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

Yıl 2021, Cilt: 46 Sayı: 4, 1581 - 1587, 30.12.2021
https://doi.org/10.17826/cumj.980604

Öz

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.

Destekleyen Kurum

Çukurova Üniversitesi Bilimsel Araştırma Projeleri Koordinatörlüğü tarafından desteklenmiştir

Proje Numarası

Proje No: TF2003YL9

Teşekkür

Değerli katkılarından dolayı Prof. Dr. Ali MATUR 'a çok teşekkür ederim.

Kaynakça

  • 1. Vanwesenbeeck I, Vennix P ve Wiel H. ‘Menopausal symptoms’ associations with menopausal status and pysycho social factors. J psychosom Obstet Gynaecol., 2001;22: 149-158.
  • 2. Oskay Ü. Menopoz ve cinsellik. 2.Uluslararası 9. Ulusal Hemşirelik Kongresi, Kadın ve Erkek Cinsel Sağlık Kursu. 9 Eylül 2003.
  • 3. B. S, A. T. Menopozda Hormon Replasman Tedavisi Kullanımı ile İlgili Tartışmalar ve Güncel Yaklaşım. Düzce Tıp Fakültesi Dergisi. 2004; 3:38-43.
  • 4. Coulam B, Adamson C, Anngers F. Incidence of premature ovarian failure. Obstet. Gynecol.,1989; 67, 604-606.
  • 5. Nelson LM. Primary ovarianin sufficiency. New EnglandJournal of Medicine. 2009; 360(6): 606-14.
  • 6. Primer Over Yetersizliği (POY) veya Prematür Over Yetmezliği https://www.tjodistanbul.com/egitim/istanbul-kliniklerinden/infertilite/primer-overyetersizligi-poy-veya-prematur-over-yetmezligi. Erişim Tarihi:14 Dec 2020.
  • 7. Rebar RW, Connolly HV. Clinical features of young women with hypergonadotropic amenorrhea. Obstetrical & Gynecological Survey. 1990;45(11):763-4.
  • 8. Persani L, Rossetti R, Cacciatore C. Genes involved in human premature ovarian failure. J Mol Endocrinol., 2010; 45(5):257-279.
  • 9. Shelling A, Burton K, Chand A, Van Ee C, France J, Farquhar C, Milson S, Love D, Gersak K, Aittomaki K, Winship I. Inhibin: a candidate gene for premature ovarian failure. Human Reproduction., 2000; 15: 2644-2649.
  • 10. Jeong H, Cho S, Kim H, Lee S, Cho J, Choi D, Kwon H, Cha W, Han J, Cha K. G769A Variation of Inhibin alpha gene in Korean Women with Premature Ovarian Failure, Yonsei Medical Journal. 2004; 45: 479-482.
  • 11. Okeke TC, Anyaehie UB, Ezenyeaku CC. Premature Menopause. Ann Med Health Sci Res., 2013; 3: 90-5.
  • 12. A.L. Chand, C.A. Harrison, and A.N. Shelling, Inhibin and premature ovarian failure, Human Reproduction Update, 2010; Vol.16, No.1 pp. 39–50.
  • 13. MacNaughton, J, Banah M, McCloud P. Et al. Age related changes in Follicle stimulating hormone, luteinizing hormone, oestradiol and immunoreactive inhibin in women of reproductive age. Clin. Endocrinol., 1992;36: 339-345.
  • 14. Pampfer S, Thomas, K, Clinical value of inhibin in women. J Gynecol Obstet. Biol. Reprod., Paris, 1989; 18: 279-287.
  • 15. Marozzi A, Porta C, Vegetti W, Crosignani P, Tibiletti M, Dalpra L, Gineli E. Mutation analysis of the inhibin alpha gene in cohort of Italian women affected by ovarian failure. Human reproduction., 2002; 7: 1741-1745.
  • 16. Miller S.A., Dykes D.D. and Polesky H.F. A simple salting out DNA extraction from parafin procedure for extracüng DNA from human nucleated cells. Nucleic Acids Res. 1988; 16, 12-15. 17. MR. Genetik kavramlar. Editör: Öner C. Altıncı baskıdan çeviri. Palme Yayıncılık, 2002; 449-531.
  • 18. Erlich HA. PCR tecnology: principles and applications for DNA amplification 2. Edition, New York: W.H. Freeman, 1992.
