Volume 13, Issue 9 (10-2015)                   IJRM 2015, 13(9): 563-570 | Back to browse issues page

XML Persian Abstract Print


Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:

Motovali-Bashi M, Rezaei Z, Dehghanian F, Rezaei H. Multiplex PCR based screening for micro/partial deletions in the AZF region of Y-chromosome in severe oligozoospermic and azoospermic infertile men in Iran. IJRM 2015; 13 (9) :563-570
URL: http://ijrm.ir/article-1-855-en.html
1- Division of Genetics, Department of Biology, Faculty of Sciences, University of Isfahan, Isfahan, Iran , mbashi@sci.ui.ac.ir
2- Division of Genetics, Department of Biology, Faculty of Sciences, University of Isfahan, Isfahan, Iran
Abstract:   (3098 Views)
Background: Infertility is a health problem which affects about 10-20% of married couples. Male factor infertility is involved approximately 50% of infertile couples. Most of male infertility is regarding to deletions in the male-specific region of the Y chromosome.
Objective: In this study, the occurrence of deletions in the AZF region and association between infertility and paternal age were investigated in Iranian men population.
Materials and Methods: To assess the occurrence of Y chromosomal microdeletions and partial deletions of the AZF region, 100 infertile men and 100 controls with normal spermatogenesis were analyzed. AZFa, AZFb, AZFc and partial deletions within the AZFc region were analyzed using multiplex PCR method. Finally, the association between paternal age and male infertility was evaluated.
Results: No AZFa, AZFb or AZFc deletions were found in the control group. Seven infertile men had deletions as the following: one AZFb, five AZFc, and one AZFab. Partial deletions of AZFc (gr/gr) in 9 of the 100 infertile men (9/100, 9%) and 1 partial AZFc deletions (gr/gr) in the control group (1/100, 1%) were observed. In addition, five b2/b3 deletions in five azoospermic subjects (5/100, 5%) and 2 partial AZFc deletions (b2/b3) in the control group (2/100, 2%) were identified. Moreover, the risk of male infertility was influenced by the paternal age.
Conclusion: The results of this study suggested that the frequency of Y chromosome AZF microdeletions increased in subjects with severe spermatogenic failure and gr/gr deletion associated with spermatogenic failure.
Full-Text [PDF 258 kb]   (585 Downloads) |   |   Full-Text (HTML)  (467 Views)  
Type of Study: Original Article |

