Mutation Frequency of Cystic Fibrosis Transmembrane Regulator is not Increased in Oligozoospermic Male Candidates For Intracytoplasmic Sperm Injection
Identifieur interne : 004097 ( Istex/Corpus ); précédent : 004096; suivant : 004098Mutation Frequency of Cystic Fibrosis Transmembrane Regulator is not Increased in Oligozoospermic Male Candidates For Intracytoplasmic Sperm Injection
Auteurs : Joep H. A. M Tuerlings M. D. ; Bart Mol Ph. D. ; Jan A. M Kremer M. D. Ph. D. ; Maaike Looman M. Sc. ; Eric J. H Meuleman M. D. Ph. D. ; Gerard J. Te Meerman Ph. D. ; Charles H. C. M Buys Ph. D. ; Hans M. W. M Merkus M. D. Ph. D. ; Hans Scheffer Ph. D.Source :
- Fertility and Sterility [ 0015-0282 ] ; 1998.
English descriptors
Abstract
Objective: To examine the frequency of anomalies of the vas deferens and the frequency of mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in male candidates for intracytoplasmic sperm injection (ICSI) who had severe oligoasthenoteratozoospermia. Design: The clinical data for male candidates for ICSI were studied. The three most frequent cystic fibrosis (CF)-causing CFTR mutations in the Dutch population (ΔF508, A455E, and G542X) and the three most frequent CFTR mutations potentially causing congenital bilateral absence of the vas deferens (CBAVD) in the Dutch population (ΔF508, R117H, and IVS8-5T) were analyzed. Delta I507 is also detected by the ΔF508 test. Samples of DNA from patients identified as CFTR mutation carriers were subjected to denaturing gradient gel electrophoresis analysis with use of a two-dimensional electrophoretic technique. Setting: University-based center for reproductive medicine and clinical genetics. Patient(s): Male candidates for ICSI who had oligoasthenoteratozoospermia and no history of operative sterilization and refertilization. Males with a chromosomal aberration or a Y-chromosome microdeletion were excluded. Intervention(s): Semen and blood samples were collected from the patients at their first visit to the clinic. Main Outcome Measure(s): Frequency of anomalies of the vas deferens and frequency of mutations of the CFTR gene in male candidates for ICSI who had oligoasthenoteratozoospermia. Result(s): None of the patients had abnormalities of the vas deferens at physical examination. In 4 of the 150 chromosomes (75 patients), a CFTR mutation was found, yielding a CFTR mutation frequency of 2.7% (95% confidence interval, 1.0–6.7%). None of the patients had two CFTR mutations. Conclusion(s): The frequency of congenital abnormalities of the vas deferens in patients with oligoasthenoteratozoospermia is low. The frequencies of the CFTR mutations identified in this cohort did not differ significantly from the frequencies found in the normal Dutch population.
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DOI: 10.1016/S0015-0282(98)00050-8
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<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mutation Frequency of Cystic Fibrosis Transmembrane Regulator is not Increased in Oligozoospermic Male Candidates For Intracytoplasmic Sperm Injection</title><author><name sortKey="Tuerlings M D, Joep H A M" sort="Tuerlings M D, Joep H A M" uniqKey="Tuerlings M D J" first="Joep H. A. M" last="Tuerlings M. D.">Joep H. A. M Tuerlings M. D.</name><affiliation><mods:affiliation>University Hospital Nijmegen, Nijmegen, The Netherlands,</mods:affiliation></affiliation></author><author><name sortKey="Mol Ph D, Bart" sort="Mol Ph D, Bart" uniqKey="Mol Ph D B" first="Bart" last="Mol Ph. D.">Bart Mol Ph. D.</name><affiliation><mods:affiliation>University of Groningen, Groningen, the Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Kremer M D Ph D, Jan A M" sort="Kremer M D Ph D, Jan A M" uniqKey="Kremer M D Ph D J" first="Jan A. M" last="Kremer M. D. Ph. D.">Jan A. M Kremer M. D. Ph. D.</name><affiliation><mods:affiliation>University Hospital Nijmegen, Nijmegen, The Netherlands,</mods:affiliation></affiliation></author><author><name sortKey="Looman M Sc, Maaike" sort="Looman M Sc, Maaike" uniqKey="Looman M Sc M" first="Maaike" last="Looman M. Sc.">Maaike Looman M. Sc.</name><affiliation><mods:affiliation>University of Groningen, Groningen, the Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Meuleman M D Ph D, Eric J H" sort="Meuleman M D Ph D, Eric J H" uniqKey="Meuleman M D Ph D E" first="Eric J. H" last="Meuleman M. D. Ph. D.">Eric J. H Meuleman M. D. Ph. D.</name><affiliation><mods:affiliation>University Hospital Nijmegen, Nijmegen, The Netherlands,</mods:affiliation></affiliation></author><author><name sortKey="Te Meerman Ph D, Gerard J" sort="Te Meerman Ph D, Gerard J" uniqKey="Te Meerman Ph D G" first="Gerard J" last="Te Meerman Ph. D.">Gerard J. Te Meerman Ph. D.</name><affiliation><mods:affiliation>University of Groningen, Groningen, the Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Buys Ph D, Charles H C M" sort="Buys Ph D, Charles H C M" uniqKey="Buys Ph D C" first="Charles H. C. M" last="Buys Ph. D.">Charles H. C. M Buys Ph. D.</name><affiliation><mods:affiliation>University of Groningen, Groningen, the Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Merkus M D Ph D, Hans M W M" sort="Merkus M D Ph D, Hans M W M" uniqKey="Merkus M D Ph D H" first="Hans M. W. M" last="Merkus M. D. Ph. D.">Hans M. W. M Merkus M. D. Ph. D.