• Something wrong with this record ?

Balanced chromosomal translocations in men: relationships among semen parameters, chromatin integrity, sperm meiotic segregation and aneuploidy

Miluse Vozdova, Eva Oracova, Katerina Kasikova, Petra Prinosilova, Roman Rybar, Vera Horinova, Renata Gaillyova, Jiri Rubes

. 2013 ; 30 (3) : 391-405.

Language English Country Netherlands

Document type Journal Article, Research Support, Non-U.S. Gov't

Persistent link   https://www.medvik.cz/link/bmc13031710

Grant support
NS9842 MZ0 CEP Register

Digital library NLK
Full text - Article
Source

E-resources Online Full text

NLK Free Medical Journals from 2008 to 1 year ago
PubMed Central from 1997 to 1 year ago
Europe PubMed Central from 1997 to 1 year ago
ProQuest Central from 1999-01-01 to 1 year ago
Medline Complete (EBSCOhost) from 2011-01-01 to 1 year ago
Health & Medicine (ProQuest) from 1999-01-01 to 1 year ago
Public Health Database (ProQuest) from 1999-01-01 to 1 year ago

Links

PubMed 23318982
DOI 10.1007/s10815-012-9921-9
Knihovny.cz E-resources

PURPOSE: To analyse relationships between semen parameters, sperm chromatin integrity and frequencies of chromosomally unbalanced, disomic and diploid sperm in 13 Robertsonian and 37 reciprocal translocation carriers and to compare the results with data from 10 control donors. METHODS: Conventional semen analysis, Sperm Chromatin Structure Assay and FISH with probes for chromosomes involved in the individual translocations and for chromosomes X, Y, 7, 8, 13, 18 and 21. RESULTS: Normal semen parameters were found in 30.8 % of Robertsonian and 59.5 % of reciprocal translocation carriers. The rates of unbalanced sperm were 12.0 % in Robertsonian and 55.1 % in reciprocal translocation carriers with no difference between normospermic patients and those showing altered semen parameters. Significantly increased frequencies of spermatozoa showing defects in chromatin integrity and condensation, aneuploidy for chromosomes not involved in a translocation and diploidy were detected in translocation carriers with abnormal semen parameters. Normospermic reciprocal translocation carriers showed an increase in chromosome 13 disomy compared to the control group. There was no relationship between gametic and somatic aneuploidy in 12 translocation carriers studied by FISH on sperm and lymphocytes. The frequency of motile sperm was negatively correlated with the frequency of sperm showing disomy, diploidy and defective chromatin condensation. CONCLUSIONS: Abnormal semen parameters can serve as indicators of an additional risk of forming spermatozoa with defective chromatin and aneuploidy in translocation carriers.