References
1. Mitra A, Dada R, Kumar R, Gupta NP, Kucheria K, Gupta SK. Screening for Y-chromosome microdeletions in infertile Indian males: utility of simplified multiplex PCR. Indian J Med Res 2008; 127: 124-132.
2. Vineeth VS, Malini SS. A journey on Y chromosomal genes and male infertility. Int J Hum Genet 2011, 11: 203-215. [DOI:10.1080/09723757.2011.11886144]
3. Hopps CV, Mielnik A, Goldstein M, Palermo GD, Rosenwaks Z, Schlegel PN. Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb and AZFc regions. Hum Reprod 2003; 18: 1660-1665. [DOI:10.1093/humrep/deg348]
4. Iijima M, Koh E, Izumi K, Taya M, Maeda Y, Kyono K, et al. New molecular diagnostic kit to assess Y-chromosome deletions in the Japanese population. Int J Urol 2014; 21: 910-916. [DOI:10.1111/iju.12467]
5. Krausz C, Chianese C. Genetic testing and counselling for male infertility. Curr Opin Endocrinol Diabetes Obes 2014; 21: 244-250. [DOI:10.1097/MED.0000000000000058]
6. Hotaling J, Carrell DT. Clinical genetic testing for male factor infertility: current applications and future directions. Andrology 2014; 2: 339-350. [DOI:10.1111/j.2047-2927.2014.00200.x]
7. Stouffs K, Tournaye H, Van der Elst J, Haentjens P, Liebaers I, Lissens W. Do we need to search for gr/gr deletions in infertile men in a clinical setting? Hum Reprod 2008; 23: 1193-1199. [DOI:10.1093/humrep/den069]
8. Fernando L, Gromoll J, Weerasooriya TR, Nieschlag E, Simoni M. Y-chromosomal microdeletions and partial deletions of the azoospermia factor c (AZFc) region in normozoospermic, severe oligozoospermic and azoospermic men in Sri Lanka. Asian J Androl 2006; 8: 39-44. [DOI:10.1111/j.1745-7262.2006.00100.x]
9. Ferlin A, Tessari A, Ganz F, Marchina E, Barlati S, Garolla A, et al. Association of partial AZFc region deletions with spermatogenic impairment and male infertility. J Med Genet 2005; 42: 209-213. [DOI:10.1136/jmg.2004.025833]
10. Giachini C, Guarducci E, Longepied G, DeglInnocenti S, Becherini L, Forti G, et al. The gr/gr deletion (s): a new genetic test in male infertility? J Med Genet 2005; 42: 497-502. [DOI:10.1136/jmg.2004.028191]
11. Lynch M, Cram DS, Reilly A, O'Bryan MK, Baker HWG, De Kretser DM, et al. The Y chromosome gr/gr subdeletion is associated with male infertility. Mol Hum Reprod 2005; 11: 507-512. [DOI:10.1093/molehr/gah191]
12. Machev N, Saut N, Longepied G, Terriou P, Navarro A, Levy N, et al. Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility. J Med Genet 2004; 41: 814-825. [DOI:10.1136/jmg.2004.022111]
13. Hucklenbroich K, Gromoll J, Heinrich M, Hohoff C, Nieschlag E, Simoni M. Partial deletions in the AZFc region of the Y chromosome occur in men with impaired as well as normal spermatogenesis. Hum Reprod 2005; 20: 191-197. [DOI:10.1093/humrep/deh558]
14. de Carvalho CM, Zuccherato LW, Fujisawa M, Shirakawa T, Ribeiro-dos-Santos AK, Santos SE, et al. Study of AZFc partial deletion gr/gr in fertile and infertile Japanese males. J Hum Genet 2006; 51: 794-799. [DOI:10.1007/s10038-006-0024-2]
15. Carvalho CM, Zuccherato LW, Bastos-Rodrigues L, Santos FcR, Pena SD. No association found between gr/gr deletions and infertility in Brazilian males. Mol Hum Reprod 2006; 12: 269-273. [DOI:10.1093/molehr/gal029]
16. Ravel C, Chantot-Bastaraud S, El Houate B, Mandelbaum J, Siffroi J-P, McElreavey K. GR/GR deletions within the azoospermia factor c region on the Y chromosome might not be associated with spermatogenic failure. Fertil Steril 2006; 85: 229-231. [DOI:10.1016/j.fertnstert.2005.07.1278]
17. Bunyan DJ, Callaway JL, Laddach N. Detection of Partial Deletions of Y-chromosome AZFc in Infertile Men Using the Multiplex Ligation-dependent Probe Amplification Assay. J Reprod Infertil 2012; 13: 174-178.
18. Wu B, Lu NX, Xia YK, Gu AH, Lu CC, Wang W, et al. A frequent Y chromosome b2/b3 subdeletion shows strong association with male infertility in Han-Chinese population. Hum Reprod 2007; 22: 1107-1113. [DOI:10.1093/humrep/del499]
19. Repping S, van Daalen SK, Korver CM, Brown LG, Marszalek JD, Gianotten J, et al. A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region. Genomics 2004; 83: 1046-1052. [DOI:10.1016/j.ygeno.2003.12.018]
20. Fernandes S, Paracchini S, Meyer LH, Floridia G, Tyler-Smith C, Vogt PH. A Large AZFc Deletion Removes DAZ3/DAZ4 and Nearby Genes from Men in Y Haplogroup N. Am J Hum Genet 2004; 74: 180-187. [DOI:10.1086/381132]
21. Repping S, Skaletsky H, Brown L, van Daalen SK, Korver CM, Pyntikova T, et al. Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection. Nature genetics 2003; 35: 247-251. [DOI:10.1038/ng1250]
