DNA fragmentation and meiotic segregation in sperm of carriers of a chromosomal structural abnormality

Objective To determine the meiotic segregation and DNA fragmentation in spermatozoa of carriers of a chromosomal structural abnormality. Design Case series. Setting University hospital. Patient(s) Thirty-seven male carriers of a chromosomal structural abnormality (21 with a balanced reciprocal trans...

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Veröffentlicht in:Fertility and sterility 2009-08, Vol.92 (2), p.583-589
Hauptverfasser: Perrin, Aurore, M.Sc, Caer, Emilie, M.D, Oliver-Bonet, Maria, M.D, Navarro, Joaquima, M.D, Benet, Jordi, M.D, Amice, Véronique, M.D, De Braekeleer, Marc, M.D., Ph.D, Morel, Frédéric, Ph.D
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container_issue 2
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container_title Fertility and sterility
container_volume 92
creator Perrin, Aurore, M.Sc
Caer, Emilie, M.D
Oliver-Bonet, Maria, M.D
Navarro, Joaquima, M.D
Benet, Jordi, M.D
Amice, Véronique, M.D
De Braekeleer, Marc, M.D., Ph.D
Morel, Frédéric, Ph.D
description Objective To determine the meiotic segregation and DNA fragmentation in spermatozoa of carriers of a chromosomal structural abnormality. Design Case series. Setting University hospital. Patient(s) Thirty-seven male carriers of a chromosomal structural abnormality (21 with a balanced reciprocal translocation, 7 with a robertsonian translocation, 9 with a pericentric inversion). Intervention(s) Meiotic segregation was analyzed by the human sperm–hamster oocyte fusion technique or by fluorescent in situ hybridization, and DNA fragmentation was detected by terminal deoxynucleotidyl transferase–mediated dUTP nick-end labeling assay. Main Outcome Measure(s) Relationships between abnormal sperm parameters, DNA fragmentation, and meiotic mechanisms. Result(s) The average rates of chromosomally unbalanced spermatozoa were 55.22%, 14.09%, and 18.43% for reciprocal translocation, robertsonian translocation, and pericentric inversion carriers, respectively. The rates of DNA fragmentation were significantly higher in the whole group of carriers of a chromosomal structural abnormality and in each specific group than in the control group. No correlations between sperm DNA fragmentation and parameters of spermogram, age, or percentage of unbalanced chromosomal gametes were found. Conclusion(s) The DNA fragmentation rate depends solely on the presence of a chromosomal structural abnormality, and, therefore, a chromosomal structural abnormality predicts DNA fragmentation. Both meiotic segregation and DNA fragmentation studies should be integrated in the genetic exploration of male carriers of a chromosomal structural abnormality.
doi_str_mv 10.1016/j.fertnstert.2008.06.052
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Design Case series. Setting University hospital. Patient(s) Thirty-seven male carriers of a chromosomal structural abnormality (21 with a balanced reciprocal translocation, 7 with a robertsonian translocation, 9 with a pericentric inversion). Intervention(s) Meiotic segregation was analyzed by the human sperm–hamster oocyte fusion technique or by fluorescent in situ hybridization, and DNA fragmentation was detected by terminal deoxynucleotidyl transferase–mediated dUTP nick-end labeling assay. Main Outcome Measure(s) Relationships between abnormal sperm parameters, DNA fragmentation, and meiotic mechanisms. Result(s) The average rates of chromosomally unbalanced spermatozoa were 55.22%, 14.09%, and 18.43% for reciprocal translocation, robertsonian translocation, and pericentric inversion carriers, respectively. The rates of DNA fragmentation were significantly higher in the whole group of carriers of a chromosomal structural abnormality and in each specific group than in the control group. No correlations between sperm DNA fragmentation and parameters of spermogram, age, or percentage of unbalanced chromosomal gametes were found. Conclusion(s) The DNA fragmentation rate depends solely on the presence of a chromosomal structural abnormality, and, therefore, a chromosomal structural abnormality predicts DNA fragmentation. Both meiotic segregation and DNA fragmentation studies should be integrated in the genetic exploration of male carriers of a chromosomal structural abnormality.</description><identifier>ISSN: 0015-0282</identifier><identifier>EISSN: 1556-5653</identifier><identifier>DOI: 10.1016/j.fertnstert.2008.06.052</identifier><identifier>PMID: 18706548</identifier><identifier>CODEN: FESTAS</identifier><language>eng</language><publisher>New York, NY: Elsevier Inc</publisher><subject>Apoptosis - genetics ; Biological and medical sciences ; Birth control ; Cells, Cultured ; Chromosome Aberrations ; DNA Fragmentation ; FISH ; Gynecology. Andrology. Obstetrics ; Heterozygote ; Humans ; Infertility, Male - genetics ; Infertility, Male - pathology ; Internal Medicine ; Male ; male infertility ; Medical sciences ; Meiosis - genetics ; meiotic segregation ; Obstetrics and Gynecology ; Spermatogenesis - genetics ; Spermatozoa ; Sterility. 