Ozbek N, Ataç F B, Verdi H, Cetintaş S, Gürakan B, Haberal A
Baskent University School of Medicine, Department of Medical Biology and Genetics, Baglica Kampusu, Ankara, Turkey.
Thromb Res. 2008;122(2):175-8. doi: 10.1016/j.thromres.2007.10.004. Epub 2007 Nov 28.
Small gestational age (SGA) is one of the major causes of fetal mortality and morbidity. Altered maternal homeostasis as a result of point mutations in the coagulation cascade has been reported as an important risk factor for this adverse pregnancy outcome. This study aims to investigate the relationship between mother's thrombophilic mutations and SGA deliveries in our population. The study group was consisted of sixty-six women who gave birth to one or more SGA babies. 104 women who gave birth to appropriate-for-gestational age (AGA) babies were sampled for the control group. Restriction fragment size analysis were performed by visualizing digested PCR products for Factor V Leiden (G1691A), Factor V Cambridge (A1090G), Factor V A1299G, prothrombin G20210A, methylene tetrahydropholate reductase C677T, A1298C and T1317C mutations. The results of this study indicate that maternal C677T (p=0.01) and A1298C (p<0.01) mutations in MTHFR gene may be suggested as risk factors for SGA outcome in our population. Therefore, maternal screening of these two mutations in the first trimester of pregnancy could help in the assessment of patients.
小于胎龄儿(SGA)是胎儿死亡和发病的主要原因之一。据报道,凝血级联反应中的点突变导致母体稳态改变是这一不良妊娠结局的重要危险因素。本研究旨在调查我们研究人群中母亲的血栓形成倾向突变与小于胎龄儿分娩之间的关系。研究组由66名生育了一个或多个小于胎龄儿的女性组成。选取104名生育了适于胎龄(AGA)儿的女性作为对照组。通过可视化凝血因子V莱顿(G1691A)、凝血因子V剑桥(A1090G)、凝血因子V A1299G、凝血酶原G20210A、亚甲基四氢叶酸还原酶C677T、A1298C和T1317C突变的消化后PCR产物进行限制性片段大小分析。本研究结果表明,母亲亚甲基四氢叶酸还原酶(MTHFR)基因中的C677T(p = 0.01)和A1298C(p < 0.01)突变可能是我们研究人群中小于胎龄儿结局的危险因素。因此,在妊娠早期对这两种突变进行母体筛查有助于对患者进行评估。