Research of interchromosomal effect in male carriers with chromosomal heteromorphism by using FISH

Özgür Balasar, Hasan Acar
1.389 489

Öz


ABSTRACT

Objective:  The aim of this study is to investigate the existence of interchromosomal effect (ICE) on the sperm nuclei of males who have chromosomal heteromorphism.

Materials and Methods: In 9 male carriers of chromosomal heteromorphism (case group),  and 14 male individuals who did not have any chromosomal abnormalities (control group), aneuploidy of chromosome 2, 3, 12, 13, 17, 18, 21, X and Y in the sperm nuclei were investigated by using the fluorescence in situ hybridization (FISH) method.

Results:  A total of 51710 sperm nuclei  were analyzed (19273 from the case group and 32437 from the  control group). ICE was determined in seven of nine carrier cases of a chromosomal heteromorphism.

Conclusion: Our results suggest that there was an interchromosomal effect on male carriers with a chromosomal heteromorphism. These effects also show individual differences among patients. 

Key words: Aneuploidy, Chromosomal Heteromorphisms, FISH, Interchromosomal Effect, Sperm

 

ÖZET

Amaç: Bu çalışmanın hedefi kromozom heteromorfizmi olan erkeklerin sperm çekirdeklerinde interkromozomal etki varlığının araştırılmasıdır.

Araç ve Yöntem: Floresan in situ hibridizasyon (FISH) yöntemi kullanılarak kromozom heteromorfizmi taşıyıcısı olan 9 erkekli olgu grubuyla herhangi kromozom düzensizliği bulunmayan 14 erkekli kontrol grubunda sperm çekirdeklerindeki 2, 3, 12, 13, 17, 18, 21, X ve Y anöploidileri araştırıldı.

Bulgular: Toplam 51710 sperm çekirdeği (olgu grubundan 19273, kontrol grubundan 32437) analiz edildi. Kromozom heteromorfizmi olan 9 taşıyıcının 7’sinde interkromozomal etkinin varlığı saptandı.

Sonuç:  Elde ettiğimiz sonuçlar, kromozom heteromorfizmi olan erkek taşıyıcılarda interkromozomal etkinin bulunduğunu gösterdi. Bu etki aynı zamanda hastadan hastaya bireysel farklılıklar da göstermektedir.


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Referanslar


Kowalczyk M, Srebniak M, TomaszewskaA.Chromosomeabnormalitieswithoutphenotypicconsequences. J AppGenet2007;48:157-166.

Endow SA, Glover DM. Dynamics of Cell Division. 2nd ed. Oxford: Oxford University Press, 2002. pp 203-235.

Nielsen J, Wohlert M. Chromosome abnormalities found among 34910 newborn children: results from 13-years incidence study in Arthus, Denmark. Hum Genet 1995;87:81-83.

Fryns J, Kleczkowska A, Londers L, van den Berqhe H. Unusual chromosome 9 polymorphism and reproductive failure. Ann Genet 1985;28:49-51.

Di Gennaro G, Mascia A, Grammaldo L. Focal cortical dysplasia and pericentric inversion of chromosome 9; a case report. Journal of Neurological Sciences 2004;21:143-146.

Madon PF, Athalye AS, Parikh FR. Polymorphic variants on chromosomes probably play a significant role in infertility. Reprod Biomed Online 2005;11:726-732.

Lejeune J. Autosomal disorders. Pediatrics 1963;32:326-337.

Douet-Guilbert N, Bris MJ, Amice V, Marchetti C, Delobel B, Amice J, et al. Interchromosomal effect in sperm of males with translocations: report of 6 cases and review of the literature. Int J Androl 2005;28:372–379.

Machev N, Gosset P, Warter S, Treger M, Schillinger M, Viville S. Fluorescence in situ hybridization sperm analysis of six translocation carriers provides evidence of an interchromosomal effect. Fertil Steril 2005;84:365-373.

Blanco J, Egozcue J, Vidal F. Interchromosomal effects for chromosome 21 in carriers of structural chromosome reorganizations determined by fluorescence in situ hybridization on sperm nuclei. Hum Genet 2000;106:500-505.

