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- W2186391729 abstract "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. Bu çalışma, sağlıklı Mısır populasyonunda FV1691 G-A, FV4070 A-G, PT20210 G-A, EPCR geni 23 bç insersiyonu ve ACE geni 300 bç delesyon sıklığını araştırmak için planlanmıştır. 188 sağlıklı birey çalışmaya dahil edilmiştir. Mutasyonlar daha önceki moleküler teknikler kullanılarak tespit edilmiştir. 31 bireyin (%16.5) FV1691 G-A mutasyonunu taşıdığı ve allel sıklığının 0.09 olduğu belirlenmiştir. R2 ve R3 haplotipleri sırasıyla 21(%11.2) ve 4 (%2.1) olarak tespit edilmiştir. EPCR geni 23 bç insersiyonunu heterozigot olarak taşıyan bir birey (%0.53), PT20210 G-A mutasyonunu taşıyan iki birey (%1.06) olduğu belirlenmiştir. Anjiotensin dönüştürücü enzim geni -300 bç delesyonunu homozigot olarak taşıyan 92 birey (%48.9) olduğu ve D allel sıklığının 0.718 olduğu saptanmıştır. Bu başlangıç çalışmamız, tromboza yatkınlığa neden olan FV1691 G-A mutasyonunun Mısır populasyonunda sık olduğunu ve bu nedenle trombotik olaylarda da araştırılmasının anlamlı olabileceğini ortaya koymuştur." @default.
- W2186391729 created "2016-06-24" @default.
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- W2186391729 date "2006-06-05" @default.
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- W2186391729 title "Frequency of five thrombophilic polymorphisms in the Egyptian population." @default.
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