Methods APCR sensitiveness ratios （n-APC-SR） （below 0. 68） were estimated in 414 normal subjects, 79 Cerebral infarct patients and 46 the patients with myocardial infarction by Dahlback＇s method . F V Leiden gene mutation and F Ⅱ G20210A gene mutation were detected by using APCR amplification with sequence-specific primers and restriction enzyme digestion. Results The APCR frequence of the patients in Ischemic stroke and Myocardial Infarct were significantly higher than those in healthy controls （11.39 %, 8.70 % and 6.28%, respectively）,The APCR frequence of the patients in Ischemic stroke was significantly higher than those of Myocardial Infarct. （P 〈 0.05 ）. The APCR frequence of Uyger, Kazaks, Hui and han nation healthy people respectively was 12% ,8.4% ,8.35% 及 4.8% . No F V Leiden 1691G-Amutation and F Ⅱ G20210A gene mutation were found in the human of XingJiang. Conclusion APCR and FV Leiden mutation varied in different regions and races. FV Leiden gene mutation was not an main factor in the pathogenesis of thrombophilia.