Volume 12, Issue 6 (8-2014)                   IJRM 2014, 12(6): 383-0 | Back to browse issues page

XML Persian Abstract Print

Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
Elfateh F, Rulin D, Xin Y, Linlin L, Haibo Z, Liu R. Prevalence and patterns of Y chromosome microdeletion in infertile men with azoospermia and oligzoospermia in Northeast China. IJRM 2014; 12 (6) :383-0
URL: http://ijrm.ir/article-1-556-en.html
Prevalence and patterns of Y chromosome microdeletion in infertile men with azoospermia and oligzoospermia in Northeast China
Fadlalla Elfateh1 , Dai Rulin1 , Yun Xin1 , Li Linlin1 , Zhu Haibo1 , Rui-Zhi Liu * 2
1- Center for Reproductive Medicine, First Bethune Hospital, Jilin University, Changchun, China
2- Center for Reproductive Medicine, First Bethune Hospital, Jilin University, Changchun, China , lrz420@126.com
Abstract:   (2500 Views)
Background: In some cases infertile men showed small deletions of specific genes in the Y chromosome. It had been confirmed, these deleted genes are greatly associated with spermatogenic failure. However, the frequency and the patterns of such microdeletions among infertile men are not clearly clarified.
Objective: We sought to determine the frequency and the patterns of Y chromosome microdeletions in azoospermic and oligozoospermic infertile men in Northeast China, and try to optimize the selection of sequence tagged sites (STSs) of AZF microdeletions in multiplex polymerase chain reaction (PCR).
Materials and Methods: 720 azoospermic and 330 oligozoospermic infertile men, from Northeast China were included in this retrospective study during May 2008 to November 2012. Semen analysis was performed according to the World Health Organization guidelines. Y chromosome microdeletions were detected by polymerase chain reaction assays. G-banding method was used for chromosome Karyotype analysis. Chi-square tests were used to compare patterns of Y chromosome microdeletions in azoospermic and oligozoospermic patients.
Results: Of 1050 infertile men, 12.95% cases had shown Y chromosome microdeletions, and 19.43% of cases showed abnormal chromosomal karyotype. Deletions in AZFc region was the most frequent 75.00%, followed by deletions in AZFb region 13.33%, AZFbc region 09.62%, and AZFa region 2.22%. All oligozoospermic patients showed presence of sY84, sY86, sY127, and sY134. Deletion of sY127 (p=0.0101) and sY157 (p=0.0043) showed significant difference between azoospermic group and oligozoospermic group.
Conclusion: Deletions of sY127 may relate to azoospermia while sY84, sY86, sY127 can be ignored in AZF screening for oligozoospermic patients.
Keywords: Azoospermia, Oligozoospermia, Y chromosome microdeletions, PCR.
Full-Text [PDF 136 kb]   (499 Downloads) |   |   Full-Text (HTML)  (462 Views)  
Type of Study: Original Article |
References
1. De Kretser DM, Baker HWG. Infertility in men: recent advances and continuing controversies. J Clin Endocrinol Metab 1999; 84: 3443-3450. [DOI:10.1210/jc.84.10.3443]
2. Ferlin A, Arredi B, Foresta C. Genetic causes of male infertility. Reprod Toxicol 2006; 22: 133-141. [DOI:10.1016/j.reprotox.2006.04.016]
3. Pina-Neto JM, Carrara RC, Bisinella R, Mazzucatto LF, Martins MD, Sartoratto E, et al. Somatic cytogenetic and azoospermia factor gene microdeletion studies in infertile men. Braz J Med Biol Res 2006; 39: 555-561. [DOI:10.1590/S0100-879X2006000400017]
4. 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. [DOI:10.1007/BF00278879]
5. 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]
6. 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]
7. Soleimanian S, Kalantar SM, Sheikhha MH, Zaimy MA, Rasti A, Fazli H. Association between Y-chromosome AZFc region micro-deletions with recurrent miscarriage. Iran J Reprod Med 2013; 11: 431-434.
8. World Health Organization (WHO). WHO Laboratory Manual for the Examination of Human Semen and Semen-Cervical Mucus Interaction. 4th Ed. United Kingdom, Cambridge University Press; 1999.
9. 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]
10. Shaffer LG, Slovak ML, Campbell LJ. "ISCN 2009: an international system for human cytogenetic nomenclature (2009)." Switzerland, Karger; 2009.
11. Kim MJ, Choi HW, Park SY, Song IO, Seo JT, Lee HS. Molecular and cytogenetic studies of 101 infertile men with microdeletions of Y chromosome in 1,306 infertile Korean men. J Assist Reprod Genet 2012: 29: 539-546. [DOI:10.1007/s10815-012-9748-4]
12. Ristanovic M, Bunjevacki V, Tulic C, Novakovic I, Perovic V, Lukovic LJ, et al. Prevalence of Y chromosome microdeletions in infertile men with severe oligozoospermia in Serbia. Genet Couns 2007; 18: 337-342.
13. Mirfakhraie R, Mirzajani F, Kalantar SM, Montazeri M, Salsabili N, Pourmand GR, et al. High prevalence of AZFb microdeletion in Iranian patients with idiopathic non-obstructive azoospermia. Indian J Med Res 2010; 132: 265-270.
14. Fu J, Li L, Lu G. Relationship between microdeletion on Y chromosome and patients with idiopathic azoospermia and severe oligozoospermia in the Chinese. China Med J (Engl) 2002; 115: 72-75.
15. Li HG, Ding XF, Zhao JX, Zuo MD, Xiong CL. Y chromosome microdeletions of 664 Chinese men with azoospermia or severe oligozoospermia. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2008; 25: 252-255.
16. Liu YF, Ou JP, Zhou CQ, Wang Q, Wang ZL. Screening for the microdeletions of azoospermia factor on the Y chromosome in male infertile patients from Guangzhou. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2007; 24: 564-566.
17. Zhu YJ, Liu SY, Wang H, Wei P, Ding XP. The prevalence of azoospermia factor microdeletion on the Y chromosome of Chinese infertile men detected by multi-analyte suspension array technology. Asian Androl 2008; 10: 873-881. [DOI:10.1111/j.1745-7262.2008.00436.x]
18. Song NH, Wu HF, Zhang W, Hua LX, Zhou ZM, Feng NH, et al. Detection of Y chromosome microdeletions in patients with severe oligozoospermia and azoospermia. Zhonghua Yi Xue Za Zhi 2006; 86: 1376-1380.
19. Zhou H, Zhu JW, Li HG, Tang YP. Genetic defect in Chinese azoospermic patients and their relationship with reproductive hormone. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2009; 26: 427-430.
20. Wu O, Wang H, Liu YL, Xu Y, Wang P, Shi HJ, et al. Sequence tagged sites of AZFc microdeletion in Chinese Han population. Zhonghua Nan Ke Xue 2011; 17: 391-395.
21. Shi YC, Cui YX, Wei L, Zhou YC, Shao Y, Xia XY, et al. AZF microdeletions on the Y chromosome in infertile Chinese men: a five-year retrospective analysis. Zhonghua Nan Ke Xue 2010; 16: 314-319.
22. Hopps CV, Mielnik A, Goldstein M, Palermo GD, Rosenwakes Z, Schlegel PN. Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb and AZFc regions. Hum Repord 2003; 18: 1660-1665. [DOI:10.1093/humrep/deg348]
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