</name><affiliation><mods:affiliation>University Hospital Nijmegen, Nijmegen, The Netherlands,</mods:affiliation></affiliation></author><author><name sortKey="Scheffer Ph D, Hans" sort="Scheffer Ph D, Hans" uniqKey="Scheffer Ph D H" first="Hans" last="Scheffer Ph. D.">Hans Scheffer Ph. D.</name><affiliation><mods:affiliation>University of Groningen, Groningen, the Netherlands</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:89C098BC772DD6D580331502021AA809D573A619</idno><date when="1998" year="1998">1998</date><idno type="doi">10.1016/S0015-0282(98)00050-8</idno><idno type="url">https://api.istex.fr/document/89C098BC772DD6D580331502021AA809D573A619/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">004097</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">004097</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Mutation Frequency of Cystic Fibrosis Transmembrane Regulator is not Increased in Oligozoospermic Male Candidates For Intracytoplasmic Sperm Injection</title><author><name sortKey="Tuerlings M D, Joep H A M" sort="Tuerlings M D, Joep H A M" uniqKey="Tuerlings M D J" first="Joep H. A. M" last="Tuerlings M. D.">Joep H. A. M Tuerlings M. D.</name><affiliation><mods:affiliation>University Hospital Nijmegen, Nijmegen, The Netherlands,</mods:affiliation></affiliation></author><author><name sortKey="Mol Ph D, Bart" sort="Mol Ph D, Bart" uniqKey="Mol Ph D B" first="Bart" last="Mol Ph. D.">Bart Mol Ph. D.</name><affiliation><mods:affiliation>University of Groningen, Groningen, the Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Kremer M D Ph D, Jan A M" sort="Kremer M D Ph D, Jan A M" uniqKey="Kremer M D Ph D J" first="Jan A. M" last="Kremer M. D. Ph. D.">Jan A. M Kremer M. D. Ph. D.</name><affiliation><mods:affiliation>University Hospital Nijmegen, Nijmegen, The Netherlands,</mods:affiliation></affiliation></author><author><name sortKey="Looman M Sc, Maaike" sort="Looman M Sc, Maaike" uniqKey="Looman M Sc M" first="Maaike" last="Looman M. Sc.">Maaike Looman M. Sc.</name><affiliation><mods:affiliation>University of Groningen, Groningen, the Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Meuleman M D Ph D, Eric J H" sort="Meuleman M D Ph D, Eric J H" uniqKey="Meuleman M D Ph D E" first="Eric J. H" last="Meuleman M. D. Ph. D.">Eric J. H Meuleman M. D. Ph. D.</name><affiliation><mods:affiliation>University Hospital Nijmegen, Nijmegen, The Netherlands,</mods:affiliation></affiliation></author><author><name sortKey="Te Meerman Ph D, Gerard J" sort="Te Meerman Ph D, Gerard J" uniqKey="Te Meerman Ph D G" first="Gerard J" last="Te Meerman Ph. D.">Gerard J. Te Meerman Ph. D.</name><affiliation><mods:affiliation>University of Groningen, Groningen, the Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Buys Ph D, Charles H C M" sort="Buys Ph D, Charles H C M" uniqKey="Buys Ph D C" first="Charles H. C. M" last="Buys Ph. D.">Charles H. C. M Buys Ph. D.</name><affiliation><mods:affiliation>University of Groningen, Groningen, the Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Merkus M D Ph D, Hans M W M" sort="Merkus M D Ph D, Hans M W M" uniqKey="Merkus M D Ph D H" first="Hans M. W. M" last="Merkus M. D. Ph. D.">Hans M. W. M Merkus M. D. Ph. D.</name><affiliation><mods:affiliation>University Hospital Nijmegen, Nijmegen, The Netherlands,</mods:affiliation></affiliation></author><author><name sortKey="Scheffer Ph D, Hans" sort="Scheffer Ph D, Hans" uniqKey="Scheffer Ph D H" first="Hans" last="Scheffer Ph. D.">Hans Scheffer Ph. D.</name><affiliation><mods:affiliation>University of Groningen, Groningen, the Netherlands</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Fertility and Sterility</title><title level="j" type="abbrev">FNS</title><idno type="ISSN">0015-0282</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="1998">1998</date><biblScope unit="volume">69</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="899">899</biblScope><biblScope unit="page" to="903">903</biblScope></imprint><idno type="ISSN">0015-0282</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0015-0282</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>CFTR mutations</term><term>OAT</term><term>cystic fibrosis</term><term>infertility</term><term>vas deferens abnormalities</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Objective: To examine the frequency of anomalies of the vas deferens and the frequency of mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in male candidates for intracytoplasmic sperm injection (ICSI) who had severe oligoasthenoteratozoospermia. Design: The clinical data for male candidates for ICSI were studied. The three most frequent cystic fibrosis (CF)-causing CFTR mutations in the Dutch population (ΔF508, A455E, and G542X) and the three most frequent CFTR mutations potentially causing congenital bilateral absence of the vas deferens (CBAVD) in the Dutch population (ΔF508, R117H, and IVS8-5T) were analyzed. Delta I507 is also detected by the ΔF508 test. Samples of DNA from patients identified as CFTR mutation carriers were subjected to denaturing gradient gel electrophoresis analysis with use of a two-dimensional electrophoretic technique. Setting: University-based center for reproductive medicine and clinical genetics. Patient(s): Male candidates for ICSI who had oligoasthenoteratozoospermia and no history of operative sterilization and refertilization. Males with a chromosomal aberration or a Y-chromosome