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Design Case series. Setting University hospital. Patient(s) Thirty-seven male carriers of a chromosomal structural abnormality (21 with a balanced reciprocal translocation, 7 with a robertsonian translocation, 9 with a pericentric inversion). Intervention(s) Meiotic segregation was analyzed by the human sperm–hamster oocyte fusion technique or by fluorescent in situ hybridization, and DNA fragmentation was detected by terminal deoxynucleotidyl transferase–mediated dUTP nick-end labeling assay. Main Outcome Measure(s) Relationships between abnormal sperm parameters, DNA fragmentation, and meiotic mechanisms. Result(s) The average rates of chromosomally unbalanced spermatozoa were 55.22%, 14.09%, and 18.43% for reciprocal translocation, robertsonian translocation, and pericentric inversion carriers, respectively. The rates of DNA fragmentation were significantly higher in the whole group of carriers of a chromosomal structural abnormality and in each specific group than in the control group. No correlations between sperm DNA fragmentation and parameters of spermogram, age, or percentage of unbalanced chromosomal gametes were found. Conclusion(s) The DNA fragmentation rate depends solely on the presence of a chromosomal structural abnormality, and, therefore, a chromosomal structural abnormality predicts DNA fragmentation. Both meiotic segregation and DNA fragmentation studies should be integrated in the genetic exploration of male carriers of a chromosomal structural abnormality.</description><subject>Apoptosis - genetics</subject><subject>Biological and medical sciences</subject><subject>Birth control</subject><subject>Cells, Cultured</subject><subject>Chromosome Aberrations</subject><subject>DNA Fragmentation</subject><subject>FISH</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Infertility, Male - genetics</subject><subject>Infertility, Male - pathology</subject><subject>Internal Medicine</subject><subject>Male</subject><subject>male infertility</subject><subject>Medical sciences</subject><subject>Meiosis - genetics</subject><subject>meiotic segregation</subject><subject>Obstetrics and Gynecology</subject><subject>Spermatogenesis - genetics</subject><subject>Spermatozoa</subject><subject>Sterility. 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Design Case series. Setting University hospital. Patient(s) Thirty-seven male carriers of a chromosomal structural abnormality (21 with a balanced reciprocal translocation, 7 with a robertsonian translocation, 9 with a pericentric inversion). Intervention(s) Meiotic segregation was analyzed by the human sperm–hamster oocyte fusion technique or by fluorescent in situ hybridization, and DNA fragmentation was detected by terminal deoxynucleotidyl transferase–mediated dUTP nick-end labeling assay. Main Outcome Measure(s) Relationships between abnormal sperm parameters, DNA fragmentation, and meiotic mechanisms. Result(s) The average rates of chromosomally unbalanced spermatozoa were 55.22%, 14.09%, and 18.43% for reciprocal translocation, robertsonian translocation, and pericentric inversion carriers, respectively. The rates of DNA fragmentation were significantly higher in the whole group of carriers of a chromosomal structural abnormality and in each specific group than in the control group. No correlations between sperm DNA fragmentation and parameters of spermogram, age, or percentage of unbalanced chromosomal gametes were found. Conclusion(s) The DNA fragmentation rate depends solely on the presence of a chromosomal structural abnormality, and, therefore, a chromosomal structural abnormality predicts DNA fragmentation. Both meiotic segregation and DNA fragmentation studies should be integrated in the genetic exploration of male carriers of a chromosomal structural abnormality.</abstract><cop>New York, NY</cop><pub>Elsevier Inc</pub><pmid>18706548</pmid><doi>10.1016/j.fertnstert.2008.06.052</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record>
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source MEDLINE; Elsevier ScienceDirect Journals Complete; EZB-FREE-00999 freely available EZB journals; Alma/SFX Local Collection
subjects Apoptosis - genetics
Biological and medical sciences
Birth control
Cells, Cultured
Chromosome Aberrations
DNA Fragmentation
FISH
Gynecology. Andrology. Obstetrics
Heterozygote
Humans
Infertility, Male - genetics
Infertility, Male - pathology
Internal Medicine
Male
male infertility
Medical sciences
Meiosis - genetics
meiotic segregation
Obstetrics and Gynecology
Spermatogenesis - genetics
Spermatozoa
Sterility. Assisted procreation
TUNEL
title DNA fragmentation and meiotic segregation in sperm of carriers of a chromosomal structural abnormality
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