한국인 임신부에서 Factor V 유전자 돌연변이와 중증 전자간증의 관계 = Study on the Factor V Leiden Mutation in Pregnant Women and Relationship with Preeclampsia Severe Form

다국어 초록 (Multilingual Abstract)

Objective: A study showed that resistance to activated protein C may develope some cases of severe preeclampsia. A common missense mutation in the factor V gene, the Leiden mutation, is the most frequent genetic cause of resistance to activated protein C. Our objective was to determine whether this mutation is more prevalent in patients with severe preeclampsia than in normotensive controls. Method: Deoxyribonucleic acid was extracted from whole blood of 158 gravid women of severe preeclampsia and 403 normotensive gravid women. The polymerase chain reaction was used to amplify exon 10 of the factor V gene, followed by allele-specific restriction with Mnl 1 for mutation detection. Results: No patients were homozygous for the Leiden mutation. We could not find any positive case with FV: Q506 in the normal or patient group. Conclusion: We could not find that carriers of the factor V Leiden mutation are increased risk for severe preeclampsia. In contrast to the reports in Caucasian, the prevalence of APC resistance and FV: Q506 might be very low or absent in the Korean population. But, carriers of this common thrombophilic mutation may be identified so that other causes and risk factors for inherited thrombophilia should be investigated in the Korean population.