J Korean Med Sci.  2002 Apr;17(2):249-253. 10.3346/jkms.2002.17.2.249.

No Association of Factor XIII Val34Leu Polymorphism with Primary Intracerebral Hemorrhage and Healthy Controls in Korean Population

• Cho KH
• Kim BC
• Kim MK
• Shin BA

• KMID: 648685
• DOI: http://doi.org/10.3346/jkms.2002.17.2.249

Abstract

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.

Keyword

Factor XIII; Point Mutation; Polymorphism (Genetics); Cerebral Hemorrhage; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational

MeSH Terms

Adult
Aged
Aged, 80 and over
Cerebral Hemorrhage/epidemiology/*genetics/prevention & control
Electrophoresis, Polyacrylamide Gel/methods
Factor XIII/*genetics
Female
Humans
Korea/epidemiology
Leucine/genetics
Male
Middle Aged
Polymerase Chain Reaction/methods
*Polymorphism, Genetic
Polymorphism, Single-Stranded Conformational
Sequence Analysis, DNA
Valine/genetics