Volume 11, Issue 3 (5-2013)                   IJRM 2013, 11(3): 219-0 | Back to browse issues page

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Suganthi R, Vijesh V, Jayachandran S, Fathima Benazir J A. Multiplex PCR based screening for microdeletions in azoospermia factor region of Y chromosome in azoospermic and severe oligozoospermic south Indian men. IJRM 2013; 11 (3) :219-0
URL: http://ijrm.ir/article-1-393-en.html
Multiplex PCR based screening for microdeletions in azoospermia factor region of Y chromosome in azoospermic and severe oligozoospermic south Indian men
Ramaswamy Suganthi * 1, VV Vijesh2 , Sanjay Jayachandran2 , Jahangir Ali Fathima Benazir2
1- Department of Biotechnology, Dr. G. R. Damodaran College of Sciences, Coimbatore, 641014, India , sugantham2000@gmail.com
2- Department of Biotechnology, Dr. G. R. Damodaran College of Sciences, Coimbatore, 641014, India
Abstract:   (3740 Views)
Background: Y chromosomal microdeletion is an important genetic disorder, which may arise due to intrachromosomal recombination between homologous sequences in the male specific region of the human Y chromosome. It is frequently associated with the quantitative reduction of sperm. The screening for Y chromosomal microdeletions has a great clinical value.
Objective: To develop a sequence tagged site (STS) based multiplex PCR protocol, which could be specific for the rapid detection of AZF deletions and thereby estimating the frequency of AZF sub deletions in infertile South Indian men.
Materials and Methods: In the current study, PCR based Y chromosomal microdeletion screening analysis was performed in 75 men including 30 non-obstructive azoospermic men, 20 severe oligozoospermic, and 25 normozoospermic fertile men (controls) using 15 known STS primer pairs mapped within the AZF locus. Deletion frequency was estimated after successful PCR amplification.
Results: We designed and optimized a STS based multiplex PCR protocol, which could be helpful for the clinicians to detect the Y chromosomal deletions rapidly and specifically. In our study, we estimated an overall deletion frequency of 36%. Among these 12 (40%) were azoospermic and 6 (30%) were oligozoospermic. No microdeletions were observed in normozoospermic fertile men.
Conclusion: Our Study emphasizes the fact that Y chromosomal microdeletion screening tests are unavoidable in the workup of idiopathic male infertility. Mandatory screening for Y deletions should be done in all azoospermic and severe oligozoospermic patients before undergoing assisted reproductive technology.
Keywords: Y chromosomal microdeletions, AZF region, Male infertility, Multiplex PCR.
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References
1. Boivin J, Bunting L, Collins JA, Nygren KG. International estimates of infertility prevalence and treatment seeking: potential need and demand for infertility medical care. Hum Reprod 2007; 22:1506-1512. [DOI:10.1093/humrep/dem046]
2. World Health Organization .Towards more objectivity in diagnosis and management of male fertility. Int J Androl 1997; 7: 1-53.
3. Dohle GR, Colpi GM, Papp GK, Hargreave TB, Jungwirth A, Weidner W. EAU guidelines on male infertility. Eur Urol 2005; 48: 703-711. [DOI:10.1016/j.eururo.2005.06.002]
4. Sharpe RM, Irvine DS. How strong is the evidence of a link between environmental chemicals and adverse effects on human reproductive health. BMJ 2004; 328:447-451. [DOI:10.1136/bmj.328.7437.447]
5. Krausz C. Genetic Aspects of Male Infertility. Eur Urol Rev 2008; 3: 93-96.
6. Martínez-Garza SG, Gallegos-Rivas MC, Vargas-Maciel M, Rubio-Rubio JM, de Los Monteros-Rodríguez ME, González-Ortega C, et al. Genetic screening in infertile Mexican men: chromosomal abnormalities, Y chromosome deletions, and androgen receptor CAG repeat length. J Androl 2008; 29: 654-660. [DOI:10.2164/jandrol.107.004309]
7. Palermo G, Joris H, Devroey P, Van Steirteghem AC. Pregnancies after intracytoplasmic injection of a single spermatozoon into an oocyte. Lancet 1992; 340: 17-18. [DOI:10.1016/0140-6736(92)92425-F]
8. Nudel DM, Lipshultz LI. Is Intracytoplasmic Sperm Injection Safe? Current Status and Future Concerns. Curr Uro Rep 2001; 2: 423-431. [DOI:10.1007/s11934-001-0034-8]
9. Kent-First M, Muallem A, Shultz J, Pryor J, Roberts K, Nolten W, et al. Defining regions of the Y-chromosome responsible for male infertility and identification of a fourth AZF region (AZFd) by Y-chromosome microdeletion detection. Mol Reprod Dev 1999; 53: 27-41. https://doi.org/10.1002/(SICI)1098-2795(199905)53:1<27::AID-MRD4>3.0.CO;2-W [DOI:10.1002/(SICI)1098-2795(199905)53:13.0.CO;2-W]
10. Bonduelle M, Van Assche E, Joris H, Keymolen K, Devroey P, Van Steirteghem A, et al. Prenatal testing in ICSI pregnancies: incidence of chromosomal anomalies in 1586 karyotypes and relation to sperm parameters. Hum Reprod 2002; 17: 2600-2614. [DOI:10.1093/humrep/17.10.2600]
11. Kallen B, Finnstrom O, Nygren KG, Olausson PO. In vitro fertilisation (IVF) in Sweden: risk for congenital malformations after different IVF methods. Birth Defects. Res A Clin Mol Teratol 2005; 73: 162-169.