microdeletion were excluded. Intervention(s): Semen and blood samples were collected from the patients at their first visit to the clinic. Main Outcome Measure(s): Frequency of anomalies of the vas deferens and frequency of mutations of the CFTR gene in male candidates for ICSI who had oligoasthenoteratozoospermia. Result(s): None of the patients had abnormalities of the vas deferens at physical examination. In 4 of the 150 chromosomes (75 patients), a CFTR mutation was found, yielding a CFTR mutation frequency of 2.7% (95% confidence interval, 1.0–6.7%). None of the patients had two CFTR mutations. Conclusion(s): The frequency of congenital abnormalities of the vas deferens in patients with oligoasthenoteratozoospermia is low. The frequencies of the CFTR mutations identified in this cohort did not differ significantly from the frequencies found in the normal Dutch population.</div></front></TEI><istex><corpusName>elsevier</corpusName><keywords><teeft><json:string>mutation</json:string><json:string>cftr</json:string><json:string>deferens</json:string><json:string>cftr mutations</json:string><json:string>chromosome</json:string><json:string>oligoasthenoteratozoospermia</json:string><json:string>cystic</json:string><json:string>sperm</json:string><json:string>icsi</json:string><json:string>semen</json:string><json:string>brosis</json:string><json:string>abnormality</json:string><json:string>allele</json:string><json:string>cftr gene</json:string><json:string>congenital</json:string><json:string>nijmegen</json:string><json:string>infertility</json:string><json:string>cftr mutation</json:string><json:string>normal population</json:string><json:string>male candidates</json:string><json:string>university hospital nijmegen</json:string><json:string>dutch population</json:string><json:string>intracytoplasmic sperm injection</json:string><json:string>infertile</json:string><json:string>denaturing gradient</json:string><json:string>physical examination</json:string><json:string>sperm concentration</json:string><json:string>frequent cftr mutations</json:string><json:string>second mutation</json:string><json:string>semen analysis</json:string><json:string>reproductive medicine</json:string></teeft></keywords><author><json:item><name>Joep H.A.M Tuerlings, M.D.</name><affiliations><json:string>University Hospital Nijmegen, Nijmegen, The Netherlands,</json:string></affiliations></json:item><json:item><name>Bart Mol, Ph.D.</name><affiliations><json:string>University of Groningen, Groningen, the Netherlands</json:string></affiliations></json:item><json:item><name>Jan A.M Kremer, M.D., Ph.D.</name><affiliations><json:string>University Hospital Nijmegen, Nijmegen, The Netherlands,</json:string></affiliations></json:item><json:item><name>Maaike Looman, M.Sc.</name><affiliations><json:string>University of Groningen, Groningen, the Netherlands</json:string></affiliations></json:item><json:item><name>Eric J.H Meuleman, M.D., Ph.D.</name><affiliations><json:string>University Hospital Nijmegen, Nijmegen, The Netherlands,</json:string></affiliations></json:item><json:item><name>Gerard J te Meerman, Ph.D.</name><affiliations><json:string>University of Groningen, Groningen, the Netherlands</json:string></affiliations></json:item><json:item><name>Charles H.C.M Buys, Ph.D.</name><affiliations><json:string>University of Groningen, Groningen, the Netherlands</json:string></affiliations></json:item><json:item><name>Hans M.W.M Merkus, M.D., Ph.D.</name><affiliations><json:string>University Hospital Nijmegen, Nijmegen, The Netherlands,</json:string></affiliations></json:item><json:item><name>Hans Scheffer, Ph.D.</name><affiliations><json:string>University of Groningen, Groningen, the Netherlands</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>CFTR mutations</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>cystic fibrosis</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>vas deferens abnormalities</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>infertility</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>OAT</value></json:item></subject><language><json:string>eng</json:string></language><originalGenre><json:string>Full-length article</json:string></originalGenre><abstract>Objective: To examine the frequency of anomalies of the vas deferens and the frequency of mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in male candidates for intracytoplasmic sperm injection (ICSI) who had severe oligoasthenoteratozoospermia. Design: The clinical data for male candidates for ICSI were studied. The three most frequent cystic fibrosis (CF)-causing CFTR mutations in the Dutch population (ΔF508, A455E, and G542X) and the three most frequent CFTR mutations potentially causing congenital bilateral absence of the vas deferens (CBAVD) in the Dutch population (ΔF508, R117H, and IVS8-5T) were analyzed. Delta I507 is also detected by the ΔF508 test. Samples of DNA from patients identified as CFTR mutation carriers were subjected to denaturing gradient gel electrophoresis analysis with use of a two-dimensional electrophoretic technique. Setting: University-based center for reproductive medicine and clinical genetics. Patient(s): Male candidates for ICSI who had oligoasthenoteratozoospermia and no history of operative sterilization and refertilization. Males with a chromosomal aberration or a Y-chromosome microdeletion