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No association of factor XIII Val34Leu polymorphism with primary intracerebral hemorrhage and healthy controls in Korean population.

机译:在韩国人群中因子XIII Val34Leu多态性与原发性脑出血和健康对照无关联。

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摘要

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.
机译:XIII A亚基因子基因(FXIII Val34Leu)的多态性已被认为是原发性脑出血(PICH)的危险因素。此外,FXIII Val34Leu具有明显的种族异质性。在41.7-54.8%的西方人中检出了FXIII Val34Leu,但在亚洲人中检出了2.5%。我们旨在评估PICIII患者和健康人中FXIII Val34Leu的患病率。我们招募了58名由脑计算机断层扫描或磁共振成像确定的PICH住院患者,并选择了48名年龄,性别和脑血管疾病危险因素匹配的对照。从血液中提取基因组DNA。通过聚合酶链反应(PCR)扩增因子XIII A亚基基因的外显子2 /内含子B的183bp片段。通过单链构象多态性确定因子XIII的基因型。 58名患者和48名对照在SSCP上显示相同的条带模式。此外,我们使用DNA自动测序仪直接对六个随机选择的DNA片段进行了测序。总之,这项研究的结果表明,在韩国人中,PICH患者和健康对照者均不存在或罕见的FXIII Val34Leu。

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