DYZ1 copy number variation, Y chromosome polymorphism and early recurrent spontaneous abortion/early embryo growth arrest
Abstract Objectives To find the association between recurrent spontaneous abortion (RSA)/early embryo growth arrest and Y chromosome polymorphism. Study design Peripheral blood samples of the male patients of big Y chromosome, small Y chromosome and other male patients whose partners suffered from u...
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| Veröffentlicht in: | European journal of obstetrics & gynecology and reproductive biology 2011-12, Vol.159 (2), p.371-374 |
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| container_title | European journal of obstetrics & gynecology and reproductive biology |
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| creator | Yan, Junhao Fan, Lingling Zhao, Yueran You, Li Wang, Laicheng Zhao, Han Li, Yuan Chen, Zi-Jiang |
| description | Abstract Objectives To find the association between recurrent spontaneous abortion (RSA)/early embryo growth arrest and Y chromosome polymorphism. Study design Peripheral blood samples of the male patients of big Y chromosome, small Y chromosome and other male patients whose partners suffered from unexplained RSA/early embryo growth arrest were collected. PCR and real-time fluorescent quantitative PCR were used to test the deletion and the copy number variation of DYZ1 region in Y chromosome of the patients. A total of 79 big Y chromosome patients (48 of whose partners suffered from RSA or early embryo growth arrest), 7 small Y chromosome patients, 106 other male patients whose partners had suffered from unexplained RSA or early embryo growth arrest, and 100 normal male controls were enrolled. Results There was no fraction deletion of DYZ1 detected both in big Y patients and in normal men. Of RSA patients, 1 case showed deletion of 266 bp from the gene locus 25–290 bp, and 2 cases showed deletion of 773 bp from 1347 to 2119 bp. Of only 7 small Y chromosome patients, 2 cases showed deletion of 266 bp from 25 to 290 bp, and 4 cases showed deletion of 773 bp from 1347 to 2119 bp and 275 bp from 3128 to 3420 bp. The mean of DYZ1 copies was 3900 in normal control men; the mean in big Y patients was 5571, in RSA patients was 2655, and in small Y patients was 1059. All of the others were significantly different ( P < 0.01) compared with normal control men, which meant that DYZ1 copy number in normal control men was less than that of big Y chromosome patients, and was more than that of unexplained early RSA patients and small Y patients. Conclusions The integrity and copy number variation of DYZ1 are closely related to the Y chromosome length under microscope. The cause of RSA/early embryo growth arrest in some couples may be the increase (big Y patients) or decrease of DYZ1 copy number in the husbands’ Y chromosome. |
| doi_str_mv | 10.1016/j.ejogrb.2011.07.033 |
| format | Article |
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Study design Peripheral blood samples of the male patients of big Y chromosome, small Y chromosome and other male patients whose partners suffered from unexplained RSA/early embryo growth arrest were collected. PCR and real-time fluorescent quantitative PCR were used to test the deletion and the copy number variation of DYZ1 region in Y chromosome of the patients. A total of 79 big Y chromosome patients (48 of whose partners suffered from RSA or early embryo growth arrest), 7 small Y chromosome patients, 106 other male patients whose partners had suffered from unexplained RSA or early embryo growth arrest, and 100 normal male controls were enrolled. Results There was no fraction deletion of DYZ1 detected both in big Y patients and in normal men. Of RSA patients, 1 case showed deletion of 266 bp from the gene locus 25–290 bp, and 2 cases showed deletion of 773 bp from 1347 to 2119 bp. Of only 7 small Y chromosome patients, 2 cases showed deletion of 266 bp from 25 to 290 bp, and 4 cases showed deletion of 773 bp from 1347 to 2119 bp and 275 bp from 3128 to 3420 bp. The mean of DYZ1 copies was 3900 in normal control men; the mean in big Y patients was 5571, in RSA patients was 2655, and in small Y patients was 1059. All of the others were significantly different ( P < 0.01) compared with normal control men, which meant that DYZ1 copy number in normal control men was less than that of big Y chromosome patients, and was more than that of unexplained early RSA patients and small Y patients. Conclusions The integrity and copy number variation of DYZ1 are closely related to the Y chromosome length under microscope. The cause of RSA/early embryo growth arrest in some couples may be the increase (big Y patients) or decrease of DYZ1 copy number in the husbands’ Y chromosome.