The factor V Leiden mutation may predispose women to severe preeclampsia
The factor V Leiden mutation may predispose women to severe preeclampsia
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DOI：
10.1016/s0002-9378(96)80022-6
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发表时间：
1996-10-01
影响因子：
9.8
通讯作者：
Ward, K
中科院分区：
文献类型：
--
作者：
DizonTownson, DS;Nelson, LM;Ward, K
目的：最近的一项研究表明，对活化蛋白C的抵抗可能是某些重度先兆子痫病例的基础。凝血因子V基因中常见的错义突变，即Leiden突变，是对活化蛋白G耐药的最常见遗传原因。我们的目的是要确定这种突变是否是更普遍的严重先兆子痫患者比血压正常controls.Study设计：脱氧核糖核酸提取的全血中的158个妊娠妇女符合标准的美国妇产科学院严重先兆子痫和403血压正常的妊娠妇女。用聚合酶链反应扩增第10外显子，然后用Mnl 1进行等位基因特异性限制性酶切以检测突变。结果用卡方（2）列联表进行分析。结果：没有患者为Leiden突变纯合子。158例重度子痫前期患者中有14例（8.9%）为Leiden突变杂合子，而403例正常妊娠对照中有17例（4.2%）为Leiden突变杂合子。重度子痫前期妇女与正常血压对照组之间的频率差异有统计学意义，χ 2 = 4.686，p = 0.03。结论：我们的数据表明，因子V Leiden突变携带者患重度子痫前期的风险增加。脱氧核糖核酸分析因子V莱顿突变可以作为遗传筛查的一个组成部分先兆子痫和其他不良妊娠结局。携带这种突变的女性患深静脉血栓的风险增加。这种常见的血栓性突变的携带者可以被识别，以便在怀孕和外科手术期间提供关于未来避孕药使用和有效血栓栓塞预防的充分咨询。
OBJECTIVE: A recent study showed that resistance to activated protein C may underlie 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 G. Our objective was to determine whether this mutation is more prevalent in patients with severe preeclampsia than in normotensive controls.STUDY DESIGN: Deoxyribonucleic acid was extracted from whole blood of 158 gravid women meeting criteria of The American College of Obstetricians and Gynecologists for 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 were analyzed with a chi(2) contingency table.RESULTS: No patients were homozygous for the Leiden mutation. Fourteen of 158 women with severe preeclampsia (8.9%) were heterozygous for the Leiden mutation compared with 17 of 403 normotensive gravid controls (4.2%). The difference in frequency between women with severe preeclampsia and normotensive controls was statistically significant, chi(2) 4.686, p = 0.03.CONCLUSIONS: Our data suggest that carriers of the factor V Leiden mutation are at increased risk for severe preeclampsia. Deoxyribonucleic acid analysis for the factor V Leiden mutation could serve as one component of a genetic screening profile for preeclampsia and other adverse pregnancy outcomes. Women who carry this mutation are at increased risk for deep venous thrombosis. Carriers of this common thrombophilic mutation may be identified so that adequate counseling regarding future contraceptive usage and effective thromboembolic prophylaxis during pregnancy and surgical procedures may be offered.