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目的 探讨凝血因子 XⅢ (FXⅢ )基因 Va134Leu突变与中国人群脑出血发病的相关关系。方法 利用等位基因特异性聚合酶链反应技术分析了 150例原发性脑出血病人和 150例非脑卒中对照组 FXⅢ基因的基因型位点频率。结果 在所研究的人群中发现了 4例 FXⅢ基因 Val34Leu突变的杂合子，全部位于脑出血组，没有发现突变型的纯合子。等位基因 Val34和 Leu34在所研究的中国人群中的频率分别是 99.3％和 0.7％。结论 FXⅢ基因 Val34Leu突变可能与中国人群的脑出血有潜在的关系。
Objective To investigate the relationship between the Va134Leu mutation of coagulation factor XⅢ gene and the incidence of cerebral hemorrhage in Chinese population. Methods The genotype frequency of FXⅢ gene in 150 patients with primary cerebral hemorrhage and 150 non-stroke controls was analyzed by allele-specific polymerase chain reaction (PCR). Results Four heterozygotes of Val34Leu mutation of FXⅢ gene were found in the studied population, all of which were located in cerebral hemorrhage group. No mutant homozygote was found. The frequencies of the alleles Val34 and Leu34 in the Chinese population studied were 99.3% and 0.7%, respectively. Conclusion The Val34Leu mutation of FXⅢ gene may have a potential relationship with cerebral hemorrhage in Chinese population.