were excluded. Intervention(s): Semen and blood samples were collected from the patients at their first visit to the clinic. Main Outcome Measure(s): Frequency of anomalies of the vas deferens and frequency of mutations of the CFTR gene in male candidates for ICSI who had oligoasthenoteratozoospermia. Result(s): None of the patients had abnormalities of the vas deferens at physical examination. In 4 of the 150 chromosomes (75 patients), a CFTR mutation was found, yielding a CFTR mutation frequency of 2.7% (95% confidence interval, 1.0–6.7%). None of the patients had two CFTR mutations. Conclusion(s): The frequency of congenital abnormalities of the vas deferens in patients with oligoasthenoteratozoospermia is low. The frequencies of the CFTR mutations identified in this cohort did not differ significantly from the frequencies found in the normal Dutch population.</abstract><qualityIndicators><score>6.239</score><pdfVersion>1.2</pdfVersion><pdfPageSize>587 x 786 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>5</keywordCount><abstractCharCount>2040</abstractCharCount><pdfWordCount>3239</pdfWordCount><pdfCharCount>20368</pdfCharCount><pdfPageCount>5</pdfPageCount><abstractWordCount>289</abstractWordCount></qualityIndicators><title>Mutation Frequency of Cystic Fibrosis Transmembrane Regulator is not Increased in Oligozoospermic Male Candidates For Intracytoplasmic Sperm Injection</title><pii><json:string>S0015-0282(98)00050-8</json:string></pii><genre><json:string>research-article</json:string></genre><host><title>Fertility and Sterility</title><language><json:string>unknown</json:string></language><publicationDate>1998</publicationDate><issn><json:string>0015-0282</json:string></issn><pii><json:string>S0015-0282(00)X0018-0</json:string></pii><volume>69</volume><issue>5</issue><pages><first>899</first><last>903</last></pages><genre><json:string>journal</json:string></genre></host><categories><wos><json:string>science</json:string><json:string>reproductive biology</json:string><json:string>obstetrics & gynecology</json:string></wos><scienceMetrix><json:string>health sciences</json:string><json:string>clinical medicine</json:string><json:string>obstetrics & reproductive medicine</json:string></scienceMetrix><inist><json:string>sciences appliquees, technologies et medecines</json:string><json:string>sciences biologiques et medicales</json:string><json:string>sciences medicales</json:string><json:string>gynecologie. andrologie. obstetrique</json:string></inist></categories><publicationDate>1998</publicationDate><copyrightDate>1998</copyrightDate><doi><json:string>10.1016/S0015-0282(98)00050-8</json:string></doi><id>89C098BC772DD6D580331502021AA809D573A619</id><score>1</score><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api.istex.fr/document/89C098BC772DD6D580331502021AA809D573A619/fulltext/pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api.istex.fr/document/89C098BC772DD6D580331502021AA809D573A619/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/89C098BC772DD6D580331502021AA809D573A619/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Mutation Frequency of Cystic Fibrosis Transmembrane Regulator is not Increased in Oligozoospermic Male Candidates For Intracytoplasmic Sperm Injection</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>ELSEVIER</publisher><availability><p>©1998 Elsevier Science Inc.</p></availability><date>1998</date></publicationStmt><notesStmt><note>This work was supported in part by grant 28-2490 from The Dutch Prevention Fund to H.S., G.J.t.M., and C.H.C.M.B.</note><note type="content">Section title: Andrology/Urology</note><note type="content">Table 1: Testis Volume and Mean Indices of the Semen Analysis in the Men Without and the Four Men With a Cystic Fibrosis Transmembrane Regulator Gene Mutation.</note><note type="content">Table 2: Frequencies of Mutations in the Cystic Fibrosis Transmembrane Regulator in the General Dutch Population, in the Investigated Male Candidates for ICSI Who Had Oligoasthenoteratozoospermia, in Patients With Congenital Bilateral Absence of the Vas Deferens, and in Patients With Cystic Fibrosis.</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Mutation Frequency of Cystic Fibrosis Transmembrane Regulator is not Increased in Oligozoospermic Male Candidates For Intracytoplasmic Sperm Injection</title><author xml:id="author-0000"><persName><forename type="first">Joep H.A.M</forename><surname>Tuerlings, M.D.</surname></persName><note type="biography">Joep H.A.M. Tuerlings, M.D., Department of Human Genetics, P.O. Box 9101, 6500HB Nijmegen, the Netherlands (FAX: 003124-3542151; e-mail: J.TUERLINGS@ANTRG.AZN.NL).</note><note type="biography">Department of Human Genetics, University Hospital Nijmegen.</note><affiliation>Joep H.A.M. Tuerlings, M.D., Department of Human Genetics, P.O. Box 9101, 6500HB Nijmegen, the Netherlands (FAX: 003124-3542151; e-mail: J.TUERLINGS@ANTRG.AZN.NL).</affiliation><affiliation>Department of Human Genetics, University Hospital Nijmegen.</affiliation><affiliation>University Hospital Nijmegen, Nijmegen, The Netherlands,</affiliation></author><author xml:id="author-0001"><persName><forename type="first">Bart</forename><surname>Mol, Ph.D.</surname></persName><note type="biography">Department of Medical Genetics, University of Groningen.</note><affiliation>Department of Medical Genetics, University of Groningen.