</description><identifier>ISSN: 0301-2115</identifier><identifier>EISSN: 1872-7654</identifier><identifier>DOI: 10.1016/j.ejogrb.2011.07.033</identifier><identifier>PMID: 21831514</identifier><identifier>CODEN: EOGRAL</identifier><language>eng</language><publisher>Shannon: Elsevier Ireland Ltd</publisher><subject>Abortion, Habitual - genetics ; Adult ; Biological and medical sciences ; Case-Control Studies ; China ; Chromosome Deletion ; Chromosomes, Human, Y - genetics ; Copy number variation (CNV) ; Diseases of mother, fetus and pregnancy ; DNA Copy Number Variations ; DYZ1 region ; Early embryo growth arrest ; Embryo Loss - genetics ; Embryonic Development ; Female ; Gynecology. Andrology. Obstetrics ; Humans ; Infertility, Male - blood ; Infertility, Male - genetics ; Lymphocytes - metabolism ; Male ; Medical sciences ; Obstetrics and Gynecology ; Polymorphism, Genetic ; Pregnancy ; Pregnancy. Fetus. Placenta ; Recurrent spontaneous abortion (RSA) ; Repetitive Sequences, Nucleic Acid ; Sex Chromosome Aberrations ; Sexual Partners ; Y chromosome</subject><ispartof>European journal of obstetrics & gynecology and reproductive biology, 2011-12, Vol.159 (2), p.371-374</ispartof><rights>Elsevier Ireland Ltd</rights><rights>2011 Elsevier Ireland Ltd</rights><rights>2015 INIST-CNRS</rights><rights>Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c446t-8e61157f8e1b1f05ad05fd1896f24887f660676a50ffde9416c6c1e68f18080a3</citedby><cites>FETCH-LOGICAL-c446t-8e61157f8e1b1f05ad05fd1896f24887f660676a50ffde9416c6c1e68f18080a3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0301211511004544$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=25254058$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21831514$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Yan, Junhao</creatorcontrib><creatorcontrib>Fan, Lingling</creatorcontrib><creatorcontrib>Zhao, Yueran</creatorcontrib><creatorcontrib>You, Li</creatorcontrib><creatorcontrib>Wang, Laicheng</creatorcontrib><creatorcontrib>Zhao, Han</creatorcontrib><creatorcontrib>Li, Yuan</creatorcontrib><creatorcontrib>Chen, Zi-Jiang</creatorcontrib><title>DYZ1 copy number variation, Y chromosome polymorphism and early recurrent spontaneous abortion/early embryo growth arrest</title><title>European journal of obstetrics & gynecology and reproductive biology</title><addtitle>Eur J Obstet Gynecol Reprod Biol</addtitle><description>Abstract Objectives To find the association between recurrent spontaneous abortion (RSA)/early embryo growth arrest and Y chromosome polymorphism. Study design Peripheral blood samples of the male patients of big Y chromosome, small Y chromosome and other male patients whose partners suffered from unexplained RSA/early embryo growth arrest were collected. PCR and real-time fluorescent quantitative PCR were used to test the deletion and the copy number variation of DYZ1 region in Y chromosome of the patients. A total of 79 big Y chromosome patients (48 of whose partners suffered from RSA or early embryo growth arrest), 7 small Y chromosome patients, 106 other male patients whose partners had suffered from unexplained RSA or early embryo growth arrest, and 100 normal male controls were enrolled. Results There was no fraction deletion of DYZ1 detected both in big Y patients and in normal men. Of RSA patients, 1 case showed deletion of 266 bp from the gene locus 25–290 bp, and 2 cases showed deletion of 773 bp from 1347 to 2119 bp. Of only 7 small Y chromosome patients, 2 cases showed deletion of 266 bp from 25 to 290 bp, and 4 cases showed deletion of 773 bp from 1347 to 2119 bp and 275 bp from 3128 to 3420 bp. The mean of DYZ1 copies was 3900 in normal control men; the mean in big Y patients was 5571, in RSA patients was 2655, and in small Y patients was 1059. All of the others were significantly different ( P < 0.01) compared with normal control men, which meant that DYZ1 copy number in normal control men was less than that of big Y chromosome patients, and was more than that of unexplained early RSA patients and small Y patients. Conclusions The integrity and copy number variation of DYZ1 are closely related to the Y chromosome length under microscope. The cause of RSA/early embryo growth arrest in some couples may be the increase (big Y patients) or decrease of DYZ1 copy number in the husbands’ Y chromosome.