  • 19. Erişim: http//www.geneticahumana.lt/MOLGET_pages/PAH-protocols. Erişim Tarihi: 2005.
  • 20. Anasti N. Premature Ovarian Failure – an update. Fertil Steril., 1998; 70: 1-15.
  • 21. Klein NA, Illingworth PJ, Groome NP, McNeilly AS, Battaglia DE and Soules MR Decreased inhibin B secretion is associated with the monotropic FSH rise in older, ovulatory women: a study of serum and follicular fluid levels of dimeric inhibin A and B in spontaneous menstrual cycles. J Clin Endocrinol Metab. 1996; 81,2742–2745.
  • 22. Reame NE, Wyman TL, Phillips DJ, de Kretser DM and Padmanabhan V. Net increase in stimulatory input resulting from a decrease in inhibin B and an increase in activin A may contribute in part to the rise in follicular phase follicle-stimulating hormone of aging cycling women. J Clin Endocrinol Metab. 1998; 83,3302–3307.
  • 23. Santoro N, Adel T and Skurnick JH. Decreased inhibin tone and increased activin A secretion characterize reproductive aging in women.Fertil Steril. 1999; 71,658–662.
  • 24. Petraglia F, Hartmann B, Luisi S, Florio P, Kirchengast S, Santuz M, Genazzani AD and Genazzani AR Low levels of serum inhibin A and inhibin B in women with hypergonadotropic amenorrhea and evidence of high levels of activin A İn women with hypothalamic amenorrhea. Fertil Steril. 1998; 70,907–912.
  • 25. Shelling, A.N. Premature ovarian failure. Reproduction. 2010; 140(5) :633-641.
  • 26. Sundblad V, Chiauzzi VA, Andreone L, Campo S, Charreau EH, Dain L. Controversial role of inhibin alpha-subunit gene in the aetiology of prematüre ovarian failure. Hum Reprod., 2006; 21: 1154-60.
  • 27. Dixit H, Deendayal M, Singh L. Mutational analysis of the mature peptide region of inhibin genes in Indian women with ovarian failure. Human Reproduction, 2000; 19(8): 1760-1764.
  • 28. Prakash,G. J.; Kanth, V.V.R.; Shelling, A.N.; Rozat, R. and Sujatha, MMutational analysis of inhibin alpha gene revealed three novel variations in Indian women with premature ovarian failure. Fertility and Sterility, 2010; 94(1): 90-98.
  • 29. Fallahian, M.; Pouresmaeili, F.; Azizi, F.; Zali, M.R.; Samani, E.M. and Kharaziha, P. Existence of Inhibin α-Subunit Gene Mutation in a Population of Iranian Women with Premature Ovarian Failure. Int J Endocrinol Metab., 2009; 2: 67-71.
  • 30. Corre, T.; Schuettler, J.; Bione, S.; Marozzi, A.; Persani, L.; Rossetti, R.; Torricelli, F.; Giotti, I.; Vogt, P. and Toniolo, D. A large-scale association to study the impact of known variants of the human INHA gene on premature ovarian failure. Hum Reprod., 2009; 24:2023-2028.
  • 31. Makanji, Y.; Zhu, J.; Mishra, R.; Holmquist, C.; Wong, W.P.S.; Schwartz, N. B.; Mayo, K. E. and Woodruff,T.K. Inhibin at 90: From Discovery to Clinical Application, a Historical Review. Endocr Rev., 2014; 35(5): 747–794.
  • 32. Al-Sabbagh, Juman Sabri, Mohammad Razzaq, A. Mutations and Variants Analysis of Inhibin Gene Subunits in Women with Premature Ovarian Failure. University of Thi-Qar Journal of Science (UTsci), 2020; Volume 7, No.2.

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

Yıl 2021, Cilt: 46 Sayı: 4, 1581 - 1587, 30.12.2021
https://doi.org/10.17826/cumj.980604

Öz

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.