</affiliation><affiliation>University of Groningen, Groningen, the Netherlands</affiliation></author><author xml:id="author-0002"><persName><forename type="first">Jan A.M</forename><surname>Kremer, M.D., Ph.D.</surname></persName><note type="biography">Department of Gynecology, University Hospital Nijmegen.</note><affiliation>Department of Gynecology, University Hospital Nijmegen.</affiliation><affiliation>University Hospital Nijmegen, Nijmegen, The Netherlands,</affiliation></author><author xml:id="author-0003"><persName><forename type="first">Maaike</forename><surname>Looman, M.Sc.</surname></persName><note type="biography">Department of Medical Genetics, University of Groningen.</note><affiliation>Department of Medical Genetics, University of Groningen.</affiliation><affiliation>University of Groningen, Groningen, the Netherlands</affiliation></author><author xml:id="author-0004"><persName><forename type="first">Eric J.H</forename><surname>Meuleman, M.D., Ph.D.</surname></persName><note type="biography">Department of Urology, University Hospital Nijmegen.</note><affiliation>Department of Urology, University Hospital Nijmegen.</affiliation><affiliation>University Hospital Nijmegen, Nijmegen, The Netherlands,</affiliation></author><author xml:id="author-0005"><persName><forename type="first">Gerard J</forename><surname>te Meerman, Ph.D.</surname></persName><note type="biography">Department of Medical Genetics, University of Groningen.</note><affiliation>Department of Medical Genetics, University of Groningen.</affiliation><affiliation>University of Groningen, Groningen, the Netherlands</affiliation></author><author xml:id="author-0006"><persName><forename type="first">Charles H.C.M</forename><surname>Buys, Ph.D.</surname></persName><note type="biography">Department of Medical Genetics, University of Groningen.</note><affiliation>Department of Medical Genetics, University of Groningen.</affiliation><affiliation>University of Groningen, Groningen, the Netherlands</affiliation></author><author xml:id="author-0007"><persName><forename type="first">Hans M.W.M</forename><surname>Merkus, M.D., Ph.D.</surname></persName><note type="biography">Department of Gynecology, University Hospital Nijmegen.</note><affiliation>Department of Gynecology, University Hospital Nijmegen.</affiliation><affiliation>University Hospital Nijmegen, Nijmegen, The Netherlands,</affiliation></author><author xml:id="author-0008"><persName><forename type="first">Hans</forename><surname>Scheffer, Ph.D.</surname></persName><note type="biography">Department of Medical Genetics, University of Groningen.</note><affiliation>Department of Medical Genetics, University of Groningen.</affiliation><affiliation>University of Groningen, Groningen, the Netherlands</affiliation></author><idno type="istex">89C098BC772DD6D580331502021AA809D573A619</idno><idno type="DOI">10.1016/S0015-0282(98)00050-8</idno><idno type="PII">S0015-0282(98)00050-8</idno></analytic><monogr><title level="j">Fertility and Sterility</title><title level="j" type="abbrev">FNS</title><idno type="pISSN">0015-0282</idno><idno type="PII">S0015-0282(00)X0018-0</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="1998"></date><biblScope unit="volume">69</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="899">899</biblScope><biblScope unit="page" to="903">903</biblScope></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>1998</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Objective: To examine the frequency of anomalies of the vas deferens and the frequency of mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in male candidates for intracytoplasmic sperm injection (ICSI) who had severe oligoasthenoteratozoospermia. Design: The clinical data for male candidates for ICSI were studied. The three most frequent cystic fibrosis (CF)-causing CFTR mutations in the Dutch population (ΔF508, A455E, and G542X) and the three most frequent CFTR mutations potentially causing congenital bilateral absence of the vas deferens (CBAVD) in the Dutch population (ΔF508, R117H, and IVS8-5T) were analyzed. Delta I507 is also detected by the ΔF508 test. Samples of DNA from patients identified as CFTR mutation carriers were subjected to denaturing gradient gel electrophoresis analysis with use of a two-dimensional electrophoretic technique. Setting: University-based center for reproductive medicine and clinical genetics. Patient(s): Male candidates for ICSI who had oligoasthenoteratozoospermia and no history of operative sterilization and refertilization. Males with a chromosomal aberration or a Y-chromosome microdeletion were excluded. Intervention(s): Semen and blood samples were collected from the patients at their first visit to the clinic. Main Outcome Measure(s): Frequency of anomalies of the vas deferens and frequency of mutations of the CFTR gene in male candidates for ICSI who had oligoasthenoteratozoospermia. Result(s): None of the patients had abnormalities of the vas deferens at physical examination. In 4 of the 150 chromosomes (75 patients), a CFTR mutation was found, yielding a CFTR mutation frequency of 2.7% (95% confidence interval, 1.0–6.7%). None of the patients had two CFTR mutations. Conclusion(s): The frequency of congenital abnormalities of the vas deferens in patients with oligoasthenoteratozoospermia is low. The frequencies of the CFTR mutations identified in this cohort did not differ significantly from the frequencies found in the normal Dutch population.