Sperm DNA Integrity and Meiotic Behavior Assessment in an Infertile Male Carrier of a 9qh+++ Polymorphism

Although several reports on male infertility suggest a relationship between chromosome 9 polymorphisms and infertility, the effects on the phenotype have not been extensively reported. In this study, an infertile patient was found to carry a 9qh+++ chromosome. The flow cytometric TUNEL assay and SCD...

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Veröffentlicht in:BioMed research international 2011-01, Vol.2011 (2011), p.1-8
Hauptverfasser: Oliver-Bonet, M., García-Peiró, Agustín, Navarro, J., Abad, C., Guitart, Miriam, Amengual, María J., Benet, Jordi
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container_issue 2011
container_start_page 1
container_title BioMed research international
container_volume 2011
creator Oliver-Bonet, M.
García-Peiró, Agustín
Navarro, J.
Abad, C.
Guitart, Miriam
Amengual, María J.
Benet, Jordi
description Although several reports on male infertility suggest a relationship between chromosome 9 polymorphisms and infertility, the effects on the phenotype have not been extensively reported. In this study, an infertile patient was found to carry a 9qh+++ chromosome. The flow cytometric TUNEL assay and SCD test have been applied to characterize sperm DNA integrity. In order to assess its meiotic behaviour, synapsis, recombination, and aneuploidy, analyses have been also performed. Sperm DNA fragmentation (SDF) was 77.81% and 87% for the TUNEL and SCD tests, respectively. Ninety-two percent of pachytene cells analyzed showed meiotic abnormalities. The mean number of MLH1 foci per pachytene in the control group was higher (49) than the mean found in the 9qh+++ patient (38) (P
doi_str_mv 10.1155/2011/730847
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In this study, an infertile patient was found to carry a 9qh+++ chromosome. The flow cytometric TUNEL assay and SCD test have been applied to characterize sperm DNA integrity. In order to assess its meiotic behaviour, synapsis, recombination, and aneuploidy, analyses have been also performed. Sperm DNA fragmentation (SDF) was 77.81% and 87% for the TUNEL and SCD tests, respectively. Ninety-two percent of pachytene cells analyzed showed meiotic abnormalities. The mean number of MLH1 foci per pachytene in the control group was higher (49) than the mean found in the 9qh+++ patient (38) (P&lt;.0001). In spermatozoa, significant increases of disomy rates were observed for chromosome 18 and for the sex chromosomes (P&lt;.0001). 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García-Peiró et al.</rights><rights>COPYRIGHT 2011 John Wiley &amp; Sons, Inc.</rights><rights>Copyright © 2011 A. García-Peiró et al. A. García-Peiró et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.</rights><rights>Copyright © 2011 A. García-Peiró et al. 2011 Copyright © 2011 A. García-Peiró et al.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c569t-87305259a883a90b70d7f02cda47d5dbe4d8f701742b174f278adf1606546a833</citedby><cites>FETCH-LOGICAL-c569t-87305259a883a90b70d7f02cda47d5dbe4d8f701742b174f278adf1606546a833</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3004426/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3004426/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,725,778,782,883,27911,27912,53778,53780</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21197455$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><contributor>Doetsch, Paul W.</contributor><creatorcontrib>Oliver-Bonet, M.</creatorcontrib><creatorcontrib>García-Peiró, Agustín</creatorcontrib><creatorcontrib>Navarro, J.</creatorcontrib><creatorcontrib>Abad, C.</creatorcontrib><creatorcontrib>Guitart, Miriam</creatorcontrib><creatorcontrib>Amengual, María J.</creatorcontrib><creatorcontrib>Benet, Jordi</creatorcontrib><title>Sperm DNA Integrity and Meiotic Behavior Assessment in an Infertile Male Carrier of a 9qh+++ Polymorphism</title><title>BioMed research international</title><addtitle>J Biomed Biotechnol</addtitle><description>Although several reports on male infertility suggest a relationship between chromosome 9 polymorphisms and infertility, the effects on the phenotype have not been extensively reported. In this study, an infertile patient was found to carry a 9qh+++ chromosome. The flow cytometric TUNEL assay and SCD test have been applied to characterize sperm DNA integrity. In order to assess its meiotic behaviour, synapsis, recombination, and aneuploidy, analyses have been also performed. Sperm DNA fragmentation (SDF) was 77.81% and 87% for the TUNEL and SCD tests, respectively. Ninety-two percent of pachytene cells analyzed showed meiotic abnormalities. The mean number of MLH1 foci per pachytene in the control group was higher (49) than the mean found in the 9qh+++ patient (38) (P&lt;.0001). In spermatozoa, significant increases of disomy rates were observed for chromosome 18 and for the sex chromosomes (P&lt;.0001). 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subjects Adaptor Proteins, Signal Transducing - genetics
Adult
Aneuploidy
Apoptosis
Biomedical research
Care and treatment
Chromatin Assembly and Disassembly
Chromosomes
Chromosomes, Human, Pair 9
Clinical medicine
Diagnosis
DNA - chemistry
DNA - metabolism
DNA Damage
Fertility
Flow Cytometry
Humans
In Situ Hybridization, Fluorescence
In Situ Nick-End Labeling
Infertility
Infertility, Male - genetics
Infertility, Male - physiopathology
Male
MutL Protein Homolog 1
Nuclear Proteins - genetics
Pachytene Stage - genetics
Physiological aspects
Polymorphism
Polymorphism, Genetic
Reproductive system
Spermatozoa
Spermatozoa - chemistry
Spermatozoa - cytology
Spermatozoa - physiology
Studies
Synaptonemal Complex - genetics
title Sperm DNA Integrity and Meiotic Behavior Assessment in an Infertile Male Carrier of a 9qh+++ Polymorphism
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