HGM2002 Poster Abstracts: 8. Disease Mechanisms
POSTER NO: 475
Clinical Significance of Prothrombotic Mutations in a Non-selected Obstetric Population
Weiyi Zhang, Robert Ogle
Prothrombotic states or thrombophilias are persistent and identifiable states which may be inherited or acquired and result in an increase risk of thrombosis. Recently, this thrombotic event has been thought to involve the placenta and so result in adverse perinatal outcome. Inherited thrombophilias result from mutations in a number of different proteins associated with clotting. There is increasing evidence that if the mother has a heritable thrombophilia, this may result in excess fetal loss in a pregnancy. The adverse consequences of these prothrombotic states may have a role in causing severe pre-eclampsia, abruptio placentae and severe intrauterine growth restriction. Studies have looked at high-risk populations with matched controls and have found some association with the inherited thrombophilias and adverse perinatal outcome. These studies however have not examined large populations, nor assessed the impact if the fetus has inherited the mutation associated with the thrombophilia. To examine the associations of five prothrombotic gene mutations with obstetric complications, DNA samples collected from 235 mothers and their babies in our hospital were genotyped. The mutations involved Factor V Leiden, prothrombin (G20210A), methylene tetrahydrofolate reductase (C677T), cystathionine B synthase (T833G) and methionine synthase (A2756G). The preliminary analysis found that Factor V leiden and prothrombin (G20210A) indeed are linked to the adverse perinatal outcome in our population (P<0.05 and P<0.01 respectively). But the other three mutations associated with the metabolism of homocysteine did not differ significantly between affected women and normals. The frequencies of genotypes from all five genes haven't shown statistical difference between mothers and their babies.
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