TEKRARLAYAN GEBELİK KAYBI OLAN ÇİFTLERDE POLİMORFİK KROMOZOM VARYANTLARININ ANALİZİ

Abstract

Amaç: Bu çalışmada, iki veya daha fazla tekrarlayan gebelik kaybı (TGK) olan vaka grubu (n=1688) ve kontrol grubu (n=80) kromozom polimorfizmleri (1qh+, 9qh+, inv9, 13ps+, 14ps+, 15ps+, 16qh+, 21 ps+, 22 ps+ ve Yqh+) açısından değerlendirildi. Gereç ve Yöntem: Kontrol grubu bilinen bir kalıtsal hastalığı olmayan, akraba olmayan, sağlıklı çocuğu olan, düşük ve/veya ölü doğum öyküsü olmayan 40 evli çiftten seçildi. Fitohemaglutinin ile indüklenmiş periferik kan lenfositlerinin 72 saatlik kültürü yapıldı. Elde edilen metafaz plaklarına Giemsa-Trypsin-Leischman (GTL) bantlama tekniği uygulandı. Her birey için yapılan kromozom analizinde 450-550 bant seviyesinde 30 metafaz plağı incelendi. Bulgular: Polimorfik kromozom varyantı taşıyan bireylerin sayısı vaka grubunda 488 ve kontrol grubunda ise 13 olarak belirlendi. 9qh+ kromozom polimorfizminin kontrole göre vaka grubunda daha yüksek oranda olduğu belirlendi (p=0,028). Bununla birlikte, diğer bazı varyantların da vaka grubunda artış eğilimi gösterdiği gözlendi (p=0,014). Sonuç: Bulgularımız TGK ile kromozom polimorfizmleri arasında bir ilişki olabileceğini kanıtladı. TGK olan bireylerde karyotip analizi ve uygun genetik danışma sağlıklı çocuk sahibi olma şansını artırmaktadır

Keywords

• Tekrarlayan gebelik kaybı
• sitogenetik
• kromozom polimorfizmleri

ANALYSIS OF POLYMORPHIC CHROMOSOME VARIANTS IN COUPLES WITH RECURRENT PREGNANCY LOSS

Abstract

Objective: This study evaluated chromosome polymorphisms (1qh+, 9qh+, inv9, 13ps+, 14ps+, 15ps+, 16qh+, 21 ps+, 22 ps+ and Yqh+) in a case group (n=1688) with two or more recurrent pregnancy losses (RPL) and a control group (n=80). Materials and Methods: The control group was selected from 40 married couples who had no known hereditary disease, were not relatives, had healthy children, and had no history of miscarriage and/or stillbirth. Phytohemagglutinin-induced peripheral blood lymphocytes were cultured for 72 h. The Giemsa–Trypsin–Leischman (GTL) banding technique was applied to the obtained metaphase plates; thirty metaphase plates were examined at the 450-550 band level in each individual. Results: A total of 488 individuals in the case group and 13 in the control group carried polymorphic chromosome variants.9qh+ chromosome polymorphisms were more prevalent in the case group than in the control group (p=0.028). Other variants were also increasingly observed in the case group (p=0.014). Conclusion: Our findings reveal a potential relationship between RPL and chromosome polymorphisms. Karyotype analysis and appropriate genetic counseling increase the chance of having healthy children in individuals with RPL.

Keywords

• Recurrent pregnancy loss
• cytogenetics
• chromosome polymorphisms

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