GENETIC CAUSES OF MALE INFERTILITY
Plaseska-Karanfilska D1,*, Noveski P1, Plaseski T2, Maleva I1, Madjunkova S1, Moneva Z1
*Corresponding Author: Professor Dr. Dijana Plaseska-Karanfilska, Research Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov,” Macedonian Academy of Sciences and Arts, Krste Misirkov 2, Skopje 1000, Republic of Macedonia; Tel: +389(0)2 3235410; Fax: +389 (0)2 3115434; E-mail: dijana@manu.edu.mk
page: 31

REFERENCES

1. Ferlin A, Arredi B, Foresta C. Genetic causes of male infertility. Reprod Toxicol. 2006; 22(2): 133-141. 2. Gekas J, Thepot F, Turleau C, et al. Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men. Hum Reprod. 2001; 16(1): 82-90. 3. Foresta C, Ferlin A, Moro E, Scandellari C. Y chromosome. Lancet. 2000; 355(9199): 234-235. 4. Krausz C, Forti G, McElreavey K. The Y chromosome and male fertility and infertility. Int J Androl. 2003; 26(2): 70-75. 5. Simoni M, Kamischke A, Nieschlag E. Current status of the molecular diagnosis of Y-chromosomal microdeletions in the work-up of male infertility. Initiative for international quality control. Hum Reprod. 1998; 13(7): 1764-1768. 6. Plaseski T, Dimitrovski C, Kocevska B, Efremov GD, Plaseska-Karanfilska D. The prevalence of Y chromosome microdeletions among infertile males from the Republic of Macedonia. Balkan J Med Genet. 2003; 6(1&2): 39-44. 7. Plaseski T, Novevski P, Kocevska B, Dimitrovski C, Efremov GD, Plaseska-Karanfilska D. AZF deletions in infertile men from the Republic of Macedonia. Prilozi. 2006; 27(1): 5-16. 8. Plaseski T, Noveski P, Trivodalieva S, Efremov GD, Plaseska-Karanfilska D. Quantitative fluorescent- PCR detection of sex chromosome aneuploidies and AZF deletions/duplications. Genet Test. 2008; 12(4): 595-605. 9. Vogt PH. AZF deletions and Y chromosomal haplogroups: history and update based on sequence. Hum Reprod Update. 2005; 11(4): 319-336. 10. Repping S, Skaletsky H, Brown L, et al. Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection. Nat Genet. 2003; 35(3): 247-251. 11. Repping S, van Daalen SK, Korver CM, et al. A family of human Y chromosomes has dispersed through-out northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region. Genomics. 2004; 83(6): 1046-1052. 12. Lin YW, Hsu LC, Kuo PL, et al. Partial duplication at AZFc on the Y chromosome is a risk factor for impaired spermatogenesis in Han Chinese in Taiwan. Hum Mutat. 2007; 28(5): 486-494. 13. Plaseska-Karanfilska D, Noveski P, Plaseski T. PNaTP, detection of the most common genetic causes of male infertility by quantitative fluorescent (QF)-PCR analysis. In: Plaseska-Karanfilska, Ed. Genetics of Human Diseases. Rijeka: Croatia. 2011: 203-222. 14. Yang Y, Ma M, Li L, et al. Y chromosome haplogroups may confer susceptibility to partial AZFc deletions and deletion effect on spermatogenesis impairment. Hum Reprod. 2008; 23(9): 2167-2172. 15. Noveski P, Trivodalieva S, Efremov GD, Plaseska- Karanfilska D. Y-chromosome single nucleotide polymorphisms typing by SNaPshot minisequencing. Balkan J Med Genet. 2010; 13(1): 9-16. 16. Krausz C, Giachini C. Genetic risk factors in male infertility. Arch Androl. 2007; 53(3): 125-133. 17. Plaseski T, Noveski P, Kocevska B, Dimitrovski C, Efremov GD, Plaseska-Karanfilska D. CAG repeat polymorphism of the mitrochondrial DNA polymerase gamma gene in Macedonian infertile and fertile men. Balkan J Med Genet. 2007; 10(2): 37-41. 18. Plaseski T, Noveski P, Kocevska B, Dimitrovski C, Efremov GD, Plaseska-Karanfilska D. CAG repeat number in androgen receptor gene and male infertility. Balkan J Med Genet. 2007; 10(1): 19-24. 19. Plaseski T, Noveski P, Popeska Z, Efremov GD, Plaseska-Karanfilska D. Association study of single nucleotide polymorphisms in FASLG, JMJDIA, LOC203413, TEX15, BRDT, OR2W3, INSR and TAS2R38 genes with male infertility. J Androl. 2011; 33(4): 675-683. 20. Tuttelmann F, Simoni M, Kliesch S, et al. Copy number variants in patients with severe oligozoospermia and Sertoli-cell-only syndrome. PLoS One. 2011; 6(4): e19426.



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