Chromosomal Polymorphisms Involved in Reproductive Failure in the Romanian Population

Mierla, D.; Stoian, V.

doi:10.2478/bjmg-2013-0003

Abstract

Cytogenetic heteromorphisms are described as variations at specific chromosomal regions with no impact on phenotype. The purpose of this study was to investigate the effects of these chromosomal polymorphisms involved in reproductive failure in the Romanian population.

One thousand eight hundred and nine infertile patients, who were referred to Life Memorial Hospital, Bucharest, Romania, between January 2008 and April 2011, were investigated in this retrospective study. The frequency of chromosomal polymorphic variations was calculated for these patients. The control group is represented by 1116 fetuses investigated by amniocentesis between January 2009 and April 2011.

In this study 122 (6.74%) infertile patients and 63 fetuses (5.65%) showed chromosomal polymorphic variations. The differences between the two groups was not statistically significant (p <0.242) but there was statistical significance for some specific chromosomal polymor- phisms [inv(9),1qh+, 9qh+, fra(17)].

Some chromosomal polymorphic variations appear to be associated with reproductive failure. The statistically significantly higher incidence of heterochromatic variations found in infertile individuals emphasizes the need to assess their role in infertility and subfertility.

References

1. de Kretser DM. Male infertility. Lancet. 1997; 349 (9054): 787-790.10.1016/S0140-6736(96)08341-9
Search in Google Scholar
2. Gersen SL, Keagle MB. The Principles of Clinical Cytogenetics. New Jersey: Humana Press Inc., 2005.10.1385/1592598331
Search in Google Scholar
3. Kamel RM. Management of the infertile couple: an evidence-based protocol. Reprod Biol Endocrinol. 2010; 8(1): 8-21.10.1186/1477-7827-8-21
Search in Google Scholar
4. Shah K, Sivapalan G, Gibbons N, Tempest H, Griffin DK. The genetic basis of infertility. Reproduction. 2003; 126(1): 13-25.10.1530/rep.0.1260013
Search in Google Scholar
5. Raziel A, Friedler S, Schachter M, Kasterstein E, Strassburger D, Ron-El R. Increased frequency of female partner chromosomal abnormalities in patients with high-order implantation failure after in vitro fertilization. Fertil Steril. 2002; 78(3): 515-519.10.1016/S0015-0282(02)03298-3
Search in Google Scholar
6. Babu A, Agarwal AK, Verma S. A new approach in recognition of heterochromatic regions of human chromosomes by means of restriction endonucleases. Am J Hum Genet. 1988; 42(1): 60-65.
Search in Google Scholar
7. Speroff L. Women’s healthcare in the 21st century. Maturitas. 1999; 32(1): 1-9.10.1016/S0378-5122(99)00008-0
Search in Google Scholar
8. Wang Y, Han W, Guan C, Wang G, Zhu X, Jiang M, et al. Cytogenetic study on couples with a history of re-productive failure in China. J Reprod Contraception. 2009; 20(4): 237-246.10.1016/S1001-7844(10)60006-5
Search in Google Scholar
9. Cortés-Gutiérrez EI, Cerda-Flores RM, Dávila- Rodríguez MI, Hernández-Herrera R, Vargas- Villarreal J, Leal-Garza CH. Chromosomal abnormalities and polymor-phisms in Mexican infertile men. Arch Androl. 2004; 50 (4):261-265.10.1080/01485010490448750
Search in Google Scholar
10. Fritz MA, Speroff L, Eds. Recurrent early pregnancy loss. Clinical Gynecologic Endocrinology and Infertility, 8th ed. Philadelphia: Lippincott Williams & Wilkins. 2010: 1191-1215.
Search in Google Scholar
11. Madon PF, Anthalye AS, Parikh FR. Polymorphic variants on chromosomes probably play a significant role in infertility. Reprod Biomed Online. 2005; 11(6): 726-732.10.1016/S1472-6483(10)61691-4
Search in Google Scholar
12. Bhasin MK. Human population cytogenetics: a review. Int J Hum Genet. 2005; 5(2): 83-152.10.1080/09723757.2005.11885918
Search in Google Scholar
13. Yuce H, Tekedereli I, Elyas H. Cytogenetic results of recurrent spontaneous miscarriages in Turkey. Med Sci Monit. 2007; 13(6): CR286- CR289.
Search in Google Scholar
