Cho Ki-Hyun, Kim Byeong-Chae, Kim Myeong-Kyu, Shin Boo-Ahn
Department of Neurology, Chonnam National University Medical School, Gwangju, Korea.
J Korean Med Sci. 2002 Apr;17(2):249-53. doi: 10.3346/jkms.2002.17.2.249.
The polymorphism in the factor XIII A-subunit gene (FXIII Val34Leu) has been recognized as a risk factor for primary intracerebral hemorrhage (PICH). In addition, FXIII Val34Leu has a significant ethnic heterogeneity. FXIII Val34Leu was detected in 41.7-54.8% of the Westerners, but in 2.5% of the Asians. We aimed to evaluate the prevalence of FXIII Val34Leu in patients with PICH and in healthy controls among Koreans. We recruited 58 in-patients with PICH, defined by brain computed tomography or magnetic resonance imaging, and 48 controls matched for age, sex, and risk factors for cerebrovascular diseases. Genomic DNA was extracted from blood. A 183-bp fragment of exon 2/intron B of the factor XIII Asubunit gene was amplified by polymerase chain reaction (PCR). The factor XIII genotype was determined through a single-stranded conformational polymorphism. Fifty-eight patients and 48 controls showed the same band patterns on SSCP. In addition, we directly sequenced six random-selected DNA segments using DNA auto-sequencer. In conclusion, the results of this study suggest that FXIII Val34Leu be absent or rare both in patients with PICH and in healthy controls among Koreans.
凝血因子 XIII A 亚基基因多态性（FXIII Val34Leu）已被确认为原发性脑出血（PICH）的一个危险因素。此外，FXIII Val34Leu 具有显著的种族异质性。在 41.7%至 54.8%的西方人中检测到 FXIII Val34Leu，但在亚洲人中仅为 2.5%。我们旨在评估韩国 PICH 患者和健康对照人群中 FXIII Val34Leu 的患病率。我们招募了 58 例经脑计算机断层扫描或磁共振成像确诊的 PICH 住院患者，以及 48 例年龄、性别和脑血管疾病危险因素相匹配的对照者。从血液中提取基因组 DNA。通过聚合酶链反应（PCR）扩增凝血因子 XIII A 亚基基因外显子 2/内含子 B 的一个 183 碱基对片段。通过单链构象多态性确定凝血因子 XIII 基因型。58 例患者和 48 例对照者在 SSCP 上显示相同的条带模式。此外，我们使用 DNA 自动测序仪对六个随机选择的 DNA 片段进行直接测序。总之，本研究结果表明，在韩国的 PICH 患者和健康对照人群中，FXIII Val34Leu 不存在或罕见。