</description><subject>Abortion, Habitual - genetics</subject><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Case-Control Studies</subject><subject>China</subject><subject>Chromosome Deletion</subject><subject>Chromosomes, Human, Y - genetics</subject><subject>Copy number variation (CNV)</subject><subject>Diseases of mother, fetus and pregnancy</subject><subject>DNA Copy Number Variations</subject><subject>DYZ1 region</subject><subject>Early embryo growth arrest</subject><subject>Embryo Loss - genetics</subject><subject>Embryonic Development</subject><subject>Female</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>Infertility, Male - blood</subject><subject>Infertility, Male - genetics</subject><subject>Lymphocytes - metabolism</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Obstetrics and Gynecology</subject><subject>Polymorphism, Genetic</subject><subject>Pregnancy</subject><subject>Pregnancy. Fetus. Placenta</subject><subject>Recurrent spontaneous abortion (RSA)</subject><subject>Repetitive Sequences, Nucleic Acid</subject><subject>Sex Chromosome Aberrations</subject><subject>Sexual Partners</subject><subject>Y chromosome</subject><issn>0301-2115</issn><issn>1872-7654</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkk1v1DAQhiMEoqXwDxDyBXFhtzOJ7XgvSKh8SpU4AIdysRxn3PWSxMFOivLv8SoLSFzwxZdn3pl5NEXxFGGLgPLysKVDuI3NtgTELdRbqKp7xTmqutzUUvD7xTlUgJsSUZwVj1I6QH5VtXtYnJWoKhTIz4vlzc03ZDaMCxvmvqHI7kz0ZvJheMlumN3H0IcUemJj6JY-xHHvU8_M0DIysVtYJDvHSMPE0hiGyQwU5sRME-Ix43KFqG_iEthtDD-nPTOZT9Pj4oEzXaInp_-i-Pru7ZerD5vrT-8_Xr2-3ljO5bRRJPMCtVOEDToQpgXhWlQ76UquVO2kBFlLI8C5lnYcpZUWSSqHChSY6qJ4seaOMfyYc2Pd-2Sp69ZR9Q6kEFLhLpN8JW0MKUVyeoy-N3HRCProXB_06lwfnWuodfaZy56dGsxNT-2fot-SM_D8BJhkTeeiGaxPfzlRCg5CZe7VylHWcecp6mQ9DZZany1Pug3-f5P8G2A7P_jc8zstlA5hjkNWrVGnUoP-fLyP43kgAnDBefULwue4DA</recordid><startdate>20111201</startdate><enddate>20111201</enddate><creator>Yan, Junhao</creator><creator>Fan, Lingling</creator><creator>Zhao, Yueran</creator><creator>You, Li</creator><creator>Wang, Laicheng</creator><creator>Zhao, Han</creator><creator>Li, Yuan</creator><creator>Chen, Zi-Jiang</creator><general>Elsevier Ireland Ltd</general><general>Elsevier</general><scope>IQODW</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>7X8</scope></search><sort><creationdate>20111201</creationdate><title>DYZ1 copy number variation, Y chromosome polymorphism and early recurrent spontaneous abortion/early embryo growth arrest</title><author>Yan, Junhao ; Fan, Lingling ; Zhao, Yueran ; You, Li ; Wang, Laicheng ; Zhao, Han ; Li, Yuan ; Chen, Zi-Jiang</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c446t-8e61157f8e1b1f05ad05fd1896f24887f660676a50ffde9416c6c1e68f18080a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Abortion, Habitual - genetics</topic><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Case-Control Studies</topic><topic>China</topic><topic>Chromosome Deletion</topic><topic>Chromosomes, Human, Y - genetics</topic><topic>Copy number variation (CNV)</topic><topic>Diseases of mother, fetus and pregnancy</topic><topic>DNA Copy Number Variations</topic><topic>DYZ1 region</topic><topic>Early embryo growth arrest</topic><topic>Embryo Loss - genetics</topic><topic>Embryonic Development</topic><topic>Female</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>Infertility, Male - blood</topic><topic>Infertility, Male - genetics</topic><topic>Lymphocytes - metabolism</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Obstetrics and Gynecology</topic><topic>Polymorphism, Genetic</topic><topic>Pregnancy</topic><topic>Pregnancy. Fetus. Placenta</topic><topic>Recurrent spontaneous abortion (RSA)</topic><topic>Repetitive Sequences, Nucleic Acid</topic><topic>Sex Chromosome Aberrations</topic><topic>Sexual Partners</topic><topic>Y