Çukurova bölgesi prematür menopoz hastalarında inhibin alfa (769 G→A) gen mutasyonunun araştırılması

ÖZET Amaç: Bu çalışmada, Folikül uyarıcı hormon (FSH) ’ın negatif geri bildirim mekanizmasındaki fonksiyonu nedeni ile prematür menopozun oluşumunda rolü olabileceği düşünülen inhibin (INH) alfa genindeki 769 G→A missense mutasyonunun Çukurova bölgesindeki prematür menopoz hastalarında görülme sıklığı araştırıldı. Gereç ve Yöntem: Prematür Menopoz (PM) teşhisi konulan 28 hasta ve 9 sağlıklı bireyden oluşan kontrol grubundan alınan kan örneklerinden DNA izolasyonu yapıldı ve inhibin α geninin ekzon 2 bölgesinin içinde bulunan 243 baz çiftlik bölge Polimeraz Zincir Reaksiyonu (PZR) ile amplifiye edildi. PZR ile çoğaltılan bölgeler uygun Restriksiyon endonükleaz enzimi (Bbv I) kullanılarak kesildi. Bulgular: INH α geninin ekzon 2 bölgesinde bulunan 769 G→A mutasyonu 28 PM hastasında ve ayrıca kontrol grubunda saptanmamıştır. Sonuç: Sonuçlarımız Çukurova bölgesinde INH α genindeki 769 G→A mutasyonu ile PM arasında bir ilişki olmayabileceğini göstermektedir. Bununla birlikte, PM etiyolojisinde INH α geninin rolünü anlayabilmek için farklı etnik kökenlerden daha fazla sayıda hasta grubu ile araştırma yapılmalıdır.

Anahtar Kelimeler:

İnhibin α geni, prematur menopoz, mutasyon, FSH

Investigation of inhibin alpha (769 G→A) gene mutation in premature menopause patients in Çukurova region

ABSTRACT Purpose: The aim of this study is to investigate the frequency of 769 G → A missense mutation in the inhibin (INH) α gene, which is thought to have a role in the formation of premature menopause due to the function in the negative feedback mechanism of Follicle Stimulating Hormone (FSH), in premature menopause patients in Çukurova region. Materials and Methods: DNA was isolated from blood samples taken from 28 patients diagnosed with Premature Menopause (PM) and 9 healthy individuals as a control group, and 243 bp regions in the exon 2 of the inhibin α gene were amplified by Polymerase Chain Reaction (PCR), then the PCR products were digested with (Bbv I) endonuclease enzyme. Results: The 769 G→A mutation in exon 2 of the INH-α gene was not detected in 28 PM patients and also in control group. Conclusion: 769 G→A mutation in INH α gene may not be associated with PM in Çukurova region. However, further investigations into a larger number of patient groups from different ethnicities should be conducted to understand the role of INH α gene in the etiology of PM.

Keywords:

Inhibin α gene, premature menopause, mutation, FSH.,

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