12. Feng C, Wang LQ, Dong MY, Huang HF. Assisted reproductive technology may increase clinical mutation detection in male offspring. Fertil Steril 2008; 90: 92-96. [DOI:10.1016/j.fertnstert.2007.06.004]
13. Kai CM, Juul A, McElreavey K, Ottesen AM, Garn ID, Main KM, et al. Sons conceived by assisted reproduction techniques inherit deletions in the azoospermia factor (AZF) region of the Y chromosome and the DAZ gene copy number. Hum Reprod 2008; 23: 1669-1678. [DOI:10.1093/humrep/den124]
14. Ferlin A, Arredi B, Speltra E, Cazzadore C, Selice R, Garolla A, et al. Molecular and clinical characterization of Y chromosome microdeletions in infertile men: a 10-year experience in Italy. J Clin Endocrinol Metab 2007; 92: 762-770. [DOI:10.1210/jc.2006-1981]
15. Tiepolo L, Zuffardi, O. Localization of factors controlling spermatogenesis in the nonfluorescent position of the human Y chromosome long arm. Hum Genet 1976; 34: 119-134. [DOI:10.1007/BF00278879]
16. Vogt PH, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, Kiesewetter F, et al. Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet 1996; 5: 933-943. [DOI:10.1093/hmg/5.7.933]
17. Repping S, Skaletsky H, Lange J, Silber S, Van Der Veen F, Oates RD, et al . Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. Am J Hum Genet 2002; 71: 906-922. [DOI:10.1086/342928]
18. Vogt PH. Azoospermia factor (AZF) in Yq11: towards a molecular understanding of its function for human male fertility and spermatogenesis. Reprod Biomed Online 2005; 10: 81-93. [DOI:10.1016/S1472-6483(10)60807-3]
19. Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L, Brown LG, et al. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 2003; 423: 825-37. [DOI:10.1038/nature01722]
20. World Health Organization. WHO Laboratory Manual for the Examination of Human Semen and Sperm-Cervical Mucus Interaction. 3rd Ed. 1999.
21. Suganthi R, Manonayaki S, Benazir JF. Molecular analysis of Y-chromosome microdeletions in infertile men. Int J Med Sci 2009; 2: 54-60.
22. Simoni M, Bakker E, Krausz C. EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. Int J Androl 2004; 27: 240-249. [DOI:10.1111/j.1365-2605.2004.00495.x]
23. Lahn BT, Page DC. Functional coherence of the human Y chromosome. Sci 1999; 278: 675-680.
24. Kostiner DR, Turek PJ, Reijo RA: Male infertility: analysis of the markers and genes on the human Y chromosome. Hum Reprod 1998; 13: 3032-3038. [DOI:10.1093/humrep/13.11.3032]
25. Van derVenK, Montag M, PeschkaB, Leygraaf J, SchwanitzG, Haidl G, et al. Combined cytogenetic and Y chromosome microdeletion screening in males undergoing intracytoplasmic sperm injection. Mol Hum Reprod 1997; 3: 699-704. [DOI:10.1093/molehr/3.8.699]
26. Foresta C, Ferlin A, Garolla A, Moro E, Pistorello M, Barbaux S, et al. High frequency of well-defined Y-chromosome deletions in idiopathic Sertoli cell-only syndrome. Hum Reprod 1998; 13: 302-307. [DOI:10.1093/humrep/13.2.302]
27. Krausz C, Forti G, Mc Elreavey K. The Y chromosome and male fertility and infertility. Intl J Androl 2003; 26: 70-75. [DOI:10.1046/j.1365-2605.2003.00402.x]
28. Simoni M. Clinical consequences of microdeletions of the Y chromosome: the extended Münster experience. Reprod Biomed Online 2008; 16: 289-303. [DOI:10.1016/S1472-6483(10)60588-3]
29. Girardi SK, Mielnik A, Schlegel PN. Submicroscopic deletions in the Y chromosome of infertile men. Hum Reprod 1997; 12:1635-1641. [DOI:10.1093/humrep/12.8.1635]
30. Calogero AE, Garofalo MR, D'Agata R. Current status of the molecular diagnosis of Y chromosome microdeletions in the work-up of male infertility. Factors influencing the variable incidence of Y chromosome microdeletions in infertile patients. Hum Reprod 1999; 14: 272-275. [DOI:10.1093/humrep/14.2.275]
31. Krausz C, McElreavey K. Y chromosome and male infertility. Frontiers in Bioscience 1999; 4: 1-8. [DOI:10.2741/A474]
32. 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]
33. Noordam MJ, Repping S. The human Y chromosome: a masculine chromosome. Curr Opin Genet Develop 2006; 16: 225-232. [DOI:10.1016/j.gde.2006.04.018]
34. Kamp C, Hirschmann P, Voss H, Huellen K, Vogt PH. Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events. Hum Mol Genet 2000; 9: 2563-2572. [DOI:10.1093/hmg/9.17.2563]
35. 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]
36. Ferlin A, Moro E, Rossi A, Dallapiccola B, Foresta C. The human Y chromosome azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men. J Med Genet 2003; 40: 18-24. [DOI:10.1136/jmg.40.1.18]
37. Oates RD, Silber S, Brown LG, Page DC. Clinical characterization of 42 oligospermic or azoospermic men with microdeletion of the AZFc region of the Y chromosome, and of 18 children conceived via ICSI. Hum Reprod 2002; 17: 2813-2824. [DOI:10.1093/humrep/17.11.2813]
38. Hopps CV, Mielnik A, Goldstein M, Palermo GD, Rosenwaks Z. 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]
39. Kuehnert B, Gromoll J, Kostova E, Tschanter P, Luetjens CM, Simoni M, et al. Case Report: Natural transmission of an AZFc Y-chromosomal microdeletion from father to his sons. Hum Reprod 2004; 19: 886-888. [DOI:10.1093/humrep/deh186]
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