Testiküler Azospermili Erkeklerde Y Kromozomunda Azospermi Faktör Mikrodelesyonlarının Polimeraz Zincir Reaksiyonuyla Belirlenmesi

Murat Uluğ; Belgin Süsleyici Duman; Ayşe Arvas Uluğ; Teksen Çamlıbel

Testiküler Azospermili Erkeklerde Y Kromozomunda Azospermi Faktör Mikrodelesyonlarının Polimeraz Zincir Reaksiyonuyla Belirlenmesi

Year 2006, Volume: 37 Issue: 4, 126 - 130, 19.07.2014

Murat Uluğ Belgin Süsleyici Duman Ayşe Arvas Uluğ Teksen Çamlıbel

Abstract

Y kromozomu delesyonları, ağır erkek infertilitesi ile ilişkilidir. Karyotip analizi ve sitogenetik yöntemlerle yapılan çalışmalarda, Y kromozomunun spermatogenezdeki önemi anlaşılmıştır. Y kromozomunun uzun kolunun distal bölgesindeki azospermi faktörü (AZF) bölgesi mikrodelesyonlarının, spermatogenezi engellediği ortaya konmuştur. Bu çalışmada, Y kromozomunda AZF mikrodelesyonlarının varlığının araştırılması amaçlanmıştır. Azospermili, oligozoospermili ve normozoospermili 45 erkeğe ait AZF mikrodelesyonları polimeraz zincir reaksiyonu metodu ile saptandı. Y kromozomu mikrodelesyonlarını tespit etmek için AZFa AZFb ve AZFc bölgelerine ait 2’şer adet sequence tagged sites (STS) bölgesi kullanıldı. Kullanılan STS bölgeleri: AZFa için, sY84 ve sY86; AZFb için, sY127ve sY134; AZFc için ise, sY254 ve sY255’dir. Çalışmamızda azospermi grubundaki erkeklerden birinde 400 bç’lik sY254 (AZFc) ve 2 erkekte 126 bç’lik sY255 (AZFc) mikrodelesyonu bulundu. Oligozoospermi ve normozoospermi grubundaki erkeklerde araştırılan STS bölgelerine ait herhangi bir mikrodelesyon tespit edilmedi. Elde edilen sonuçlar, genetik faktörlerin infertil erkeklerde sperm üretimini etkileyebileceğini ve azospermili erkeklerde Y kromozomu mikrodelesyonlarının infertilite sebebi olabileceğini göstermektedir.