</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>CFTR mutations</term></item><item><term>cystic fibrosis</term></item><item><term>vas deferens abnormalities</term></item><item><term>infertility</term></item><item><term>OAT</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="1998-01-16">Modified</change><change when="1998">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/89C098BC772DD6D580331502021AA809D573A619/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Elsevier, elements deleted: ce:floats; body; tail"><istex:xmlDeclaration>version="1.0" encoding="utf-8"</istex:xmlDeclaration><istex:docType PUBLIC="-//ES//DTD journal article DTD version 4.5.2//EN//XML" URI="art452.dtd" name="istex:docType"></istex:docType><istex:document><converted-article version="4.5.2" docsubtype="fla" xml:lang="en"><item-info><jid>FNS</jid><aid>5519</aid><ce:pii>S0015-0282(98)00050-8</ce:pii><ce:doi>10.1016/S0015-0282(98)00050-8</ce:doi><ce:copyright year="1998" type="full-transfer">Elsevier Science Inc.</ce:copyright></item-info><head><ce:dochead><ce:textfn>Andrology/Urology</ce:textfn></ce:dochead><ce:title>Mutation Frequency of Cystic Fibrosis Transmembrane Regulator is not Increased in Oligozoospermic Male Candidates For Intracytoplasmic Sperm Injection <ce:cross-ref refid="FN1"><ce:sup>1</ce:sup></ce:cross-ref><ce:footnote id="FN1"><ce:label>1</ce:label><ce:note-para>This work was supported in part by grant 28-2490 from The Dutch Prevention Fund to H.S., G.J.t.M., and C.H.C.M.B.</ce:note-para></ce:footnote></ce:title><ce:author-group><ce:author><ce:indexed-name>Tuerlings</ce:indexed-name><ce:given-name>Joep H.A.M</ce:given-name><ce:surname>Tuerlings</ce:surname><ce:suffix>M.D.</ce:suffix><ce:cross-ref refid="AFF1">A</ce:cross-ref><ce:cross-ref refid="FN2"><ce:sup>2</ce:sup></ce:cross-ref><ce:cross-ref refid="CORR1">*</ce:cross-ref><ce:cross-ref refid="FN2"><ce:sup>2</ce:sup></ce:cross-ref></ce:author><ce:author><ce:indexed-name>Mol</ce:indexed-name><ce:given-name>Bart</ce:given-name><ce:surname>Mol</ce:surname><ce:suffix>Ph.D.</ce:suffix><ce:cross-ref refid="AFF2">B</ce:cross-ref><ce:cross-ref refid="FN3"><ce:sup>3</ce:sup></ce:cross-ref></ce:author><ce:author><ce:indexed-name>Kremer</ce:indexed-name><ce:given-name>Jan A.M</ce:given-name><ce:surname>Kremer</ce:surname><ce:suffix>M.D., Ph.D.</ce:suffix><ce:cross-ref refid="AFF1">A</ce:cross-ref><ce:cross-ref refid="FN4"><ce:sup>4</ce:sup></ce:cross-ref></ce:author><ce:author><ce:indexed-name>Looman</ce:indexed-name><ce:given-name>Maaike</ce:given-name><ce:surname>Looman</ce:surname><ce:suffix>M.Sc.</ce:suffix><ce:cross-ref refid="AFF2">B</ce:cross-ref><ce:cross-ref refid="FN3"><ce:sup>3</ce:sup></ce:cross-ref></ce:author><ce:author><ce:indexed-name>Meuleman</ce:indexed-name><ce:given-name>Eric J.H</ce:given-name><ce:surname>Meuleman</ce:surname><ce:suffix>M.D., Ph.D.</ce:suffix><ce:cross-ref refid="AFF1">A</ce:cross-ref><ce:cross-ref refid="FN5"><ce:sup>5</ce:sup></ce:cross-ref><ce:cross-ref refid="FN5"><ce:sup>5</ce:sup></ce:cross-ref></ce:author><ce:author><ce:indexed-name>te Meerman</ce:indexed-name><ce:given-name>Gerard J</ce:given-name><ce:surname>te Meerman</ce:surname><ce:suffix>Ph.D.</ce:suffix><ce:cross-ref refid="AFF2">B</ce:cross-ref><ce:cross-ref refid="FN3"><ce:sup>3</ce:sup></ce:cross-ref></ce:author><ce:author><ce:indexed-name>Buys</ce:indexed-name><ce:given-name>Charles H.C.M</ce:given-name><ce:surname>Buys</ce:surname><ce:suffix>Ph.D.</ce:suffix><ce:cross-ref refid="AFF2">B</ce:cross-ref><ce:cross-ref refid="FN3"><ce:sup>3</ce:sup></ce:cross-ref></ce:author><ce:author><ce:indexed-name>Merkus</ce:indexed-name><ce:given-name>Hans M.W.M</ce:given-name><ce:surname>Merkus</ce:surname><ce:suffix>M.D., Ph.D.</ce:suffix><ce:cross-ref refid="AFF1">A</ce:cross-ref><ce:cross-ref refid="FN4"><ce:sup>4</ce:sup></ce:cross-ref></ce:author><ce:author><ce:indexed-name>Scheffer</ce:indexed-name><ce:given-name>Hans</ce:given-name><ce:surname>Scheffer</ce:surname><ce:suffix>Ph.D.</ce:suffix><ce:cross-ref refid="AFF2">B</ce:cross-ref><ce:cross-ref refid="FN3"><ce:sup>3</ce:sup></ce:cross-ref></ce:author><ce:affiliation id="AFF1"><ce:label>A</ce:label><ce:textfn>University Hospital Nijmegen, Nijmegen, The Netherlands,</ce:textfn></ce:affiliation><ce:affiliation id="AFF2"><ce:label>B</ce:label><ce:textfn>University of Groningen, Groningen, the Netherlands</ce:textfn></ce:affiliation><ce:correspondence id="CORR1"><ce:label>*</ce:label><ce:text>Joep H.A.M. Tuerlings, M.D., Department of Human Genetics, P.O. Box 9101, 6500HB Nijmegen, the Netherlands (FAX: 003124-3542151; e-mail: J.TUERLINGS@ANTRG.AZN.NL).</ce:text></ce:correspondence><ce:footnote id="FN2"><ce:label>2</ce:label><ce:note-para>Department of Human Genetics, University Hospital Nijmegen.</ce:note-para></ce:footnote><ce:footnote id="FN3"><ce:label>3</ce:label><ce:note-para>Department of Medical Genetics, University of Groningen.</ce:note-para></ce:footnote><ce:footnote id="FN4"><ce:label>4</ce:label><ce:note-para>Department of Gynecology, University Hospital Nijmegen.</ce:note-para></ce:footnote><ce:footnote id="FN5"><ce:label>5</ce:label><ce:note-para>Department of Urology, University Hospital Nijmegen.