Y chromosome structural variation in infertile men detected by targeted next-generation sequencing
Purpose To provide a validated method to identify copy number variation (CNV) in regions of the Y chromosome of infertile men by next-generation sequencing (NGS). Methods Semen analysis was used to determine the quality of semen and diagnose infertility. Deletion of the azoospermia factor (AZF) regi...
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| Veröffentlicht in: | Journal of assisted reproduction and genetics 2021-04, Vol.38 (4), p.941-948 |
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| container_title | Journal of assisted reproduction and genetics |
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| creator | Liu, Xiangyin Zhang, Han Zhang, Xinyue Zhang, Hongguo Jiang, Yuting Liu, Ruizhi Fei, Jia Wang, Ying Yu, Yang |
| description | Purpose
To provide a validated method to identify copy number variation (CNV) in regions of the Y chromosome of infertile men by next-generation sequencing (NGS).
Methods
Semen analysis was used to determine the quality of semen and diagnose infertility. Deletion of the azoospermia factor (AZF) region in the Y chromosome was detected by a routine sequence-tagged-site PCR (STS-PCR) method. We then used the NGS method to detect CNV in the AZF region, including deletions and duplications.
Results
A total of 326 samples from male infertility patients, family members, and sperm donors were studied between January 2011 and May 2017. AZF microdeletions were detected in 120 patients by STS-PCR, and these results were consistent with the results from NGS. In addition, of the 160 patients and male family members who had no microdeletions detected by STS-PCR, 51 cases were found to exhibit Y chromosome structural variations by the NGS method (31.88%, 51/160). No microdeletions were found in 46 donors by STS-PCR, but the NGS method revealed 11 of these donors (23.91%, 11/46) carried structural variations, which were mainly in the AZFc region, including partial deletions and duplications.
Conclusion
The established NGS method can replace the conventional STS-PCR method to detect Y chromosome microdeletions. The NGS method can detect CNV, such as partial deletion or duplication, and provide details of the abnormal range and size of variations. |
| doi_str_mv | 10.1007/s10815-020-02031-x |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8079584</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2518857307</sourcerecordid><originalsourceid>FETCH-LOGICAL-c441t-6fdc95ccddad2eac719eb5227d2b5a2a040d91e5b2dbd24f9091d5855d0e39153</originalsourceid><addsrcrecordid>eNp9UU1P3TAQtBAV33-AQxWJc2Btx8S-IFWIj0pIvbSHnizH3oSgFxtsBz3-PX4N0PaCZMsr7czsrIeQYwqnFKA9SxQkFTUw2FxO6_UW2aOi5XXLOWyXGoSsoTmXu2Q_pQcAUJLxHbLLeSMaBbBHut-VvY9hCilMWKUcZ5vnaFbVs4mjyWPw1bg5PcY8rrCa0FcOM9qMrupeqmzigJva4zrXA3qMCyvh04zejn44JF96s0p49PYekF_XVz8vb-u7HzffL7_d1bZpaK7Pe2eVsNY54xga21KFnWCsdawThhlowCmKomOuc6zpFSjqhBTCAXJFBT8gF4vu49xN6Cz6XBbRj3GcTHzRwYz6_44f7_UQnrWEVgnZFIGTN4EYivmU9UOYoy-eNRNUyvKz0BYUW1A2hpQi9h8TKOhNLnrJRZdM9J9c9LqQvv7r7YPyHkQB8AWQSssPGP_O_kT2FffJnMg</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2518857307</pqid></control><display><type>article</type><title>Y chromosome structural variation in infertile men detected by targeted next-generation sequencing</title><source>MEDLINE</source><source>Springer Nature - Complete Springer Journals</source><source>EZB-FREE-00999 freely available EZB journals</source><source>PubMed Central</source><creator>Liu, Xiangyin ; Zhang, Han ; Zhang, Xinyue ; Zhang, Hongguo ; Jiang, Yuting ; Liu, Ruizhi ; Fei, Jia ; Wang, Ying ; Yu, Yang</creator><creatorcontrib>Liu, Xiangyin ; Zhang, Han ; Zhang, Xinyue ; Zhang, Hongguo ; Jiang, Yuting ; Liu, Ruizhi ; Fei, Jia ; Wang, Ying ; Yu, Yang</creatorcontrib><description>Purpose
To provide a validated method to identify copy number variation (CNV) in regions of the Y chromosome of infertile men by next-generation sequencing (NGS).
