Frequency of factor V leiden (G1691A), prothrombin (G20210A) and methylenetetrahydrofolate reductase (C677T) genes mutations in women with adverse pregnancy outcome
Küçük Resim Yok
Tarih
2006
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Amaç: Bu çalışmada amaç, kal›tsal trombofililerin preeklampsi, intrauterin gelişme kısıtlılığı, ablasiyo plasenta, tekrarlayan gebelik kayıpları ve ölü doğumları olan gebelerdeki sıklığını araştırmaktır. Materyal ve Metot: Çalışmaya komplikasyonlu gebeliği olan 60 hasta ve kontrol grubu olarak da 53 normal gebe dahil edilmiştir. Komplikasyonlu gebe grubu preeklampsi (n=21), intrauterin gelişim kısıtlılığı (n=12), ölü doğum (n=12), ablasiyo plasenta (n=5) ve tekrarlayan gebelik kayıpları (n=10) altgruplarından oluşturulmuştur. Faktör V Leiden mutasyonu, protrombin mutasyonu (PT 20210G/A) ve metilentetrahidrofolat redüktaz (MTHFR) C677T polimorfizminin genotipik analizleri real-time online polimeraz zincir reaksiyonu ile araştırılşmıştır. Sonuç: Faktör V Leiden mutasyonu, komplikasyonlu gebelik grubunda normal gruba kıyasla istatistiksel olarak daha yüksek oranda bulunmuştur (%23-7.5) (p=0.04). Diğer taraftan, heterozigot MTHFR sıklığı açısından her iki grup arasında farklılık saptanmamıştır. Bununla beraber, komplikasyonlu gebeliği olan kadınların %9’unda homozigot mutasyon saptanırken, kontrol grubundaki hiçbir olguda homozigot MTHFR mutasyonuna rastlanılmamıştır. PT gen mutasyonu sadece kontrol grubundaki bir olguda saptanmıştır. Tartışma: Faktör V Leiden mutasyonu ve MTHFR polimorfizminin heterozigotluktan çok, homozigotluk durumunda plasental vaskülopati ile ilişkili kötü gebelik sonuçlarının patogenezinde rol alabileceği düşünülmüştür.
Objective: In the present study, we have aimed to determine the frequency of common inherited thrombophilias among women with preeclampsia, intrauterine growth retardation, placental abruption, recurrent pregnancy loss, and stillbirth. Materials and Methods: Sixty women with complicated pregnancies and as a control group 53 normal pregnant women were included in the study. Women with complicated pregnancies consist of preeclampsia (n=21), intrauterine growth restriction (n=12), intrauterine fetal death (n=12), placental abruption (n=5) and recurrent pregnancy loss (n=10). Genotype analysis for factor V Leiden mutation, prothrombin mutation (PT 20210G/A), and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism were performed by real-time online polymerase chain reaction. Results: The frequency of Factor V Leiden mutation was found statistically higher in the complicated pregnancy group, compared to normal group (23.3% vs 7.5%) (p=0.04). On the other hand, no difference was detected on the heterozygous MTHFR frequencies between the two groups. However, 9% of the women with complicated pregnancies had homozygous mutation and no woman was homozygous for MTHFR in the control group. PT gene mutation was found in only one patient from the control group. Discussion: Factor V Leiden mutation and homozygousity for the MTHFR polymorphism, rather than its heterozygousity, might be involved in the pathogenesis of adverse pregnancy outcome associated with placental vasculopathy.
Objective: In the present study, we have aimed to determine the frequency of common inherited thrombophilias among women with preeclampsia, intrauterine growth retardation, placental abruption, recurrent pregnancy loss, and stillbirth. Materials and Methods: Sixty women with complicated pregnancies and as a control group 53 normal pregnant women were included in the study. Women with complicated pregnancies consist of preeclampsia (n=21), intrauterine growth restriction (n=12), intrauterine fetal death (n=12), placental abruption (n=5) and recurrent pregnancy loss (n=10). Genotype analysis for factor V Leiden mutation, prothrombin mutation (PT 20210G/A), and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism were performed by real-time online polymerase chain reaction. Results: The frequency of Factor V Leiden mutation was found statistically higher in the complicated pregnancy group, compared to normal group (23.3% vs 7.5%) (p=0.04). On the other hand, no difference was detected on the heterozygous MTHFR frequencies between the two groups. However, 9% of the women with complicated pregnancies had homozygous mutation and no woman was homozygous for MTHFR in the control group. PT gene mutation was found in only one patient from the control group. Discussion: Factor V Leiden mutation and homozygousity for the MTHFR polymorphism, rather than its heterozygousity, might be involved in the pathogenesis of adverse pregnancy outcome associated with placental vasculopathy.
Açıklama
Anahtar Kelimeler
Kadın Hastalıkları ve Doğum
Kaynak
Journal of the Turkish-German Gynecological Association
WoS Q Değeri
Scopus Q Değeri
Cilt
7
Sayı
3
