سه شنبه 4 اردیبهشت 1403
[Archive]
دوره 16، شماره 9 - ( 6-1397 )
جلد 16 شماره 9 صفحات 608-601 |
برگشت به فهرست نسخه ها
Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
García-Vielma C, Imelda Dávila-Rodríguez M, Cortés-Gutiérrez E I. Chromosome segregation and chromatin integrity in spermatozoa from a t(2;8)(p24;p21)mat carrier: A case-report. IJRM 2018; 16 (9) :601-608
URL: http://ijrm.ir/article-1-1245-fa.html
URL: http://ijrm.ir/article-1-1245-fa.html
Chromosome segregation and chromatin integrity in spermatozoa from a t(2;8)(p24;p21)mat carrier: A case-report. International Journal of Reproductive BioMedicine. 1397; 16 (9) :601-608
چکیده: (2357 مشاهده)
Background: Chromosome rearrangements can produce genomic imbalance in gametes which causes a drastic decrease in fertility. Several studies have described the relationship between high levels of DNA damage and chromosomal alterations in the spermatozoa of infertile or subfertile males. However, the nature of this relation is poorly understood. In this study, the meiotic segregation pattern and chromatin integrity were analyzed in the ejaculated spermatozoa of a 46, XY, t(2;8)(p24;p21)mat carrier with normozoospermia and a lack of conception.
Case: A 39-year-old infertile man with a 46, XY, t(2;8)(p24;p21)mat inherited from his mother, was studied. The wife of the proband (30 yrs old) had a normal karyotype and no reproductive problems. The meiotic segregation pattern and aneuploidy of chromosome-8 and chromosome-2 were analyzed by FISH. Sperm DNA damage was evaluated by the Sperm Dispersion Chromatin, alkaline comet assay and DNA breaking detection. Five healthy male donors were included as controls. The frequency of genetically unbalanced spermatozoa was 61.6%. Analysis of the aneuploidy of chromosome-8 and chromosome-Y revealed approximately three and 24 fold increased level respectively in comparison with that of the control group.
Conclusion: We suggest that the accumulation of genetically unbalanced spermatozoa, and increased sperm aneuploidy level is related to male infertility. Interestingly, the case described here has a high level of sperm chromosomal imbalance appears to be linked to sperm DNA fragmentation status. This information could be useful in assisted reproductive techniques.
Case: A 39-year-old infertile man with a 46, XY, t(2;8)(p24;p21)mat inherited from his mother, was studied. The wife of the proband (30 yrs old) had a normal karyotype and no reproductive problems. The meiotic segregation pattern and aneuploidy of chromosome-8 and chromosome-2 were analyzed by FISH. Sperm DNA damage was evaluated by the Sperm Dispersion Chromatin, alkaline comet assay and DNA breaking detection. Five healthy male donors were included as controls. The frequency of genetically unbalanced spermatozoa was 61.6%. Analysis of the aneuploidy of chromosome-8 and chromosome-Y revealed approximately three and 24 fold increased level respectively in comparison with that of the control group.
Conclusion: We suggest that the accumulation of genetically unbalanced spermatozoa, and increased sperm aneuploidy level is related to male infertility. Interestingly, the case described here has a high level of sperm chromosomal imbalance appears to be linked to sperm DNA fragmentation status. This information could be useful in assisted reproductive techniques.
نوع مطالعه: Case Report |
فهرست منابع
1. Ceylan GG, Ceylan C, Elyas H. Genetic anomalies in patients with severe oligozoospermia and azoospermia in eastern Turkey: a prospective study. Gen Mol Res 2009; 8: 915-922. [DOI:10.4238/vol8-3gmr616]
2. De la Fuente-Cortés BE, Cerda-Flores RM, Dávila-Rodríguez MI, García-Vielma C, De la Rosa Alvarado RM, Cortés-Gutiérrez EI. Chromosomal abnormalities and polymorphic variants in couples with repeated miscarriage in mexico. Reprod Biomed Online 2009; 18: 543-548. [DOI:10.1016/S1472-6483(10)60132-0]
3. Li TC, Makris M, Tomsu M, Tuckerman E, Laird S. Recurrent miscarriage: aetiology, management and prognosis. Hum Reprod Update 2002; 8: 463-481. [DOI:10.1093/humupd/8.5.463]
4. Pastuszek E, Kiewisz J, Kulwikowska PM, Lukaszuk M, Lukaszuk K. Sperm parameters and DNA fragmentation of balanced chromosomal rearrangements carriers. Folia Histochem Cytobio 2015; 53: 314-321. [DOI:10.5603/fhc.a2015.0032]
5. Cifuentes P, Navarro J, Blanco J, Vidal F, Míguez L, Egozcue J, et al. Cytogenetic analysis of sperm chromosomes and sperm nuclei in a male heterozygous for a reciprocal translocation t(5;7)(q21;q32) by in situ hybridization. Eur J Hum Genet 1999; 7: 231-238. [DOI:10.1038/sj.ejhg.5200274]
6. Oliver-Bonet M, Navarro J, Codina-Pascual M, Carrera M, Egozcue J, Benet J. Meiotic segregation analysis in a t(4;8) carrier: comparison of FISH methods on sperm chromosome metaphases and interphase sperm nuclei. Eur J Hum Genet 2001; 9: 395-403. [DOI:10.1038/sj.ejhg.5200654]
7. Cora T, Acar H, Kaynak M. Molecular Cytogenetic detection of meiotic segregation patterns in sperm nuclei of carriers of 46,XY,t(15;17)(q21;q25). J Androl 2002; 23:793-798.
