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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 1691G→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。
Objective To investigate the incidence of activated protein C resistance (APCR) and FV Leiden in patients with thrombosis and normal controls in Xinjiang. Methods 414 patients with normal physical examination (N) and 79 patients with cerebral infarction (CT) and 46 patients with myocardial infarction (MI) were studied. The APCR sensitivity ratio (n-APC-SR) APCR positive rate (<2.0 positive), FV Leiden mutation and prothrombin G20210A were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis and DNA sequence analysis. Analysis of the detection of a bit mutation. Results The incidence of APCR in normal control group was 6.28%. The incidence of APCR was 12%, 8.4%, 8.35% and 4.8% in Kazak, Uighur, Hui and Han nationality, respectively. The incidence of APCR in normal subjects was higher in Kazaks , And there was a significant difference in the incidence of APCR between ethnic minorities and Han (P <0.05). The incidence of APCR in patients with cerebral infarction was 11.39%, and the incidence of APCR in patients with myocardial infarction was 8.70%. The incidence of APCR between the two groups and the two groups was significantly different from that of the control group (P <0.05). No mutation of FV Leiden 1691G → A heterozygote and prothrombin G20210A mutation were detected in all groups. Conclusion APCR phenomenon in Xinjiang Minority nationalities have a higher incidence, its distribution and ethnic origin. FV Leiden was not detected, and prothrombin G20210A mutation was detected. Therefore, FV Leiden mutation is not a major risk factor for arterial thrombosis in Xinjiang population.