Hatice Ilgın Ruhi, Kanay YARABAS, Ajlan TUKUN, Kaan AYDOS, Atilla ELHAN

Açıklanamayan erkek infertilitesi gerçekten idiopatik mi? Azoospermik erkeklerde karşilaştirmali genomik hibridizasyon yöntemi ile DNA kopya sayısı varyasyonları ve aday kromozomal lokusların belirlenmesi

Amaç: İnfertilite, beş çiftten birini etkileyen, en yaygın sağlık sorunlarından biridir. Erkek faktörü, bu durumun önemli bir kısmını oluşturur. Bu çalışmanın amacı, azoospermik erkeklerde karşilaştirmali genomik hibridizasyon yöntemi ile DNA kopya sayisi varyasyonlarının ve aday kromozomal lokuslarin belirlenmesidir. Gereç ve yöntem: Bu çalışmada karşılaştırmalı Genomik Hibridizasyon (CGH) yöntemiyle infertil erkeklerde daha önce tanımlanamayan genetik etiyolojik faktörleri saptamayı amaçladık. Dolayısıyla bazı idiyopatik vakaları açıklamak ve etkilenen çiftlere daha doğru danışmanlık sağlamak mümkün olabilir. Bu teknik aynı zamanda de novo infertiliteye ilişkin loküslerin tahmin edilmesine izin verebilecektir. Bulgular: Toplam 90 hasta karşılaştırmalı genomik hibridizasyon ile analiz edildi. 49 hasta en az bir bulgu ortaya çıkarırken, 41 hastada (% 46) tekniğimizle saptanan kopya sayısı değişimi yoktu. CNV lokuslarında toplam 21 spermatogenez ile ilgili gen mevcuttu. Sonuç: Çalışmadan elde edilen veriler, infertil erkeklerin geleneksel yöntemlerle saptanamayacak bazı DNA kopya sayısı varyasyonları gösterebildiklerini göstermektedir. Ek verilerle, bu varyasyonların etyolojik önemini saptamak mümkün olabilir.

Is idiopathic male infertility really idiopathic ? Detection of DNA copy number variations and candidate chromosomal loci among azoospermic males by high resolution comparative genomic hybridization

Purpose: Infertility is one of the most common health problems affecting about one of five couples, and male factor contributes to a considerable proportion of this condition. This study aimed to detect DNA copy number variations of azoospermic males by high resolution comparative genomic hybridization and suggest candidate chromosomal loci associated with male infertility. Materials and methods: By using Comparative Genomic Hybridization (CGH), we aimed to detect previously unidentified genetic etiologic factors among infertile males. Thus it may be possible to explain some idiopathic cases and provide more accurate counselling to the affected couples. This technique may also allow predicting de novo infertility related loci. Results: A total of 90 patients were analyzed by comparative genomic hybridization. 49 patients revealed at least one finding, whereas in 41 patients (46%) there was no copy number variations detected by our technique. A total of 21 spermatogenesis – related genes was present within the CNV loci. Conclusion: The data obtained from this study show that infertile males may carry some DNA copy number variations hat may not be detected by conventional methods. With additional data, it may be possible to identify the etiologic significance of these variations.

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