22. de Llanos M, Ballescà JLs, Gázquez C, Margarit E, Oliva R. High frequency of gr/gr chromosome Y deletions in consecutive oligospermic ICSI candidates. Hum Reprod 2005; 20: 216-220. [DOI:10.1093/humrep/deh582]
23. Singh NP, Muller CH, Berger RE. Effects of age on DNA double-strand breaks and apoptosis in human sperm. Fertil Steril 2003; 80: 1420-1430. [DOI:10.1016/j.fertnstert.2003.04.002]
24. Schmid TE, Eskenazi B, Baumgartner A, Marchetti F, Young S, Weldon R, et al. The effects of male age on sperm DNA damage in healthy non-smokers. Hum Reprod 2007; 22: 180-187. [DOI:10.1093/humrep/del338]
25. Cooper TG, Noonan E, Von Eckardstein S, Auger J, Baker HG, Behre HM, et al. World Health Organization reference values for human semen characteristics. Human reproduction update. 2009:dmp048.
26. Miller S, Dykes D, Polesky H. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215. [DOI:10.1093/nar/16.3.1215]
27. Kuroda-Kawaguchi T, Skaletsky H, Brown LG, Minx PJ, Cordum HS, Waterston RH, et al. The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet 2001; 29: 279-286. [DOI:10.1038/ng757]
28. Krausz C, Quintana-Murci L, McElreavey K. Prognostic value of Y deletion analysis What is the clinical prognostic value of Y chromosome microdeletion analysis? Hum Reprod 2000; 15: 1431-1434. [DOI:10.1093/humrep/15.7.1431]
29. Yuen RKC, Merkoulovitch A, MacDonald JR, Vlasschaert M, Lo K, Grober E, et al. Development of a high-resolution Y-chromosome microarray for improved male infertility diagnosis. Fertil Steril 2014; 101: 1079-1085. [DOI:10.1016/j.fertnstert.2013.12.027]
30. Foresta C, Bettella A, Moro E, Roverato A, Merico M, Ferlin A. Sertoli Cell Function in Infertile Patients with and without Microdeletions of the Azoospermia Factors on the Y Chromosome Long Arm 1. J Clin Endocrinol Metab 2001; 86: 2414-2419. [DOI:10.1210/jc.86.6.2414]
31. Shahid M, Dhillon VS, Khalil HS, Sexana A, Husain SA. Associations of Y-chromosome subdeletion gr/gr with the prevalence of Y-chromosome haplogroups in infertile patients. Eur J Hum Genet 2010; 19: 23-29. [DOI:10.1038/ejhg.2010.151]
32. Maurer B, Gromoll J, Simoni M, Nieschlag E. Prevalence of Y chromosome microdeletions in infertile men who consulted a tertiary care medical centre: the Munster experience. Andrologia 2001; 33: 27-33. [DOI:10.1046/j.1439-0272.2001.00406.x]
33. Sheikhha MH, Zaimy MA, Soleimanian S, Kalantar SM, Rasti A, Golzade M, et al. Multiplex PCR Screening of Y-chromosome microdeletions in azoospermic ICSI candidate men. Iran J Reprod Med 2013;11:335.
34. Zaimy MA, Kalantar SM, Sheikhha MH, Jahaninejad T, Pashaiefar H, Ghasemzadeh J, et al. The frequency of Yq microdeletion in azoospermic and oligospermic Iranian infertile men. Iran J Reprod Med 2013;11:453.
35. Ambasudhan R, Singh K, Agarwal JK, Singh SK, Khanna A, Sah RK, et al. Idiopathic cases of male infertility from a region in India show low incidence of Y-chromosome microdeletion. J Biosci 2003; 28: 605-612. [DOI:10.1007/BF02703336]
36. Kato H, Komori S, Nakata Y, Sakata K, Kanazawa R-i, Handa M, et al. Screening for deletions in interval D1-22 of the Y chromosome in azoospermic and oligozoospermic Japanese men. J Hum Genet 2001; 46: 110-114. [DOI:10.1007/s100380170097]
37. Thangaraj K, Gupta NJ, Pavani K, Reddy AG, Subramainan S, Rani DS, et al. Y chromosome deletions in azoospermic men in India. J Androl 2003; 24: 588-597. [DOI:10.1002/j.1939-4640.2003.tb02710.x]
38. Chiang H-S, Yeh S-D, Wu C-C, Huang B-C, Tsai H-J, Fang C-L. Clinical and pathological correlation of the microdeletion of Y chromosome for the 30 patients with azoospermia and severe oligoasthenospermia. Asian J Androl 2004; 6: 369-375.
39. Rozen SG, Marszalek JD, Irenze K, Skaletsky H, Brown LG, Oates RD, et al. AZFc Deletions and Spermatogenic Failure: A Population-Based Survey of 20,000 Y Chromosomes. Ame J Hum Genet 2012; 91: 890-896. [DOI:10.1016/j.ajhg.2012.09.003]
40. Kamp C, Huellen K, Fernandes S, Sousa M, Schlegel PN, Mielnik A, et al. High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome. Mol Hum Reprod 2001; 7: 987-994. [DOI:10.1093/molehr/7.10.987]
41. Foresta C, Ferlin A, Moro E, Marin P, Rossi A, Scandellari C. Microdeletion of chromosome Y in male infertility: role of the DAZ gene. Ann Ital Med Int 2000; 16: 82-92.
42. Evenson DP, Wixon R. Clinical aspects of sperm DNA fragmentation detection and male infertility. Theriogenology 2006; 65: 979-991. [DOI:10.1016/j.theriogenology.2005.09.011]
43. Aitken RJ, Krausz C. Oxidative stress, DNA damage and the Y chromosome. Reproduction 2001; 122: 497-506. [DOI:10.1530/rep.0.1220497]

Send email to the article author


Rights and permissions
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

Designed & Developed by : Yektaweb