Methods
Semen analysis was used to determine the quality of semen and diagnose infertility. Deletion of the azoospermia factor (AZF) region in the Y chromosome was detected by a routine sequence-tagged-site PCR (STS-PCR) method. We then used the NGS method to detect CNV in the AZF region, including deletions and duplications.
Results
A total of 326 samples from male infertility patients, family members, and sperm donors were studied between January 2011 and May 2017. AZF microdeletions were detected in 120 patients by STS-PCR, and these results were consistent with the results from NGS. In addition, of the 160 patients and male family members who had no microdeletions detected by STS-PCR, 51 cases were found to exhibit Y chromosome structural variations by the NGS method (31.88%, 51/160). No microdeletions were found in 46 donors by STS-PCR, but the NGS method revealed 11 of these donors (23.91%, 11/46) carried structural variations, which were mainly in the AZFc region, including partial deletions and duplications.
Conclusion
The established NGS method can replace the conventional STS-PCR method to detect Y chromosome microdeletions. The NGS method can detect CNV, such as partial deletion or duplication, and provide details of the abnormal range and size of variations.</description><identifier>ISSN: 1058-0468</identifier><identifier>EISSN: 1573-7330</identifier><identifier>DOI: 10.1007/s10815-020-02031-x</identifier><identifier>PMID: 33454900</identifier><language>eng</language><publisher>New York: Springer US</publisher><subject>Azoospermia - diagnosis ; Azoospermia - genetics ; Azoospermia - pathology ; Chromosome Deletion ; Chromosomes, Human, Y - genetics ; Copy number ; DNA Copy Number Variations - genetics ; Genetics ; Gynecology ; High-Throughput Nucleotide Sequencing ; Human Genetics ; Humans ; Infertility ; Infertility, Male - diagnosis ; Infertility, Male - genetics ; Infertility, Male - pathology ; Male ; Medicine ; Medicine & Public Health ; Next-generation sequencing ; Oligospermia - diagnosis ; Oligospermia - genetics ; Oligospermia - pathology ; Reproductive Medicine ; Semen ; Semen Analysis - methods ; Sex Chromosome Aberrations ; Sex Chromosome Disorders of Sex Development - diagnosis ; Sex Chromosome Disorders of Sex Development - genetics ; Sex Chromosome Disorders of Sex Development - pathology ; Variation ; Y chromosomes</subject><ispartof>Journal of assisted reproduction and genetics, 2021-04, Vol.38 (4), p.941-948</ispartof><rights>The Author(s), under exclusive licence to Springer Science+Business Media, LLC part of Springer Nature 2021</rights><rights>The Author(s), under exclusive licence to Springer Science+Business Media, LLC part of Springer Nature 2021.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c441t-6fdc95ccddad2eac719eb5227d2b5a2a040d91e5b2dbd24f9091d5855d0e39153</citedby><cites>FETCH-LOGICAL-c441t-6fdc95ccddad2eac719eb5227d2b5a2a040d91e5b2dbd24f9091d5855d0e39153</cites><orcidid>0000-0002-8345-2584</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8079584/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8079584/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,723,776,780,881,27901,27902,41464,42533,51294,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/33454900$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Liu, Xiangyin</creatorcontrib><creatorcontrib>Zhang, Han</creatorcontrib><creatorcontrib>Zhang, Xinyue</creatorcontrib><creatorcontrib>Zhang, Hongguo</creatorcontrib><creatorcontrib>Jiang, Yuting</creatorcontrib><creatorcontrib>Liu, Ruizhi</creatorcontrib><creatorcontrib>Fei, Jia</creatorcontrib><creatorcontrib>Wang, Ying</creatorcontrib><creatorcontrib>Yu, Yang</creatorcontrib><title>Y chromosome structural variation in infertile men detected by targeted next-generation sequencing</title><title>Journal of assisted reproduction and genetics</title><addtitle>J Assist Reprod Genet</addtitle><addtitle>J Assist Reprod Genet</addtitle><description>Purpose
To provide a validated method to identify copy number variation (CNV) in regions of the Y chromosome of infertile men by next-generation sequencing (NGS).
Methods
Semen analysis was used to determine the quality of semen and diagnose infertility. Deletion of the azoospermia factor (AZF) region in the Y chromosome was detected by a routine sequence-tagged-site PCR (STS-PCR) method. We then used the NGS method to detect CNV in the AZF region, including deletions and duplications.