Keywords

Azospermi, kısırlık-erkek genetik faktörler, polimeraz zincir reaksiyonu

References

1. Thonneau P, Marchand S, Tallec A, et al. Incidence and main causes of infertility in a resident population (1.850.000) of three French region. Hum Rep 1991; 6: 811-816.
2. DeBraekeleer M, Dao TN. Cytogenetic studies in male infertility:a review. Hum Rep 1991; 6: 245-250.
3. Reijo R, Lee TY, Salo P, et al. Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet 1995; 10: 383-393.
4. Reijo R, Alagappan RK, Patrizio P, et al. Severe oligozoospermia resulting from deletions of azoospermia factor gene on Y chromosome. Lancet 1996; 347: 1290-1293.
5. Vogt PH, Edelmann A, Kirsch S, et al. Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet 1996; 5: 933- 943.
6. Brandell RA, Mielnik A, Liotta D, et al. AZFb deletions predict the absence of spermatozoa with testicular sperm extraction: preliminary report of a prognostic genetic test. Hum Rep 1998; 13: 2812-2815.
7. Tiepolo L, Zuffardi O. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet 1976; 34: 119-124.
8. Chandley AC, Gosden JR, Hargreave TB, et al. Deleted Yq in the sterile son of a man with a satellited Y chromosome. J Med Genet 1989; 26: 145-153.
9. Hartung M, Devictor M, Codaccioni JL, et al. Yq deletion and failure of spermatogenesis. Ann Genet 1988; 31: 21-26.
10. Andersson M, Page DC, Pettay D, et al. Autosome translocations and mosaicism in the aetiology of 45 X maleness: assignment of fertility factor to distal Yq11. Hum Genet 1988; 79: 2-7.
11. Bardoni B, Zuffardi O, Guioli S, et al. A deletion map of the human Yq11 region: implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis. Genomics 1991; 11: 443-451.
12. Ma K, Sharkey A, Kirsch S, et al. Towards the molecular localization of the AZF locus: mapping of microdeletions in azoospermic men within 14 subintervals of interval 6 of the human chromosome. Hum Mol Genet 1992; 1: 29-33.
13. WHO Manuel: Sperm Servical Mucus Interaction. 1999.
14. Vogt PH, Affara N, Davey P, et al. Report on the third international workshop on Y chromosome mapping. Cyto Cell Genet 1997; 79: 1-20.
15. Simoni M, Bakker E, Eurlings MC, Matthijs G, Moro E, Muller CR, Vogt PH. Laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions. Int J Androl 1999; 22: 292-299.
16. Krausz C, Quintana L, McElreavey K. Prognostic value of Y deletion analysis: what is the clinical prognostic value of Y chromosome microdeletion analysis. Hum Rep 2000; 15: 1431-1434.
17. Vogt PH. Human chromosome deletions in Yq11, AZF candidate genes and male infertility: history and update. Mol Hum Rep 1998; 4: 739-744.
18. Najmabadi H, Huang V, Yen P, et al. Substantial prevalence of microdeletions of the Y-chromosome in infertile men with idiopathic azoospermia and oligozoospermia detected using a sequence-tagged sitebased mapping strategy. J Clin Endocrinol Metab 1996; 81: 1347-1352.
19. Foresta C, Ferlin A, Garolla A, et al. Y-chromosome deletions in idiopathic severe testiculopathies. J Clin Endocrinol Metab 1997 82: 1075-1080.
20. Simoni M, Kamischke A, Nieschlag E. Current status of the molecular diagnosis of Y-chromosomal microdeletions in the work-up of male. Hum Rep 1991; 8: 1768-1770.
21. Girardi SK, Mielnik A, Schlegel P. Submicroscopic deletions in the Y chromosome of infertile men. Hum Rep 1997; 12: 1635-1641.
22. Kent MG, Kol S, Muallem A, et al. The incidence and possible relevance of Y-linked microdeletions in babies born after intracytoplasmic sperm injection and their infertile fathers. Mol Hum Rep 1996; 2:943-959.
23. Kremer J, Tuerlings J, Meuleman E, et al. Microdeletions of the Y-chromosome and intracytoplasmic sperm injection: from gene to clinic. Hum Rep 1997; 12: 687-691.
24. Qureshi SJ, Ross AR, Ma K, et al. Polymerase chain reaction screening for Y chromosome microdeletions: a first step towards the diagnosis of genetically-determined spermatogenic failure in men. Mol Hum Rep 1996; 2,:775-779.
25. Stuppia L, Mastroprimiano G, Calabrese G, et al. Microdeletions in interval 6 of the Y chromosome detected by STS-PCR in 6 of 33 patients with idiopathic oligo- or azoospermia. Cyto Cell Genet 1996; 72: 155-158.
26. Kobayashi K, Mizuno K, Hida A, et al. PCR analysis of the Y chromosome long arm in azoospermic patients: evidence for a second locus required for spermatogenesis. Hum Mol Genet 1994; 3: 965-1967.
27. Van der Ven K, Montag M, Peschka B, et al. Combined cytogenetic and Y chromosome microdeletion screening in males undergoing ICSI. Mol Hum Reprod 1997; 3: 699-704.
28. Pryor JL, Kent M, Muallem A, et al. Microdeletion of the Y chromosome of infertile men. N Eng J Med 1997; 336: 534-539.
29. Vereb M, Agulnik AI, Houston JT, et al. Absence of DAZ gene mutations in cases of non-obstructed azoospermia. Mol Hum Rep 1997; 3: 55-59.
30. Ferlin A, Moro E, Garolla, A. Human male infertility and Y chromosome deletions: role of the AZF-candidate genes DAZ, RBM and DFFRY. Hum Rep 1999; 14: 1710-1716.
31. Kamischke A, Gromoll J, Simoni M, et al. Transmission of a Y-chromosomal deletion involving the DAZ and CDY genes from father to son though ICSI. Hum Rep 1999; 14: 2635-2639.