chromosome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Yan, Junhao</creatorcontrib><creatorcontrib>Fan, Lingling</creatorcontrib><creatorcontrib>Zhao, Yueran</creatorcontrib><creatorcontrib>You, Li</creatorcontrib><creatorcontrib>Wang, Laicheng</creatorcontrib><creatorcontrib>Zhao, Han</creatorcontrib><creatorcontrib>Li, Yuan</creatorcontrib><creatorcontrib>Chen, Zi-Jiang</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>European journal of obstetrics & gynecology and reproductive biology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Yan, Junhao</au><au>Fan, Lingling</au><au>Zhao, Yueran</au><au>You, Li</au><au>Wang, Laicheng</au><au>Zhao, Han</au><au>Li, Yuan</au><au>Chen, Zi-Jiang</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>DYZ1 copy number variation, Y chromosome polymorphism and early recurrent spontaneous abortion/early embryo growth arrest</atitle><jtitle>European journal of obstetrics & gynecology and reproductive biology</jtitle><addtitle>Eur J Obstet Gynecol Reprod Biol</addtitle><date>2011-12-01</date><risdate>2011</risdate><volume>159</volume><issue>2</issue><spage>371</spage><epage>374</epage><pages>371-374</pages><issn>0301-2115</issn><eissn>1872-7654</eissn><coden>EOGRAL</coden><abstract>Abstract Objectives To find the association between recurrent spontaneous abortion (RSA)/early embryo growth arrest and Y chromosome polymorphism. Study design Peripheral blood samples of the male patients of big Y chromosome, small Y chromosome and other male patients whose partners suffered from unexplained RSA/early embryo growth arrest were collected. PCR and real-time fluorescent quantitative PCR were used to test the deletion and the copy number variation of DYZ1 region in Y chromosome of the patients. A total of 79 big Y chromosome patients (48 of whose partners suffered from RSA or early embryo growth arrest), 7 small Y chromosome patients, 106 other male patients whose partners had suffered from unexplained RSA or early embryo growth arrest, and 100 normal male controls were enrolled. Results There was no fraction deletion of DYZ1 detected both in big Y patients and in normal men. Of RSA patients, 1 case showed deletion of 266 bp from the gene locus 25–290 bp, and 2 cases showed deletion of 773 bp from 1347 to 2119 bp. Of only 7 small Y chromosome patients, 2 cases showed deletion of 266 bp from 25 to 290 bp, and 4 cases showed deletion of 773 bp from 1347 to 2119 bp and 275 bp from 3128 to 3420 bp. The mean of DYZ1 copies was 3900 in normal control men; the mean in big Y patients was 5571, in RSA patients was 2655, and in small Y patients was 1059. All of the others were significantly different ( P < 0.01) compared with normal control men, which meant that DYZ1 copy number in normal control men was less than that of big Y chromosome patients, and was more than that of unexplained early RSA patients and small Y patients. Conclusions The integrity and copy number variation of DYZ1 are closely related to the Y chromosome length under microscope. The cause of RSA/early embryo growth arrest in some couples may be the increase (big Y patients) or decrease of DYZ1 copy number in the husbands’ Y chromosome.</abstract><cop>Shannon</cop><pub>Elsevier Ireland Ltd</pub><pmid>21831514</pmid><doi>10.1016/j.ejogrb.2011.07.033</doi><tpages>4</tpages></addata></record> |
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| subjects | Abortion, Habitual - genetics Adult Biological and medical sciences Case-Control Studies China Chromosome Deletion Chromosomes, Human, Y - genetics Copy number variation (CNV) Diseases of mother, fetus and pregnancy DNA Copy Number Variations DYZ1 region Early embryo growth arrest Embryo Loss - genetics Embryonic Development Female Gynecology. Andrology. Obstetrics Humans Infertility, Male - blood Infertility, Male - genetics Lymphocytes - metabolism Male Medical sciences Obstetrics and Gynecology Polymorphism, Genetic Pregnancy Pregnancy. Fetus. Placenta Recurrent spontaneous abortion (RSA) Repetitive Sequences, Nucleic Acid Sex Chromosome Aberrations Sexual Partners Y chromosome |
| title | DYZ1 copy number variation, Y chromosome polymorphism and early recurrent spontaneous abortion/early embryo growth arrest |
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