Results
A total of 326 samples from male infertility patients, family members, and sperm donors were studied between January 2011 and May 2017. AZF microdeletions were detected in 120 patients by STS-PCR, and these results were consistent with the results from NGS. In addition, of the 160 patients and male family members who had no microdeletions detected by STS-PCR, 51 cases were found to exhibit Y chromosome structural variations by the NGS method (31.88%, 51/160). No microdeletions were found in 46 donors by STS-PCR, but the NGS method revealed 11 of these donors (23.91%, 11/46) carried structural variations, which were mainly in the AZFc region, including partial deletions and duplications.
Conclusion
The established NGS method can replace the conventional STS-PCR method to detect Y chromosome microdeletions. The NGS method can detect CNV, such as partial deletion or duplication, and provide details of the abnormal range and size of variations.</description><subject>Azoospermia - diagnosis</subject><subject>Azoospermia - genetics</subject><subject>Azoospermia - pathology</subject><subject>Chromosome Deletion</subject><subject>Chromosomes, Human, Y - genetics</subject><subject>Copy number</subject><subject>DNA Copy Number Variations - genetics</subject><subject>Genetics</subject><subject>Gynecology</subject><subject>High-Throughput Nucleotide Sequencing</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Infertility</subject><subject>Infertility, Male - diagnosis</subject><subject>Infertility, Male - genetics</subject><subject>Infertility, Male - pathology</subject><subject>Male</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Next-generation sequencing</subject><subject>Oligospermia - diagnosis</subject><subject>Oligospermia - genetics</subject><subject>Oligospermia - pathology</subject><subject>Reproductive Medicine</subject><subject>Semen</subject><subject>Semen Analysis - methods</subject><subject>Sex Chromosome Aberrations</subject><subject>Sex Chromosome Disorders of Sex Development - diagnosis</subject><subject>Sex Chromosome Disorders of Sex Development - genetics</subject><subject>Sex Chromosome Disorders of Sex Development - pathology</subject><subject>Variation</subject><subject>Y chromosomes</subject><issn>1058-0468</issn><issn>1573-7330</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNp9UU1P3TAQtBAV33-AQxWJc2Btx8S-IFWIj0pIvbSHnizH3oSgFxtsBz3-PX4N0PaCZMsr7czsrIeQYwqnFKA9SxQkFTUw2FxO6_UW2aOi5XXLOWyXGoSsoTmXu2Q_pQcAUJLxHbLLeSMaBbBHut-VvY9hCilMWKUcZ5vnaFbVs4mjyWPw1bg5PcY8rrCa0FcOM9qMrupeqmzigJva4zrXA3qMCyvh04zejn44JF96s0p49PYekF_XVz8vb-u7HzffL7_d1bZpaK7Pe2eVsNY54xga21KFnWCsdawThhlowCmKomOuc6zpFSjqhBTCAXJFBT8gF4vu49xN6Cz6XBbRj3GcTHzRwYz6_44f7_UQnrWEVgnZFIGTN4EYivmU9UOYoy-eNRNUyvKz0BYUW1A2hpQi9h8TKOhNLnrJRZdM9J9c9LqQvv7r7YPyHkQB8AWQSssPGP_O_kT2FffJnMg</recordid><startdate>20210401</startdate><enddate>20210401</enddate><creator>Liu, Xiangyin</creator><creator>Zhang, Han</creator><creator>Zhang, Xinyue</creator><creator>Zhang, Hongguo</creator><creator>Jiang, Yuting</creator><creator>Liu, Ruizhi</creator><creator>Fei, Jia</creator><creator>Wang, Ying</creator><creator>Yu, Yang</creator><general>Springer US</general><general>Springer Nature B.V</general><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>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0002-8345-2584</orcidid></search><sort><creationdate>20210401</creationdate><title>Y chromosome structural variation in infertile men detected by targeted next-generation sequencing</title><author>Liu, Xiangyin ; Zhang, Han ; Zhang, Xinyue ; Zhang, Hongguo ; Jiang, Yuting ; Liu, Ruizhi ; Fei, Jia ; Wang, Ying ; Yu, Yang</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c441t-6fdc95ccddad2eac719eb5227d2b5a2a040d91e5b2dbd24f9091d5855d0e39153</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Azoospermia - diagnosis</topic><topic>Azoospermia - genetics</topic><topic>Azoospermia - pathology</topic><topic>Chromosome Deletion</topic><topic>Chromosomes, Human, Y - genetics</topic><topic>Copy number</topic><topic>DNA Copy Number Variations - genetics</topic><topic>Genetics</topic><topic>Gynecology</topic><topic>High-Throughput Nucleotide Sequencing</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Infertility</topic><topic>Infertility, Male - diagnosis</topic><topic>Infertility, Male - genetics</topic><topic>Infertility, Male - pathology</topic><topic>Male</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Next-generation sequencing</topic><topic>Oligospermia - diagnosis</topic><topic>Oligospermia - genetics</topic><topic>Oligospermia - pathology</topic><topic>Reproductive Medicine</topic><topic>Semen</topic><topic>Semen Analysis - methods</topic><topic>Sex Chromosome Aberrations</topic><topic>Sex Chromosome Disorders of Sex Development - diagnosis</topic><topic>Sex Chromosome Disorders of Sex Development - genetics</topic><topic>Sex Chromosome Disorders of Sex Development - pathology</topic><topic>Variation</topic><topic>Y chromosomes</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Liu, Xiangyin</creatorcontrib><creatorcontrib>Zhang, Han</creatorcontrib><creatorcontrib>Zhang, Xinyue</creatorcontrib><creatorcontrib>Zhang, Hongguo</creatorcontrib><creatorcontrib>Jiang, Yuting</creatorcontrib><creatorcontrib>Liu, Ruizhi</creatorcontrib><creatorcontrib>Fei, Jia</creatorcontrib><creatorcontrib>Wang, Ying</creatorcontrib><creatorcontrib>Yu, Yang</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Genetics Abstracts</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of assisted reproduction and genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Liu, Xiangyin</au><au>Zhang, Han</au><au>Zhang, Xinyue</au><au>Zhang, Hongguo</au><au>Jiang, Yuting</au><au>Liu, Ruizhi</au><au>Fei, Jia</au><au>Wang, Ying</au><au>Yu, Yang</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Y chromosome structural variation in infertile men detected by targeted next-generation sequencing</atitle><jtitle>Journal of assisted reproduction and genetics</jtitle><stitle>J Assist Reprod Genet</stitle><addtitle>J Assist Reprod Genet</addtitle><date>2021-04-01</date><risdate>2021</risdate><volume>38</volume><issue>4</issue><spage>941</spage><epage>948</epage><pages>941-948</pages><issn>1058-0468</issn><eissn>1573-7330</eissn><abstract>Purpose
To provide a validated method to identify copy number variation (CNV) in regions of the Y chromosome of infertile men by next-generation sequencing (NGS).
Methods
Semen analysis was used to determine the quality of semen and diagnose infertility. Deletion of the azoospermia factor (AZF) region in the Y chromosome was detected by a routine sequence-tagged-site PCR (STS-PCR) method. We then used the NGS method to detect CNV in the AZF region, including deletions and duplications.
Results
A total of 326 samples from male infertility patients, family members, and sperm donors were studied between January 2011 and May 2017. AZF microdeletions were detected in 120 patients by STS-PCR, and these results were consistent with the results from NGS. In addition, of the 160 patients and male family members who had no microdeletions detected by STS-PCR, 51 cases were found to exhibit Y chromosome structural variations by the NGS method (31.88%, 51/160). No microdeletions were found in 46 donors by STS-PCR, but the NGS method revealed 11 of these donors (23.91%, 11/46) carried structural variations, which were mainly in the AZFc region, including partial deletions and duplications.
Conclusion
The established NGS method can replace the conventional STS-PCR method to detect Y chromosome microdeletions. The NGS method can detect CNV, such as partial deletion or duplication, and provide details of the abnormal range and size of variations.</abstract><cop>New York</cop><pub>Springer US</pub><pmid>33454900</pmid><doi>10.1007/s10815-020-02031-x</doi><tpages>8</tpages><orcidid>https://orcid.org/0000-0002-8345-2584</orcidid><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; Springer Nature - Complete Springer Journals; EZB-FREE-00999 freely available EZB journals; PubMed Central |
| subjects | Azoospermia - diagnosis Azoospermia - genetics Azoospermia - pathology Chromosome Deletion Chromosomes, Human, Y - genetics Copy number DNA Copy Number Variations - genetics Genetics Gynecology High-Throughput Nucleotide Sequencing Human Genetics Humans Infertility Infertility, Male - diagnosis Infertility, Male - genetics Infertility, Male - pathology Male Medicine Medicine & Public Health Next-generation sequencing Oligospermia - diagnosis Oligospermia - genetics Oligospermia - pathology Reproductive Medicine Semen Semen Analysis - methods Sex Chromosome Aberrations Sex Chromosome Disorders of Sex Development - diagnosis Sex Chromosome Disorders of Sex Development - genetics Sex Chromosome Disorders of Sex Development - pathology Variation Y chromosomes |
| title | Y chromosome structural variation in infertile men detected by targeted next-generation sequencing |
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