References provided by Crossref.org

000      
00000naa a2200000 a 4500
001      
bmc13031710
003      
CZ-PrNML
005      
20141126145013.0
007      
ta
008      
131002s2013 ne f 000 0|eng||
009      
AR
024    7_
$a 10.1007/s10815-012-9921-9 $2 doi
035    __
$a (PubMed)23318982
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a ne
100    1_
$a Vozdova, Miluse $u Department of Genetics and Reproduction, Veterinary Research Institute, Brno, Czech Republic. vozdova@vri.cz
245    10
$a Balanced chromosomal translocations in men: relationships among semen parameters, chromatin integrity, sperm meiotic segregation and aneuploidy / $c Miluse Vozdova, Eva Oracova, Katerina Kasikova, Petra Prinosilova, Roman Rybar, Vera Horinova, Renata Gaillyova, Jiri Rubes
520    9_
$a PURPOSE: To analyse relationships between semen parameters, sperm chromatin integrity and frequencies of chromosomally unbalanced, disomic and diploid sperm in 13 Robertsonian and 37 reciprocal translocation carriers and to compare the results with data from 10 control donors. METHODS: Conventional semen analysis, Sperm Chromatin Structure Assay and FISH with probes for chromosomes involved in the individual translocations and for chromosomes X, Y, 7, 8, 13, 18 and 21. RESULTS: Normal semen parameters were found in 30.8 % of Robertsonian and 59.5 % of reciprocal translocation carriers. The rates of unbalanced sperm were 12.0 % in Robertsonian and 55.1 % in reciprocal translocation carriers with no difference between normospermic patients and those showing altered semen parameters. Significantly increased frequencies of spermatozoa showing defects in chromatin integrity and condensation, aneuploidy for chromosomes not involved in a translocation and diploidy were detected in translocation carriers with abnormal semen parameters. Normospermic reciprocal translocation carriers showed an increase in chromosome 13 disomy compared to the control group. There was no relationship between gametic and somatic aneuploidy in 12 translocation carriers studied by FISH on sperm and lymphocytes. The frequency of motile sperm was negatively correlated with the frequency of sperm showing disomy, diploidy and defective chromatin condensation. CONCLUSIONS: Abnormal semen parameters can serve as indicators of an additional risk of forming spermatozoa with defective chromatin and aneuploidy in translocation carriers.
650    _2
$a dospělí $7 D000328
650    _2
$a aneuploidie $7 D000782
650    _2
$a chromatin $x genetika $7 D002843
650    _2
$a segregace chromozomů $7 D020090
650    _2
$a lidské chromozomy, pár 13 $7 D002882
650    _2
$a lidské chromozomy, pár 18 $7 D002887
650    _2
$a lidské chromozomy X $7 D041321
650    _2
$a lidský chromozom Y $7 D041322
650    _2
$a heterozygot $7 D006579
650    _2
$a lidé $7 D006801
650    _2
$a hybridizace in situ fluorescenční $7 D017404
650    _2
$a mužská infertilita $x genetika $7 D007248
650    _2
$a karyotypizace $7 D007621
650    _2
$a mužské pohlaví $7 D008297
650    _2
$a lidé středního věku $7 D008875
650    _2
$a sperma $x cytologie $7 D012661
650    _2
$a analýza spermatu $7 D055101
650    _2
$a spermie $x cytologie $7 D013094
650    _2
$a translokace genetická $x genetika $7 D014178
655    _2
$a časopisecké články $7 D016428
655    _2
$a práce podpořená grantem $7 D013485
700    1_
$a Oracova, Eva $u Department of Genetics and Reproduction, Veterinary Research Institute, Brno, Czech Republic; Sanatorium Repromeda, Brno, Czech Republic
700    1_
$a Kasikova, Katerina $u Department of Medical Genetics, University Hospital Brno, Brno, Czech Republic; Department of Preventive Medicine, Faculty of Medicine, Masaryk University, Brno, Czech Republic
700    1_
$a Prinosilova, Petra $u Department of Genetics and Reproduction, Veterinary Research Institute, Brno, Czech Republic
700    1_
$a Rybar, Roman $u Department of Genetics and Reproduction, Veterinary Research Institute, Brno, Czech Republic
700    1_
$a Horinova, Vera $u Sanatorium Helios SIVF, Brno, Czech Republic
700    1_
$a Gaillyova, Renata $u Department of Medical Genetics, University Hospital Brno, Brno, Czech Republic; Biological Institute, Faculty of Medicine, Masaryk University, Brno, Czech Republic
700    1_
$a Rubes, Jiri $u Department of Genetics and Reproduction, Veterinary Research Institute, Brno, Czech Republic; Sanatorium Repromeda, Brno, Czech Republic
773    0_
$w MED00002533 $t Journal of assisted reproduction and genetics $x 1573-7330 $g Roč. 30, č. 3 (2013), s. 391-405
856    41
$u https://pubmed.ncbi.nlm.nih.gov/23318982 $y Pubmed
910    __
$a ABA008 $b sig $c sign $y a $z 0
990    __
$a 20131002 $b ABA008
991    __
$a 20141126145047 $b ABA008
999    __
$a ok $b bmc $g 995797 $s 830155
BAS    __
$a 3
BAS    __
$a PreBMC
BMC    __
$a 2013 $b 30 $c 3 $d 391-405 $i 1573-7330 $m Journal of assisted reproduction and genetics $n J Assist Reprod Genet $x MED00002533
GRA    __
$a NS9842 $p MZ0
LZP    __
$a Pubmed-20131002

Find record

Citation metrics

Archiving options