</ce:note-para></ce:footnote></ce:author-group><ce:date-received day="24" month="9" year="1997"></ce:date-received><ce:date-revised day="16" month="1" year="1998"></ce:date-revised><ce:date-accepted day="16" month="1" year="1998"></ce:date-accepted><ce:abstract><ce:section-title>Abstract</ce:section-title><ce:abstract-sec><ce:simple-para>Objective: To examine the frequency of anomalies of the vas deferens and the frequency of mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in male candidates for intracytoplasmic sperm injection (ICSI) who had severe oligoasthenoteratozoospermia.</ce:simple-para><ce:simple-para>Design: The clinical data for male candidates for ICSI were studied. The three most frequent cystic fibrosis (CF)-causing CFTR mutations in the Dutch population (ΔF508, A455E, and G542X) and the three most frequent CFTR mutations potentially causing congenital bilateral absence of the vas deferens (CBAVD) in the Dutch population (ΔF508, R117H, and IVS8-5T) were analyzed. Delta I507 is also detected by the ΔF508 test. Samples of DNA from patients identified as CFTR mutation carriers were subjected to denaturing gradient gel electrophoresis analysis with use of a two-dimensional electrophoretic technique.</ce:simple-para><ce:simple-para>Setting: University-based center for reproductive medicine and clinical genetics.</ce:simple-para><ce:simple-para>Patient(s): Male candidates for ICSI who had oligoasthenoteratozoospermia and no history of operative sterilization and refertilization. Males with a chromosomal aberration or a Y-chromosome microdeletion were excluded.</ce:simple-para><ce:simple-para>Intervention(s): Semen and blood samples were collected from the patients at their first visit to the clinic.</ce:simple-para><ce:simple-para>Main Outcome Measure(s): Frequency of anomalies of the vas deferens and frequency of mutations of the CFTR gene in male candidates for ICSI who had oligoasthenoteratozoospermia.</ce:simple-para><ce:simple-para>Result(s): None of the patients had abnormalities of the vas deferens at physical examination. In 4 of the 150 chromosomes (75 patients), a CFTR mutation was found, yielding a CFTR mutation frequency of 2.7% (95% confidence interval, 1.0–6.7%). None of the patients had two CFTR mutations.</ce:simple-para><ce:simple-para>Conclusion(s): The frequency of congenital abnormalities of the vas deferens in patients with oligoasthenoteratozoospermia is low. The frequencies of the CFTR mutations identified in this cohort did not differ significantly from the frequencies found in the normal Dutch population.</ce:simple-para></ce:abstract-sec></ce:abstract><ce:keywords><ce:section-title>Keywords</ce:section-title><ce:keyword><ce:text>CFTR mutations</ce:text></ce:keyword><ce:keyword><ce:text>cystic fibrosis</ce:text></ce:keyword><ce:keyword><ce:text>vas deferens abnormalities</ce:text></ce:keyword><ce:keyword><ce:text>infertility</ce:text></ce:keyword><ce:keyword><ce:text>OAT</ce:text></ce:keyword></ce:keywords></head></converted-article></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Mutation Frequency of Cystic Fibrosis Transmembrane Regulator is not Increased in Oligozoospermic Male Candidates For Intracytoplasmic Sperm Injection</title></titleInfo><titleInfo type="alternative" lang="en" contentType="CDATA"><title>Mutation Frequency of Cystic Fibrosis Transmembrane Regulator is not Increased in Oligozoospermic Male Candidates For Intracytoplasmic Sperm Injection</title></titleInfo><name type="personal"><namePart type="given">Joep H.A.M</namePart><namePart type="family">Tuerlings, M.D.</namePart><affiliation>University Hospital Nijmegen, Nijmegen, The Netherlands,</affiliation><description>Joep H.A.M. Tuerlings, M.D., Department of Human Genetics, P.O. Box 9101, 6500HB Nijmegen, the Netherlands (FAX: 003124-3542151; e-mail: J.TUERLINGS@ANTRG.AZN.NL).</description><description>Department of Human Genetics, University Hospital Nijmegen.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Bart</namePart><namePart type="family">Mol, Ph.D.</namePart><affiliation>University of Groningen, Groningen, the Netherlands</affiliation><description>Department of Medical Genetics, University of Groningen.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jan A.M</namePart><namePart type="family">Kremer, M.D., Ph.D.</namePart><affiliation>University Hospital Nijmegen, Nijmegen, The Netherlands,</affiliation><description>Department of Gynecology, University Hospital Nijmegen.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Maaike</namePart><namePart type="family">Looman, M.Sc.</namePart><affiliation>University of Groningen, Groningen, the Netherlands</affiliation><description>Department of Medical Genetics, University of Groningen.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Eric J.H</namePart><namePart type="family">Meuleman, M.D., Ph.D.</namePart><affiliation>University Hospital Nijmegen, Nijmegen, The Netherlands,</affiliation><description>Department of Urology, University Hospital Nijmegen.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Gerard J</namePart><namePart type="family">te Meerman, Ph.D.</namePart><affiliation>University of Groningen, Groningen, the Netherlands</affiliation><description>Department of Medical Genetics, University of Groningen.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Charles H.C.M</namePart><namePart type="family">Buys, Ph.D.