Saliha Handan YILDIZ, Yakup Melik ŞENER, Nermin AKÇALI, Müjgan ÖZDEMİR ERDOĞAN, Mustafa YILDIZ

KROMOZOM POLİMORFİZMLERİ İLE İNFERTİLİTE ARASINDAKİ İLİŞKİNİN ANALİZİ

AMAÇ: İnfertilite tanısı almış ve karyotip analizi yapılmış 391 vaka (178 kadın, 213 erkek) grubu ve 40 çiftten oluşan kontrol grubunun kromozomal polimorfizmler açısından karşılaştırılması amaçlandı. GEREÇ VE YÖNTEM: Vaka grubunun kromozom polimorfizmleri, arşivdeki dosyalar ve preparatlar kullanılarak retrospektif değerlendirildi. Kontrol grubuna ait kan örneklerinden kapalı lenfosit kültürü yapılarak karyotip analizi yapıldı. BULGULAR: Toplam satellit polimorfizmleri (13 ps+,14 ps+, 15 ps+, 21 ps+ ve 22 ps+) kadın vaka grubunda kontrole göre önemli düzeyde yüksek bulundu. Vaka grubunda 1qh+, 9qh-, inv(9), 13ps+, 14ps+, 15ps+, 16qh+, 21ps+ ve 22ps+ polimorfizmlerinin dağılımlarında cinsiyetle ilişkili bir farklılık belirlenmedi. İnfertil kadınlarda en sık 9qh+ (%14,04) varyantına rastlandı. Polimorfizm 9qh+ oranı, kontrol grubuna göre vaka grubunda yüksek olmasına rağmen fark anlamsız bulundu. SONUÇ: İnfertilite ve kromozom polimorfizmleri arasında olası bir ilişkinin varlığına dair bulgular elde edilmiş olmasına rağmen, bu ilişkinin daha net ortaya konabilmesi için örneklem sayısının artırılması ve geniş kapasiteli yeni teknolojilerin kullanıldığı çalışmaların yapılması gereklidir.

Anahtar Kelimeler:

İnfertilite, Kromozom polimorfizmleri, Sitogenetik

ANALYSIS OF THE RELATIONSHIP BETWEEN CHROMOSOME POLYMOPHISMS AND INFERTILITY

OBJECTIVE: It was aimed to compare the group consisting 391 cases (178 females, 213 males) diagnosed with infertility and performed karyotype analysis, and a control group consisting of 40 couples in terms of the chromosomal polymorphisms. MATERIAL AND METHODS: Chromosomal polymorphisms of the case group were evaluated retrospectively using archive files and preparations. Closed lymphocyte culture was performed from the blood samples of the control group and karyotype analysis was performed. RESULTS: Total satellite polymorphisms (13 ps+, 14 ps+, 15 ps+, 21 ps+ and 22 ps+) were found to be significantly higher in the female case group than in the control. No gender-related difference was detected in the distribution of 1qh+, 9qh-, inv(9), 13ps+, 14ps+, 15ps+, 16qh+, 21ps+ and 22ps+ polymorphisms in the case group. The most common variant was 9qh+ (14.04%) in infertile women. Although the rate of polymorphism 9qh+ was higher in the case group compared to the control group, the difference was found to be insignificant. CONCLUSIONS: Although findings regarding the existence of a possible relationship between infertility and chromosomal polymorphisms have been obtained, it is necessary to increase the number of samples and conduct studies using new technologies with a large capacity in order to reveal this relationship more clearly.

Keywords:

Infertility, Chromosome polymorphisms, Cytogenetics,

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1. Chowdhury SH, Cozma AI, Chowdhury JH. Infertility. Essentials for The Canadian Medical Liscensing Exam: Review and Prepfor MCCQE Part I. 2nd edition. Wolters Kluwer, Hong Kong, 2017.
2. Raque-Bogdan TL, Hoffman MA. The relationship among infertility, self compassion, and well-being for women with primary or secondary infertility. Psychol Women Quart. 2015;39(4):484-96.
3. Petraglia F, Serour GI, Chapron C. The changing prevalence of infertility. Int J Gynecol Obstet. 2013;123(2):4-8.
4. Hong Y, Zhou YW, Tao J, et al. Do polymorphic variants of chromosomes affect the outcome of in vitro fertilization and embryo transfer treatment?. Hum Reprod. 2011;26(4):933–40.
5. Madon PF, Athalye A S, Parikh F R. Polymorphic variants on chromosomes probably play a significant role in infertility. Reprod Biomed Online. 2005; 1(6):726-32.
6. Çağlayan AO, Özyazgan I, Demiryılmaz F, Özgün MT. Are heterochromatin polymorphism associated with recurrent miscarriage?. J Obstet Gynaecol Res. 2010;36:774–76.
7. Wilson A, Watt K, Ma S, The incidence of long heterochromatic polymorphism variants in infants conceived through assisted reproductive technologies. Reprod BioMed Online. 2017;35(2):219-24.
8. Wyandt HE, Wilson GN, Tonk VS. Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis, Second Edication, Springer, Boston USA. 2017:13-14.
9. Zegers-Hochschild F, Adamson G D, Dyer S, et al. The international glossary on infertility and fertility care. Fertil Steril. 2017;108(3):393-406.
10. Fryns J, Kleczkowska A, Londers L, van den Berqhe H. Unusual chromosome 9 polymorphism and reproductive failure. Ann Génét. 1985;28(1):49-51.
11. Di Gennaro G, Mascia A, Grammaldo L. Focal cortical dysplasia and pericentric inversion of chromosome 9: a case report. J Neurol Sci. 2004;21:143-6.
12. Ombelet W, Cooke I, Dyer S, Serour G, Devroey P. Infertility and the provision of infertility medical services in developing countries. Hum Reprod Update. 2008;14:605-621.
13. Nakamura Y, Kitamura M, Nishimura K, et al. Chromosomal variants among 1790 infertile men. Int J Urol. 2001; 8(2):49-52.
14. Purandare H, Fernandes NV, Deshmukh SV. Heterochromatic variations and pregnancy losses in humans. Int J Hum Genet. 2011;11:167-75.
15. Şahin FI, Yilmaz Z, Yüreğir O, Bulakbasi T, Özer O, Zeyneloğlu HB. Chromosome heteromorphisms: an impact on infertility. J Assist Reprod Genet. 2008;25(5):191-5.
16. Mierla D, Stoian V. Chromosomal polymorphisms involved in reproductive failure in the Romanian population. Balk J Med Genet. 2012;15(2):23–8.
17. Dong Y, Jiang Y T, Du RC, et al. Impact of chromosomal heteromorphisms on reproductive failure and analysis of 38 heteromorphic pedigrees in Northeast China. J Assist Reprod Genet. 2013;30:275-81.
18. Minocherhomji S, Athalye A S, Madon P F, et al. A case-control study identifying chromosomal polymorphic variations as forms of epigenetic alterations associated with the infertility phenotype. Fertil Steril. 2009;92(1):88–95.
19. Šípek, A. Jr., Mihalová, R., Panczak, A., et al. Heterochromatin variants in human karyotypes: a possible association with reproductive failure. Reprod Biomed Online. 2014;29(2):245-50.
20. Xu X, Zhang R, Wang W, et al. The effect of chromosomal polymorphisms on the outcomes of fresh IVF/ICSI-ET cycles in a Chinese population. J Assist Reprod Genet. 2016;33(11):1481–6.
21. Cheng R, Ma Y, Nie Y, et al. Chromosomal polymorphisms are associated with female infertility and adverse reproductive outcomes after infertility treatment: a 7-year retrospective study. Reprod Biomed Online. 2017; 35(1):72–80.
22. Rawal L, Kumar S, Mishra S R, et al. Clinical manifestations of chromosomal anomalies and polymorphic variations in patients suffering from reproductive failure. J Hum Reprod Sci. 2020;13(3):209–15.
23. Karaca Y, Pariltay E, Mardan L, et al. Co-occurrences of polymorphic heterochromatin regions of chromosomes and effect on reproductive failure. Reprod Biol. 2020;20(1):42–7.
24. Morales R, Lledó B, Ortiz J A, et al. Chromosomal polymorphic variants ıncrease aneuploidies in male gametes and embryos. Syst Biol Reprod Med. 2016; 62(5):317-24.