Year 2006, Volume: 37 Issue: 4, 126 - 130, 19.07.2014

Murat Uluğ Belgin Süsleyici Duman Ayşe Arvas Uluğ Teksen Çamlıbel

Abstract

References

1. Thonneau P, Marchand S, Tallec A, et al. Incidence and main causes of infertility in a resident population (1.850.000) of three French region. Hum Rep 1991; 6: 811-816.
2. DeBraekeleer M, Dao TN. Cytogenetic studies in male infertility:a review. Hum Rep 1991; 6: 245-250.
3. Reijo R, Lee TY, Salo P, et al. Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet 1995; 10: 383-393.
4. Reijo R, Alagappan RK, Patrizio P, et al. Severe oligozoospermia resulting from deletions of azoospermia factor gene on Y chromosome. Lancet 1996; 347: 1290-1293.
5. Vogt PH, Edelmann A, Kirsch S, et al. Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet 1996; 5: 933- 943.
6. Brandell RA, Mielnik A, Liotta D, et al. AZFb deletions predict the absence of spermatozoa with testicular sperm extraction: preliminary report of a prognostic genetic test. Hum Rep 1998; 13: 2812-2815.
7. Tiepolo L, Zuffardi O. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet 1976; 34: 119-124.
8. Chandley AC, Gosden JR, Hargreave TB, et al. Deleted Yq in the sterile son of a man with a satellited Y chromosome. J Med Genet 1989; 26: 145-153.
9. Hartung M, Devictor M, Codaccioni JL, et al. Yq deletion and failure of spermatogenesis. Ann Genet 1988; 31: 21-26.
10. Andersson M, Page DC, Pettay D, et al. Autosome translocations and mosaicism in the aetiology of 45 X maleness: assignment of fertility factor to distal Yq11. Hum Genet 1988; 79: 2-7.
11. Bardoni B, Zuffardi O, Guioli S, et al. A deletion map of the human Yq11 region: implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis. Genomics 1991; 11: 443-451.
12. Ma K, Sharkey A, Kirsch S, et al. Towards the molecular localization of the AZF locus: mapping of microdeletions in azoospermic men within 14 subintervals of interval 6 of the human chromosome. Hum Mol Genet 1992; 1: 29-33.
13. WHO Manuel: Sperm Servical Mucus Interaction. 1999.
14. Vogt PH, Affara N, Davey P, et al. Report on the third international workshop on Y chromosome mapping. Cyto Cell Genet 1997; 79: 1-20.
15. Simoni M, Bakker E, Eurlings MC, Matthijs G, Moro E, Muller CR, Vogt PH. Laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions. Int J Androl 1999; 22: 292-299.
16. Krausz C, Quintana L, McElreavey K. Prognostic value of Y deletion analysis: what is the clinical prognostic value of Y chromosome microdeletion analysis. Hum Rep 2000; 15: 1431-1434.
17. Vogt PH. Human chromosome deletions in Yq11, AZF candidate genes and male infertility: history and update. Mol Hum Rep 1998; 4: 739-744.
18. Najmabadi H, Huang V, Yen P, et al. Substantial prevalence of microdeletions of the Y-chromosome in infertile men with idiopathic azoospermia and oligozoospermia detected using a sequence-tagged sitebased mapping strategy. J Clin Endocrinol Metab 1996; 81: 1347-1352.
19. Foresta C, Ferlin A, Garolla A, et al. Y-chromosome deletions in idiopathic severe testiculopathies. J Clin Endocrinol Metab 1997 82: 1075-1080.
20. Simoni M, Kamischke A, Nieschlag E. Current status of the molecular diagnosis of Y-chromosomal microdeletions in the work-up of male. Hum Rep 1991; 8: 1768-1770.
21. Girardi SK, Mielnik A, Schlegel P. Submicroscopic deletions in the Y chromosome of infertile men. Hum Rep 1997; 12: 1635-1641.
22. Kent MG, Kol S, Muallem A, et al. The incidence and possible relevance of Y-linked microdeletions in babies born after intracytoplasmic sperm injection and their infertile fathers. Mol Hum Rep 1996; 2:943-959.
23. Kremer J, Tuerlings J, Meuleman E, et al. Microdeletions of the Y-chromosome and intracytoplasmic sperm injection: from gene to clinic. Hum Rep 1997; 12: 687-691.
24. Qureshi SJ, Ross AR, Ma K, et al. Polymerase chain reaction screening for Y chromosome microdeletions: a first step towards the diagnosis of genetically-determined spermatogenic failure in men. Mol Hum Rep 1996; 2,:775-779.
25. Stuppia L, Mastroprimiano G, Calabrese G, et al. Microdeletions in interval 6 of the Y chromosome detected by STS-PCR in 6 of 33 patients with idiopathic oligo- or azoospermia. Cyto Cell Genet 1996; 72: 155-158.
26. Kobayashi K, Mizuno K, Hida A, et al. PCR analysis of the Y chromosome long arm in azoospermic patients: evidence for a second locus required for spermatogenesis. Hum Mol Genet 1994; 3: 965-1967.
27. Van der Ven K, Montag M, Peschka B, et al. Combined cytogenetic and Y chromosome microdeletion screening in males undergoing ICSI. Mol Hum Reprod 1997; 3: 699-704.
28. Pryor JL, Kent M, Muallem A, et al. Microdeletion of the Y chromosome of infertile men. N Eng J Med 1997; 336: 534-539.
29. Vereb M, Agulnik AI, Houston JT, et al. Absence of DAZ gene mutations in cases of non-obstructed azoospermia. Mol Hum Rep 1997; 3: 55-59.
30. Ferlin A, Moro E, Garolla, A. Human male infertility and Y chromosome deletions: role of the AZF-candidate genes DAZ, RBM and DFFRY. Hum Rep 1999; 14: 1710-1716.
31. Kamischke A, Gromoll J, Simoni M, et al. Transmission of a Y-chromosomal deletion involving the DAZ and CDY genes from father to son though ICSI. Hum Rep 1999; 14: 2635-2639.