8. World Health Organization. WHO laboratory manual for the Examination and processing of human semen. 5th Ed. WHO press, Geneva, Switzerland, World Health Organization; 2010.
9. Shaffer LG, McGowan-Jordan J, Schmid M. ISCN 2013: An International System for Human Cytogenetic Nomenclature. Basel, Switzerland, Ed. Karger; 2013.
10. Fernández JL, Muriel L, Rivero MT, Goyanes V, Vazquez R, Alvarez JG. The sperm chromatin dispersion test: a simple method for the determination of sperm DNA fragmentation. J Androl 2003; 24: 59-66.
11. Singh NP, McCoy MT, Tice RR, Schneider EL. A simple technique for quantification of low levels of DNA damage in individual cells. Exp Cell Res 1988; 175: 184-191. [DOI:10.1016/0014-4827(88)90265-0]
12. Fernández JL, Vázquez-Gundín F, Delgado A, Goyanes VJ, Ramiro-Díaz J, de la Torre J, et al. DNA breakage detection-FISH (DBD-FISH) in human spermatozoa: technical variants evidence different structural features. Mutat Res 2000; 453: 77-82. [DOI:10.1016/S0027-5107(00)00079-8]
13. Anton E, Vidal F, Blanco J. Role of sperm FISH studies in the genetic reproductive advice of structural reorganization carriers. Hum Reprod 2007; 22: 2088-2092. [DOI:10.1093/humrep/dem152]
14. Kirkpatrick G, Ferguson KA, Gao H, Tang S, Chow V, Yuen BH, et al. A comparison of sperm aneuploidy rates between infertile men with normal and abnormal karyotypes. Hum Reprod 2008; 23: 1679-1683. [DOI:10.1093/humrep/den126]
15. Tempest HG, Griffin DK. The relationship between male infertility and increased levels of sperm disomy. Cytogenet Genome Res 2004; 107: 83-94. [DOI:10.1159/000079575]
16. Tang SS, Gao H, Zhao Y, Ma S. Aneuploidy and DNA fragmentation in morphologically abnormal sperm. Int J Androl 2010; 33: 163-179. [DOI:10.1111/j.1365-2605.2009.00982.x]
17. Brugnon F, Janny L, Communal Y, Darcha C, Szczepaniak C, Pellestor F et al. Apoptosis and meiotic segregation in ejaculated sperm from Robertsonian translocation carrier patients. Hum Reprod 2010; 25: 1631-1642. [DOI:10.1093/humrep/deq113]
18. Perrin A, Nguyen MH, Bujan L, Vialard F, Amice V, Guéganic N et al. DNA fragmentation is higher in spermatozoa with chromosomally unbalanced content in men with a structural chromosomal rearrangement. Andrology 2013; 1: 632-638. [DOI:10.1111/j.2047-2927.2013.00100.x]
19. Cortés-Gutiérrez EI, Dávila-Rodríguez MI, Fernández JL, López-Fernández C, Aragón-Tovar AR, Urbina-Bernal LC, et al. DNA damage in spermatozoa from infertile men with varicocele evaluated by sperm chromatin dispersion and DBD-FISH. Arch Gynecol Obstet 2016; 293: 189-196. [DOI:10.1007/s00404-015-3822-y]
20. Schulte RT, Ohl DA, Sigman M, Smith GD. Sperm DNA damage in male infertility: etiologies, assays, and outcomes. J Assist Reprod Genet 2010; 27: 3-12 [DOI:10.1007/s10815-009-9359-x]
| بازنشر اطلاعات | |
 |
این مقاله تحت شرایط Creative Commons Attribution-NonCommercial 4.0 International License قابل بازنشر است. |
