Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology

Background: Recurrent miscarriage (RM) is defined as three or more consecutive pregnancy failures. Polymorphisms of plasminogen activator inhibitor-1 (PAI-1), angiotensin converting enzyme (ACE) and factor XIII (FXIII) appear to be a cause of imbalance between coagulation and fibrinolysis which could promote the development of RM. Aim: The current retrospective case-control study aimed at detecting the association between PAI-1 4G/5G polymorphism, ACE intron 16 insertion/ deletion polymorphism and FXIII Val34Leu polymorphism and repeated spontanoeus abortions (RSA) in Egyptian women. Subjects and Methods: Genotyping of 50 RSA patients and 50 healthy controls by PCR amplification of the target gene followed by allele specific restriction enzyme digestion (RFLP technique). Results: Our results revealed that the frequencies of PAI-1 4G/5G polymorphism in the case group were 64% for the wild type versus 30% for the for the heterozygous type and 6% for the polymorphic homozygous type, while in the control group they were 76%, 22% and 2% respectively. The frequencies of ACE intron 16 insertion/ deletion polymorphism in the case group were 16% for the wild type versus 56% for the for the heterozygous type and 28% for the polymorphic homozygous type, while in the control group they were 22%, 36% and 42% respectively. The frequencies of FXIII Val34Leu polymorphism in the case group were 68.0% for the wild type versus 30% for the heterozygous type and 2% for the polymorphic homozygous type, while in the control group they were 100.0%, 0% and 0% respectively. Conclusion: FXIII Val34Leu polymorphism was found to be associated with increased risk of RSA, in this sample of Egyptian women

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