There are 31 citations in total.

Details

Primary Language	Turkish
Journal Section	Araştırmalar
Authors	Murat Uluğ This is me Belgin Süsleyici Duman This is me Ayşe Arvas Uluğ This is me Teksen Çamlıbel This is me
Publication Date	July 19, 2014
Published in Issue	Year 2006 Volume: 37 Issue: 4

Cite

APA	Uluğ, M., Süsleyici Duman, B., Arvas Uluğ, A., Çamlıbel, T. (2014). Testiküler Azospermili Erkeklerde Y Kromozomunda Azospermi Faktör Mikrodelesyonlarının Polimeraz Zincir Reaksiyonuyla Belirlenmesi. Cerrahpaşa Tıp Dergisi, 37(4), 126-130.
AMA	Uluğ M, Süsleyici Duman B, Arvas Uluğ A, Çamlıbel T. Testiküler Azospermili Erkeklerde Y Kromozomunda Azospermi Faktör Mikrodelesyonlarının Polimeraz Zincir Reaksiyonuyla Belirlenmesi. Cerrahpaşa Tıp Dergisi. July 2014;37(4):126-130.
Chicago	Uluğ, Murat, Belgin Süsleyici Duman, Ayşe Arvas Uluğ, and Teksen Çamlıbel. “Testiküler Azospermili Erkeklerde Y Kromozomunda Azospermi Faktör Mikrodelesyonlarının Polimeraz Zincir Reaksiyonuyla Belirlenmesi”. Cerrahpaşa Tıp Dergisi 37, no. 4 (July 2014): 126-30.
EndNote	Uluğ M, Süsleyici Duman B, Arvas Uluğ A, Çamlıbel T (July 1, 2014) Testiküler Azospermili Erkeklerde Y Kromozomunda Azospermi Faktör Mikrodelesyonlarının Polimeraz Zincir Reaksiyonuyla Belirlenmesi. Cerrahpaşa Tıp Dergisi 37 4 126–130.
IEEE	M. Uluğ, B. Süsleyici Duman, A. Arvas Uluğ, and T. Çamlıbel, “Testiküler Azospermili Erkeklerde Y Kromozomunda Azospermi Faktör Mikrodelesyonlarının Polimeraz Zincir Reaksiyonuyla Belirlenmesi”, Cerrahpaşa Tıp Dergisi, vol. 37, no. 4, pp. 126–130, 2014.
ISNAD	Uluğ, Murat et al. “Testiküler Azospermili Erkeklerde Y Kromozomunda Azospermi Faktör Mikrodelesyonlarının Polimeraz Zincir Reaksiyonuyla Belirlenmesi”. Cerrahpaşa Tıp Dergisi 37/4 (July 2014), 126-130.
JAMA	Uluğ M, Süsleyici Duman B, Arvas Uluğ A, Çamlıbel T. Testiküler Azospermili Erkeklerde Y Kromozomunda Azospermi Faktör Mikrodelesyonlarının Polimeraz Zincir Reaksiyonuyla Belirlenmesi. Cerrahpaşa Tıp Dergisi. 2014;37:126–130.
MLA	Uluğ, Murat et al. “Testiküler Azospermili Erkeklerde Y Kromozomunda Azospermi Faktör Mikrodelesyonlarının Polimeraz Zincir Reaksiyonuyla Belirlenmesi”. Cerrahpaşa Tıp Dergisi, vol. 37, no. 4, 2014, pp. 126-30.
Vancouver	Uluğ M, Süsleyici Duman B, Arvas Uluğ A, Çamlıbel T. Testiküler Azospermili Erkeklerde Y Kromozomunda Azospermi Faktör Mikrodelesyonlarının Polimeraz Zincir Reaksiyonuyla Belirlenmesi. Cerrahpaşa Tıp Dergisi. 2014;37(4):126-30.

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