Proje Numarası

Proje No: TF2003YL9

Kaynakça

  • 1. Vanwesenbeeck I, Vennix P ve Wiel H. ‘Menopausal symptoms’ associations with menopausal status and pysycho social factors. J psychosom Obstet Gynaecol., 2001;22: 149-158.
  • 2. Oskay Ü. Menopoz ve cinsellik. 2.Uluslararası 9. Ulusal Hemşirelik Kongresi, Kadın ve Erkek Cinsel Sağlık Kursu. 9 Eylül 2003.
  • 3. B. S, A. T. Menopozda Hormon Replasman Tedavisi Kullanımı ile İlgili Tartışmalar ve Güncel Yaklaşım. Düzce Tıp Fakültesi Dergisi. 2004; 3:38-43.
  • 4. Coulam B, Adamson C, Anngers F. Incidence of premature ovarian failure. Obstet. Gynecol.,1989; 67, 604-606.
  • 5. Nelson LM. Primary ovarianin sufficiency. New EnglandJournal of Medicine. 2009; 360(6): 606-14.
  • 6. Primer Over Yetersizliği (POY) veya Prematür Over Yetmezliği https://www.tjodistanbul.com/egitim/istanbul-kliniklerinden/infertilite/primer-overyetersizligi-poy-veya-prematur-over-yetmezligi. Erişim Tarihi:14 Dec 2020.
  • 7. Rebar RW, Connolly HV. Clinical features of young women with hypergonadotropic amenorrhea. Obstetrical & Gynecological Survey. 1990;45(11):763-4.
  • 8. Persani L, Rossetti R, Cacciatore C. Genes involved in human premature ovarian failure. J Mol Endocrinol., 2010; 45(5):257-279.
  • 9. Shelling A, Burton K, Chand A, Van Ee C, France J, Farquhar C, Milson S, Love D, Gersak K, Aittomaki K, Winship I. Inhibin: a candidate gene for premature ovarian failure. Human Reproduction., 2000; 15: 2644-2649.
  • 10. Jeong H, Cho S, Kim H, Lee S, Cho J, Choi D, Kwon H, Cha W, Han J, Cha K. G769A Variation of Inhibin alpha gene in Korean Women with Premature Ovarian Failure, Yonsei Medical Journal. 2004; 45: 479-482.
  • 11. Okeke TC, Anyaehie UB, Ezenyeaku CC. Premature Menopause. Ann Med Health Sci Res., 2013; 3: 90-5.
  • 12. A.L. Chand, C.A. Harrison, and A.N. Shelling, Inhibin and premature ovarian failure, Human Reproduction Update, 2010; Vol.16, No.1 pp. 39–50.
  • 13. MacNaughton, J, Banah M, McCloud P. Et al. Age related changes in Follicle stimulating hormone, luteinizing hormone, oestradiol and immunoreactive inhibin in women of reproductive age. Clin. Endocrinol., 1992;36: 339-345.
  • 14. Pampfer S, Thomas, K, Clinical value of inhibin in women. J Gynecol Obstet. Biol. Reprod., Paris, 1989; 18: 279-287.
  • 15. Marozzi A, Porta C, Vegetti W, Crosignani P, Tibiletti M, Dalpra L, Gineli E. Mutation analysis of the inhibin alpha gene in cohort of Italian women affected by ovarian failure. Human reproduction., 2002; 7: 1741-1745.
  • 16. Miller S.A., Dykes D.D. and Polesky H.F. A simple salting out DNA extraction from parafin procedure for extracüng DNA from human nucleated cells. Nucleic Acids Res. 1988; 16, 12-15. 17. MR. Genetik kavramlar. Editör: Öner C. Altıncı baskıdan çeviri. Palme Yayıncılık, 2002; 449-531.
  • 18. Erlich HA. PCR tecnology: principles and applications for DNA amplification 2. Edition, New York: W.H. Freeman, 1992.
  • 19. Erişim: http//www.geneticahumana.lt/MOLGET_pages/PAH-protocols. Erişim Tarihi: 2005.
  • 20. Anasti N. Premature Ovarian Failure – an update. Fertil Steril., 1998; 70: 1-15.