Vegetti W, Van Assche E, Frias A, Verheyen G, Bianchi MM, Bonduelle M, et al. Correlation between semen parameters and sperm aneuploidy rates investigated by fluorescence in situ hybridization in infertile men. Hum Reprod 2000;15:351-365.

Anton E, Blanco J, Egozcue J, Vidal F. Sperm FISH studies in seven male carriers of Robertsonian translocation t(13;14)(q10;q10). Hum Reprod 2004;19:1345-351.

Vozdova M, Oracova E, Horinova V, Rubes J. Sperm fluorescence in situ hybridization study of meiotic segregation and an interchromosomal effect in carriers of t(11;18). Hum Reprod 2008;23:581-588.

Kekesi A, Erdei E, Török M, Dravucz S, Toth A. Segregation of chromosomes in spermatozoa of four Hungarian translocation carriers. Fertil Steril 2007;88:5-11.

Estop AM, Cieply KM, Munne S, Surti U, Wakim A, Feingold E. Is there an interchromosomal effect in reciprocal translocation carriers? Sperm FISH studies. Hum Genet 2000;106:517-524.

Pellestor F, Imbert I, Andreo B, Lefort G. Study of the occurrence of interchromosomal effect in spermatozoa of chromosomal rearrangement carriers by fluorescence in-situ hybridization and primed in-situ labelling techniques. Hum Reprod 2001;16:1155-1164.

Rives N, Saint Clair A, Mazurier S, Sibert L, Simeon N, Joly G, et al. Relationship between clinical phenotype, semen parameters and aneuploidy frequency in sperm nuclei of 50 infertile males. Hum Genet 1999;105:266-272.

Colls P, Blanco J, Martinez-Pasarell O, Vidal F, Egozcue J, Marquez C, et al. Chromosome segregation in a man heterozygous for a pericentric inversion, inv(9)(p11q13) analyzed by using sperm karyotyping and two-color fluorescence in situ hybridization on sperm nuclei. Hum Genet 1997;99:761-765.

Claussen U, Michel S, Mühlig P, Westermann M, Grummt UW, Kromeyer-Hauschild K, et al. Demystifying chromosome preparation and the implications for the concept of chromosome condensation during mitosis. Cytogenet Genome Res 2002;98:136-146.

Shaffer LG, McGovan-Jordan J, Schmid M(eds). ISCN (2013): An International System for Human Cytogenetic Nomenclature. Basel: Karger; 2013.

Amiel A, Sardos-Albertini F, Feijgin MD, Sharony R,Diukman R, Bartoov B. Interchromosomal effect leading to an increase in aneuploidy in sperm nuclei in a man heterozygous for pericentric inversion (inv9) and C-heterochromatin. J Hum Genet 2001;46:245–250.

Grell RF. Distributive pairing in man? Ann Genet 1971;14:165-171.

Ford CE, Evans EP. Robertsonian translocation in mice: segregational irregularities in male heterozygotes and zygotic imbalance. Chrom Today 1973;4:387-397.

Göndör A, Ohlsson R.Chromosome crosstalk in three dimensions. Nature 2009;10:212-217.

Lee JT, Jaenisch R. Long-range cis effects of ectopic X-inactivation centres on a mouse autosome. Nature 1997;20:275-279.

McKee BD. Homologous pairing and chromosome dynamics in meiosis and mitosis. Biochim Biophys Acta 2004;15:165-180.

Codina-Pascual M, Navarro J, Oliver-Bonet M, Kraus J, Speicher MR, Arango O, et al. Behaviour of human heterochromatic regions during the synapsis of homologous chromosomes. Hum Reprod 2006;21:1490-1497.

Stahl A, Luciani JM, Devictor M, Capodano AM, Hartung M. Heterochromatin and nucleolar organizers during first meiotic prophase in quail oocytes. Exp Cell Res 1975;15:365-371.

Starke H, Seidel J, Henn 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;10:790-800.

Anton E, Vidal F, Egozcue J, Blanco J. Genetic reproductive risk in inversion carriers. Fertil Steril 2006;85:661-666.

Morel F, Laudier B, Guerif F, Couet ML, Royere D, Roux C, et al. Meiotic segregation analysis in spermatozoa of pericentric inversion carriers using fluorescence in-situ hybridization. Hum Reprod 2007;22:136-141.




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