ANALYSIS OF POLYMORPHIC CHROMOSOME VARIANTS IN COUPLES WITH RECURRENT PREGNANCY LOSS

Year 2024, , 93 - 98, 04.06.2024

Nermin Akçalı , Saliha Handan Yıldız , Müjgan Özdemir Erdoğan , Mustafa Solak , Mine Kanat Pektaş

https://doi.org/10.26650/JARHS2024-1399963

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

Project Number

BAP 17.SAĞ.BİL.32.

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

Project Number

BAP 17.SAĞ.BİL.32.

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