Frequency of five thrombophilic polymorphisms in the Egyptian population

This study was conducted to evaluate the frequency of FV1691 G-A, FV4070 A-G, PT20210 G-A, EPCR 23 gene bp insertion and ACE gene 300 bp deletion among healthy Egyptians. One hundred and eighty eight healthy Egyptians were included to the study. Previously reported molecular techniques were used for the determination of mutations. Thirthy one individuals had FV1691 G-A (16.5%) mutation with an allele frequency of 0.09. R2 and R3 haplotypes were found in 21 (11.2%) and 4 (2.1%) individuals, respectively. Only one healthy individual had EPCR gene 23 bp insertion (0.53%) and two individuals (1.06%) had PT20210 G-A mutation, respectively. The ACE gene -300 bp del in homozygous state was present in 92 (48.9%) individuals. The frequency of D allele was 0.718. Our preliminary data revealed that FV1691 G-A mutation is very frequent among Egyptians and it will be meaningfull to study the mutation also in the thrombotic events in Egypt.