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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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 |
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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<.0001). In spermatozoa, significant increases of disomy rates were observed for chromosome 18 and for the sex chromosomes (P<.0001). These disturbances could be present in other male carriers of a less marked 9qh+.</description><identifier>ISSN: 1110-7243</identifier><identifier>ISSN: 2314-6133</identifier><identifier>EISSN: 1110-7251</identifier><identifier>EISSN: 2314-6141</identifier><identifier>DOI: 10.1155/2011/730847</identifier><identifier>PMID: 21197455</identifier><language>eng</language><publisher>Cairo, Egypt: Hindawi Puplishing Corporation</publisher><subject>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</subject><ispartof>BioMed research international, 2011-01, Vol.2011 (2011), p.1-8</ispartof><rights>Copyright © 2011 A. García-Peiró et al.</rights><rights>COPYRIGHT 2011 John Wiley & 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<.0001). In spermatozoa, significant increases of disomy rates were observed for chromosome 18 and for the sex chromosomes (P<.0001). These disturbances could be present in other male carriers of a less marked 9qh+.</description><subject>Adaptor Proteins, Signal Transducing - genetics</subject><subject>Adult</subject><subject>Aneuploidy</subject><subject>Apoptosis</subject><subject>Biomedical research</subject><subject>Care and treatment</subject><subject>Chromatin Assembly and Disassembly</subject><subject>Chromosomes</subject><subject>Chromosomes, Human, Pair 9</subject><subject>Clinical medicine</subject><subject>Diagnosis</subject><subject>DNA - chemistry</subject><subject>DNA - metabolism</subject><subject>DNA Damage</subject><subject>Fertility</subject><subject>Flow Cytometry</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>In Situ Nick-End Labeling</subject><subject>Infertility</subject><subject>Infertility, Male - genetics</subject><subject>Infertility, Male - physiopathology</subject><subject>Male</subject><subject>MutL Protein Homolog 1</subject><subject>Nuclear Proteins - genetics</subject><subject>Pachytene Stage - genetics</subject><subject>Physiological aspects</subject><subject>Polymorphism</subject><subject>Polymorphism, Genetic</subject><subject>Reproductive system</subject><subject>Spermatozoa</subject><subject>Spermatozoa - chemistry</subject><subject>Spermatozoa - cytology</subject><subject>Spermatozoa - physiology</subject><subject>Studies</subject><subject>Synaptonemal Complex - genetics</subject><issn>1110-7243</issn><issn>2314-6133</issn><issn>1110-7251</issn><issn>2314-6141</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>RHX</sourceid><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqF0u9r1DAYB_AiipvTV75WwnwheHRL0qRJ3gjn-WuwqaC-Drn2yTWjTW5Jb3L_vTk6DycHUkgL_eSbPA9PUTwn-IwQzs8pJuRcVFgy8aA4JoTgUlBOHu6_WXVUPEnpGmMiZK0eF0eUECUY58eF-76GOKD3X-bowo-wim7cIuNbdAUujK5B76Azty5ENE8JUhrAj8j5TLK3EEfXA7oyeVmYGB1EFCwySN10s9kMfQv9dghx3bk0PC0eWdMneHb3Pil-fvzwY_G5vPz66WIxvywbXquxlLkSTrkyUlZG4aXArbCYNq1houXtElgrrciVMLrMi6VCmtaSGtec1UZW1Unxdspdb5YDtE2-cDS9Xkc3mLjVwTh9_493nV6FW11hzBitc8Dru4AYbjaQRj241EDfGw9hk7SktOKyZrujTv-R12ETfa5Oy1yMUATLjF5NaJW7pJ23IZ_a7CL1nNZ1TZVSIqvygFqBh3zF4MHmPt_3Zwd8floYXHNww2za0MSQUgS77wjBejdHejdHepqjrF_-3cS9_TM4GbyZQOd8a365_6S9mDBkAtbsMVMs2-o338PV1A</recordid><startdate>20110101</startdate><enddate>20110101</enddate><creator>Oliver-Bonet, M.</creator><creator>García-Peiró, Agustín</creator><creator>Navarro, J.</creator><creator>Abad, C.</creator><creator>Guitart, Miriam</creator><creator>Amengual, María J.</creator><creator>Benet, Jordi</creator><general>Hindawi Puplishing Corporation</general><general>Hindawi Publishing Corporation</general><general>John Wiley & Sons, Inc</general><general>Hindawi Limited</general><scope>ADJCN</scope><scope>AHFXO</scope><scope>RHU</scope><scope>RHW</scope><scope>RHX</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7QL</scope><scope>7QO</scope><scope>7T7</scope><scope>7TK</scope><scope>7U7</scope><scope>7U9</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FD</scope><scope>8FE</scope><scope>8FG</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>ARAPS</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BGLVJ</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>CWDGH</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7N</scope><scope>M7P</scope><scope>P5Z</scope><scope>P62</scope><scope>P64</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20110101</creationdate><title>Sperm DNA Integrity and Meiotic Behavior Assessment in an Infertile Male Carrier of a 9qh+++ Polymorphism</title><author>Oliver-Bonet, M. ; García-Peiró, Agustín ; Navarro, J. ; Abad, C. ; Guitart, Miriam ; Amengual, María J. ; Benet, Jordi</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c569t-87305259a883a90b70d7f02cda47d5dbe4d8f701742b174f278adf1606546a833</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Adaptor Proteins, Signal Transducing - 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Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>BioMed research international</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Oliver-Bonet, M.</au><au>García-Peiró, Agustín</au><au>Navarro, J.</au><au>Abad, C.</au><au>Guitart, Miriam</au><au>Amengual, María J.</au><au>Benet, Jordi</au><au>Doetsch, Paul W.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Sperm DNA Integrity and Meiotic Behavior Assessment in an Infertile Male Carrier of a 9qh+++ Polymorphism</atitle><jtitle>BioMed research international</jtitle><addtitle>J Biomed Biotechnol</addtitle><date>2011-01-01</date><risdate>2011</risdate><volume>2011</volume><issue>2011</issue><spage>1</spage><epage>8</epage><pages>1-8</pages><issn>1110-7243</issn><issn>2314-6133</issn><eissn>1110-7251</eissn><eissn>2314-6141</eissn><abstract>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<.0001). In spermatozoa, significant increases of disomy rates were observed for chromosome 18 and for the sex chromosomes (P<.0001). These disturbances could be present in other male carriers of a less marked 9qh+.</abstract><cop>Cairo, Egypt</cop><pub>Hindawi Puplishing Corporation</pub><pmid>21197455</pmid><doi>10.1155/2011/730847</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
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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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