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

Year 2019, Volume: 12 Issue: 1, 199 - 208, 18.01.2019

Kanay Yararbas , Hatice Ilgın Ruhı Kaan Aydos Atilla Elhan Ajlan Tukun

https://doi.org/10.31362/patd.444701

Abstract

Background and Aim: 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  that may not be detected by conventional
methods. With additional data, it may be possible to identify the etiologic
significance of these variations.

Keywords

male infertility, Azoospermia, Comparative Genomic Hybridization, CGH, Cryptic Chromosomal Changes, Copy number variations, CNV

Açıklanamayan erkek infertilitesi: gerçekten idiopatik mi? Azoospermik erkeklerde karşilaştirmali genomik hibridizasyon yöntemi ile DNA kopya sayisi varyasyonlari ve aday kromozomal lokuslarin belirlenmesi

Abstract

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.

Keywords

Erkek İnfertilitesi, azoospermi, Karşılaştırmalı Genomik Hibridizasyon, Kriptik Kromozomal Değişiklikler, Kopya sayısı varyasyonları, CGH, CNV

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