</namePart><affiliation>University of Groningen, Groningen, the Netherlands</affiliation><description>Department of Medical Genetics, University of Groningen.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Hans M.W.M</namePart><namePart type="family">Merkus, M.D., Ph.D.</namePart><affiliation>University Hospital Nijmegen, Nijmegen, The Netherlands,</affiliation><description>Department of Gynecology, University Hospital Nijmegen.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Hans</namePart><namePart type="family">Scheffer, Ph.D.</namePart><affiliation>University of Groningen, Groningen, the Netherlands</affiliation><description>Department of Medical Genetics, University of Groningen.</description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="research-article" displayLabel="Full-length article"></genre><originInfo><publisher>ELSEVIER</publisher><dateIssued encoding="w3cdtf">1998</dateIssued><dateModified encoding="w3cdtf">1998-01-16</dateModified><copyrightDate encoding="w3cdtf">1998</copyrightDate></originInfo><language><languageTerm type="code" authority="iso639-2b">eng</languageTerm><languageTerm type="code" authority="rfc3066">en</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType></physicalDescription><abstract lang="en">Objective: To examine the frequency of anomalies of the vas deferens and the frequency of mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in male candidates for intracytoplasmic sperm injection (ICSI) who had severe oligoasthenoteratozoospermia. Design: The clinical data for male candidates for ICSI were studied. The three most frequent cystic fibrosis (CF)-causing CFTR mutations in the Dutch population (ΔF508, A455E, and G542X) and the three most frequent CFTR mutations potentially causing congenital bilateral absence of the vas deferens (CBAVD) in the Dutch population (ΔF508, R117H, and IVS8-5T) were analyzed. Delta I507 is also detected by the ΔF508 test. Samples of DNA from patients identified as CFTR mutation carriers were subjected to denaturing gradient gel electrophoresis analysis with use of a two-dimensional electrophoretic technique. Setting: University-based center for reproductive medicine and clinical genetics. Patient(s): Male candidates for ICSI who had oligoasthenoteratozoospermia and no history of operative sterilization and refertilization. Males with a chromosomal aberration or a Y-chromosome microdeletion were excluded. Intervention(s): Semen and blood samples were collected from the patients at their first visit to the clinic. Main Outcome Measure(s): Frequency of anomalies of the vas deferens and frequency of mutations of the CFTR gene in male candidates for ICSI who had oligoasthenoteratozoospermia. Result(s): None of the patients had abnormalities of the vas deferens at physical examination. In 4 of the 150 chromosomes (75 patients), a CFTR mutation was found, yielding a CFTR mutation frequency of 2.7% (95% confidence interval, 1.0–6.7%). None of the patients had two CFTR mutations. Conclusion(s): The frequency of congenital abnormalities of the vas deferens in patients with oligoasthenoteratozoospermia is low. The frequencies of the CFTR mutations identified in this cohort did not differ significantly from the frequencies found in the normal Dutch population.</abstract><note type="footnote">This work was supported in part by grant 28-2490 from The Dutch Prevention Fund to H.S., G.J.t.M., and C.H.C.M.B.</note><note type="content">Section title: Andrology/Urology</note><note type="content">Table 1: Testis Volume and Mean Indices of the Semen Analysis in the Men Without and the Four Men With a Cystic Fibrosis Transmembrane Regulator Gene Mutation.</note><note type="content">Table 2: Frequencies of Mutations in the Cystic Fibrosis Transmembrane Regulator in the General Dutch Population, in the Investigated Male Candidates for ICSI Who Had Oligoasthenoteratozoospermia, in Patients With Congenital Bilateral Absence of the Vas Deferens, and in Patients With Cystic Fibrosis.</note><subject lang="en"><genre>Keywords</genre><topic>CFTR mutations</topic><topic>cystic fibrosis</topic><topic>vas deferens abnormalities</topic><topic>infertility</topic><topic>OAT</topic></subject><relatedItem type="host"><titleInfo><title>Fertility and Sterility</title></titleInfo><titleInfo type="abbreviated"><title>FNS</title></titleInfo><genre type="journal">journal</genre><originInfo><dateIssued encoding="w3cdtf">199805</dateIssued></originInfo><identifier type="ISSN">0015-0282</identifier><identifier type="PII">S0015-0282(00)X0018-0</identifier><part><date>199805</date><detail type="volume"><number>69</number><caption>vol.</caption></detail><detail type="issue"><number>5</number><caption>no.</caption></detail><extent unit="issue pages"><start>799</start><end>988</end></extent><extent unit="pages"><start>899</start><end>903</end></extent></part></relatedItem><identifier type="istex">89C098BC772DD6D580331502021AA809D573A619</identifier><identifier type="DOI">10.1016/S0015-0282(98)00050-8</identifier><identifier type="PII">S0015-0282(98)00050-8</identifier><accessCondition type="use and reproduction" contentType="copyright">©1998 Elsevier Science Inc.</accessCondition><recordInfo><recordContentSource>ELSEVIER</recordContentSource><recordOrigin>Elsevier Science Inc., ©1998</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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