  • 21. Klein NA, Illingworth PJ, Groome NP, McNeilly AS, Battaglia DE and Soules MR Decreased inhibin B secretion is associated with the monotropic FSH rise in older, ovulatory women: a study of serum and follicular fluid levels of dimeric inhibin A and B in spontaneous menstrual cycles. J Clin Endocrinol Metab. 1996; 81,2742–2745.
  • 22. Reame NE, Wyman TL, Phillips DJ, de Kretser DM and Padmanabhan V. Net increase in stimulatory input resulting from a decrease in inhibin B and an increase in activin A may contribute in part to the rise in follicular phase follicle-stimulating hormone of aging cycling women. J Clin Endocrinol Metab. 1998; 83,3302–3307.
  • 23. Santoro N, Adel T and Skurnick JH. Decreased inhibin tone and increased activin A secretion characterize reproductive aging in women.Fertil Steril. 1999; 71,658–662.
  • 24. Petraglia F, Hartmann B, Luisi S, Florio P, Kirchengast S, Santuz M, Genazzani AD and Genazzani AR Low levels of serum inhibin A and inhibin B in women with hypergonadotropic amenorrhea and evidence of high levels of activin A İn women with hypothalamic amenorrhea. Fertil Steril. 1998; 70,907–912.
  • 25. Shelling, A.N. Premature ovarian failure. Reproduction. 2010; 140(5) :633-641.
  • 26. Sundblad V, Chiauzzi VA, Andreone L, Campo S, Charreau EH, Dain L. Controversial role of inhibin alpha-subunit gene in the aetiology of prematüre ovarian failure. Hum Reprod., 2006; 21: 1154-60.
  • 27. Dixit H, Deendayal M, Singh L. Mutational analysis of the mature peptide region of inhibin genes in Indian women with ovarian failure. Human Reproduction, 2000; 19(8): 1760-1764.
  • 28. Prakash,G. J.; Kanth, V.V.R.; Shelling, A.N.; Rozat, R. and Sujatha, MMutational analysis of inhibin alpha gene revealed three novel variations in Indian women with premature ovarian failure. Fertility and Sterility, 2010; 94(1): 90-98.
  • 29. Fallahian, M.; Pouresmaeili, F.; Azizi, F.; Zali, M.R.; Samani, E.M. and Kharaziha, P. Existence of Inhibin α-Subunit Gene Mutation in a Population of Iranian Women with Premature Ovarian Failure. Int J Endocrinol Metab., 2009; 2: 67-71.
  • 30. Corre, T.; Schuettler, J.; Bione, S.; Marozzi, A.; Persani, L.; Rossetti, R.; Torricelli, F.; Giotti, I.; Vogt, P. and Toniolo, D. A large-scale association to study the impact of known variants of the human INHA gene on premature ovarian failure. Hum Reprod., 2009; 24:2023-2028.
  • 31. Makanji, Y.; Zhu, J.; Mishra, R.; Holmquist, C.; Wong, W.P.S.; Schwartz, N. B.; Mayo, K. E. and Woodruff,T.K. Inhibin at 90: From Discovery to Clinical Application, a Historical Review. Endocr Rev., 2014; 35(5): 747–794.
  • 32. Al-Sabbagh, Juman Sabri, Mohammad Razzaq, A. Mutations and Variants Analysis of Inhibin Gene Subunits in Women with Premature Ovarian Failure. University of Thi-Qar Journal of Science (UTsci), 2020; Volume 7, No.2.
Toplam 31 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Konular Klinik Tıp Bilimleri
Bölüm Araştırma
Yazarlar

Hülya Arıkan Ceylan 0000-0003-1869-3290

Proje Numarası Proje No: TF2003YL9
Yayımlanma Tarihi 30 Aralık 2021
Kabul Tarihi 7 Ekim 2021
Yayımlandığı Sayı Yıl 2021 Cilt: 46 Sayı: 4

Kaynak Göster

MLA Arıkan Ceylan, Hülya. “Çukurova bölgesi prematür Menopoz hastalarında Inhibin Alfa (769 G→A) Gen Mutasyonunun araştırılması”. Cukurova Medical Journal, c. 46, sy. 4, 2021, ss. 1581-7, doi:10.17826/cumj.980604.