14. Sahin FI, Yilmaz Z, Yuregir OO, Bulakbasi T, Ozer O, Zeyneloglu HB. Chromosome heteromorphisms: an impact on infertility. J Assist Reprod Genet. 2008; 25(5): 191-195. doi:10.1007/ s10815-008-9216-3.10.1007/s10815-008-9216-3
Search in Google Scholar
15. Daya S. Issues in the etiology of recurrent spontaneous abortion. Curr Opin Obstet Gynecol. 1994; 6(2): 153-159.10.1097/00001703-199404000-00008
Search in Google Scholar
16. Shaffer LG, Slovak M.L, Campbell. ISCN 2009. An International System for Human Cytogenetic Nomenclature, 2009.
Search in Google Scholar
17. Babu A, Verma RS. Characterization of human chromosomal constitutive heterochromatin. Can J Genet Cytol. 1986; 28(5): 631-644.10.1139/g86-093
Search in Google Scholar
18. Nakamura Y, Kitamura M, Nishimura K, Koga M, Kondoh N, Takeyama M, et al. Chromosomal variants among 1790 infertile men. Int J Urol. 2001; 8(2): 49-52.10.1046/j.1442-2042.2001.00242.x
Search in Google Scholar
19. Hong Y, Zhou W, Tao J, Wang S, Zhao1X. Do polymorphic variants of chromosomes affect the outcome of in vitro fertilization and embryo transfer treatment? Hum Reprod. 2011; 26(4): 933-940.10.1093/humrep/deq333
Search in Google Scholar
20. Caglayan AO, Ozyazgan I, Demiryilmaz F, Ozgun MT. Are heterochromatin polymorphisms associated with recurrent miscarriage? J Obstet Gynaecol Res. 2010; 36(4): 774-776.10.1111/j.1447-0756.2010.01207.x
Search in Google Scholar
21. Yakin K, Balaban B, Urman B. Is there a possible correlation between chromosomal variants and spermato-genesis? Int J Urol. 2005; 12(11): 984-989.10.1111/j.1442-2042.2005.01185.x
Search in Google Scholar
22. Goud TM, Mohammed Al Harassi S, Khalfan Al Salmani K, Mohammed Al Busaidy SM, Rajab A. Cyto-genetic studies in couples with recurrent miscarriage in the Sultanate of Oman. Reprod Biomed Online. 2009; 18(3): 424-429.10.1016/S1472-6483(10)60104-6
Search in Google Scholar
23. Khaled R, Gaber, Hala T, El-Bassyouni HT, El- Gerzawy A. Pericentric inversion of chromosome 1 and 9 in a case with recurrent miscarriage in Egypt. J Am Sci. 2010; 6(8): 154-156.
Search in Google Scholar
24. Lissitsina J, Mikelsaar R, Punab M. Cytogenetic analyses in infertile men. 2006; 52(2): 91-95.
Search in Google Scholar
25. Yun JS, Jang SK, Choi OH. Cytogenetic abnormalities in patients with reproductive dysfunction. Korean J Obstet Gynecol. 2007; 50(5):760-768.
Search in Google Scholar
26. Starke H, Seidel J, Hen W, Reichardt S, Volleth M, Stumm M, et al. Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements Eur J Hum Genet. 2002; 10(12): 790-800.
Search in Google Scholar
27. Davalos IP, Rivas F, Ramos AL, Galaviz C, Sandoval L, Rivera H. Inv (9) (p24q13) in three sterile brothers. Ann Genet. 2000; 43(1): 51-54.10.1016/S0003-3995(00)00013-7
Search in Google Scholar
28. Teo SH, Tan M, Knight L, Yeo SH, Ng I. Peri-centric inversion 9-Incidence and clinical significance. Ann Acad Med Singapore. 1995; 24(2): 302-304.
Search in Google Scholar
29. Dundar M, Caglayan AO, Saatci C, Batukan C, Basbug M, Ozkul Y. Can the classical euchromatic variants of 9q12/qh+ cause recurrent abortions? Genet Couns. 2008; 19(3): 281-286.
Search in Google Scholar
30. Caglayan AO, Ozgun MT, Demiryilmaz F, Ozyazgan I. Can heterochromatin polymorphism of chromosome 6 affect fertility? Genet Couns. 2009; 20(2): 203-206.
Search in Google Scholar
31. Minocherhomji S, Athalye AS, Madon PF, Kulkarni D, Uttamchandani SA, Parikh FR. A case-control study identifying chromosomal polymorphic variations as forms of epigenetic alterations associated with the infertility phenotype. 2009; 92(1): 88-95.
Search in Google Scholar
32. Eiben B, Leipoldt M, Rammelsberg O, Krause W, Engel W. High incidence of minor chromosomal variants in teratozoospermic males. Andrologia. 1987; 19(6): 684-687.10.1111/j.1439-0272.1987.tb01929.x3434859
Search in Google Scholar

Chromosomal Polymorphisms Involved in Reproductive Failure in the Romanian Population

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